Male Infertility Database

Search Result

Gene id

1080

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

CFTR Gene UCSC Ensembl

Aliases

ABC35, ABCC7, CF, CFTR/MRP, MRP7, TNR-CFTR, dJ760C5.1

Gene name

cystic fibrosis transmembrane conductance regulator

Alternate names

cystic fibrosis transmembrane conductance regulator, cAMP-dependent chloride channel, channel conductance-controlling ATPase, cystic fibrosis transmembrane conductance regulating, cystic fibrosis transmembrane conductance regulator (ATP-binding cassette s,

Gene location

7q31.2 (117479962: 117668664) Exons: 27 NC_000007.14

Gene summary(Entrez)

This gene encodes a member of the ATP-binding cassette (ABC) transporter superfamily. The encoded protein functions as a chloride channel, making it unique among members of this protein family, and controls ion and water secretion and absorption in epithe

OMIM

602421

SNPs

rs397508617

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117642574C>A
NC_000007.14   g.117642574C>T
NC_000007.13   g.117282628C>A
NC_000007.13   g.117282628C>T
NG_016465.4   g.181791C>A
NG_016465.4   g.181791C>T
NM_000492.3   c.3854C>A
NM_000492.3   c.3854C>T
NP_000483.3   p.Ala1285Asp
NP_000483.3   p.Ala1285

rs397508328

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117480095A>G
NC_000007.13   g.117120149A>G
NG_016465.4   g.19312A>G
NM_000492.3   c.1A>G
NG_056120.2   g.4125A>G
NG_056120.1   g.4125A>G
NP_000483.3   p.Met1Val|SEQ=[A/G]|GENE=CFTR

rs386134230

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117606674G>A
NC_000007.13   g.117246728G>A
NG_016465.4   g.145891G>A
NM_000492.3   c.2909G>A
NP_000483.3   p.Gly970Asp|SEQ=[G/A]|GENE=CFTR

rs202179988

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117611649C>T
NC_000007.13   g.117251703C>T
NG_016465.4   g.150866C>T
NM_000492.3   c.3208C>T
NG_056128.2   g.4703C>T
NG_056128.1   g.4703C>T
NP_000483.3   p.Arg1070Trp|SEQ=[C/T]|GENE=CFTR

rs193922501

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117480108C>T
NC_000007.13   g.117120162C>T
NG_016465.4   g.19325C>T
NM_000492.3   c.14C>T
NG_056120.2   g.4138C>T
NG_056120.1   g.4138C>T
NP_000483.3   p.Pro5Leu|SEQ=[C/T]|GENE=CFTR

rs142540482

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117509090G>A
NC_000007.13   g.117149144G>A
NG_016465.4   g.48307G>A
NM_000492.3   c.221G>A
NG_062452.1   g.728G>A
NP_000483.3   p.Arg74Gln|SEQ=[G/A]|GENE=CFTR

rs138338446

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117535269G>A
NC_000007.13   g.117175323G>A
NG_016465.4   g.74486G>A
NM_000492.3   c.601G>A
NP_000483.3   p.Val201Met|SEQ=[G/A]|GENE=CFTR

rs121909046

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117535318A>G
NC_000007.13   g.117175372A>G
NG_016465.4   g.74535A>G
NM_000492.3   c.650A>G
NP_000483.3   p.Glu217Gly|SEQ=[A/G]|GENE=CFTR

rs121909012

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117594990C>T
NC_000007.13   g.117235044C>T
NG_016465.4   g.134207C>T
NM_000492.3   c.2551C>T
NP_000483.3   p.Arg851Ter|SEQ=[C/T]|GENE=CFTR

rs121908777

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000007.14   g.117591987_117592070del
NC_000007.14   g.117591987_117592070dup
NC_000007.13   g.117232041_117232124del
NC_000007.13   g.117232041_117232124dup
NG_016465.4   g.131204_131287del
NG_016465.4   g.131204_131287dup
NM_000492.3   c.1820_1903del
NM_000492

rs121908752

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117535285T>G
NC_000007.13   g.117175339T>G
NG_016465.4   g.74502T>G
NM_000492.3   c.617T>G
NP_000483.3   p.Leu206Trp|SEQ=[T/G]|GENE=CFTR

rs113993960

Strand:    Allele origin:   Allele change:   Mutation type: delins

NC_000007.14   g.117559592_117559594del
NC_000007.13   g.117199646_117199648del
NG_016465.4   g.98809_98811del
NM_000492.3   c.1521_1523del
NP_000483.3   p.Phe508del|SEQ=[TCTT/T]|GENE=CFTR
CFTR-AS1   111082987

rs80034486

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117652877C>G
NC_000007.13   g.117292931C>G
NG_016465.4   g.192094C>G
NM_000492.3   c.3909C>G
NP_000483.3   p.Asn1303Lys|SEQ=[C/G]|GENE=CFTR

rs75541969

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117614699G>C
NC_000007.13   g.117254753G>C
NG_016465.4   g.153916G>C
NM_000492.3   c.3454G>C
NP_000483.3   p.Asp1152His|SEQ=[G/C]|GENE=CFTR

rs1800100

Strand:    Allele origin:   Allele change:   Mutation type: snv

NC_000007.14   g.117592169C>A
NC_000007.14   g.117592169C>T
NC_000007.13   g.117232223C>A
NC_000007.13   g.117232223C>T
NG_016465.4   g.131386C>A
NG_016465.4   g.131386C>T
NM_000492.3   c.2002C>A
NM_000492.3   c.2002C>T
NP_000483.3   p.Arg668Ser
NP_000483.3   p.Arg668Cy

Protein Summary

Protein general information

P13569

Name: Cystic fibrosis transmembrane conductance regulator (CFTR) (ATP binding cassette sub family C member 7) (Channel conductance controlling ATPase) (EC 3.6.3.49) (cAMP dependent chloride channel)

Length: 1480 Mass: 168,142

Tissue specificity: Expressed in corneal and conjunctival epithelia (at protein level). Overexpressed in ovarian carcinomas and ovarian low malignant potential (LMP) tumors as compared to the expression in normal ovarian tissue and ovarian adenomas. {ECO

Sequence

MQRSPLEKASVVSKLFFSWTRPILRKGYRQRLELSDIYQIPSVDSADNLSEKLEREWDRELASKKNPKLINALRR
CFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGM
QMRIAMFSLIYKKTLKLSSRVLDKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFC
GLGFLIVLALFQAGLGRMMMKYRDQRAGKISERLVITSEMIENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAA
YVRYFNSSAFFFSGFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLGAINKIQDFL
QKQEYKTLEYNLTTTEVVMENVTAFWEEGFGELFEKAKQNNNNRKTSNGDDSLFFSNFSLLGTPVLKDINFKIER
GQLLAVAGSTGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQ
LEEDISKFAEKDNIVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFESCVCKLMANKTR
ILVTSKMEHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCDSFDQFSAERRNSILTETLHRFSLEGDA
PVSWTETKKQSFKQTGEFGEKRKNSILNPINSIRKFSIVQKTPLQMNGIEEDSDEPLERRLSLVPDSEQGEAILP
RISVISTGPTLQARRRQSVLNLMTHSVNQGQNIHRKTTASTRKVSLAPQANLTELDIYSRRLSQETGLEISEEIN
EEDLKECFFDDMESIPAVTTWNTYLRYITVHKSLIFVLIWCLVIFLAEVAASLVVLWLLGNTPLQDKGNSTHSRN
NSYAVIITSTSSYYVFYIYVGVADTLLAMGFFRGLPLVHTLITVSKILHHKMLHSVLQAPMSTLNTLKAGGILNR
FSKDIAILDDLLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEGRSP
IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFLYLSTLRWFQMRIEMIFVIFFIAVTFISILTTGEG
EGRVGIILTLAMNIMSTLQWAVNSSIDVDSLMRSVSRVFKFIDMPTEGKPTKSTKPYKNGQLSKVMIIENSHVKK
DDIWPSGGQMTVKDLTAKYTEGGNAILENISFSISPGQRVGLLGRTGSGKSTLLSAFLRLLNTEGEIQIDGVSWD
SITLQQWRKAFGVIPQKVFIFSGTFRKNLDPYEQWSDQEIWKVADEVGLRSVIEQFPGKLDFVLVDGGCVLSHGH
KQLMCLARSVLSKAKILLLDEPSAHLDPVTYQIIRRTLKQAFADCTVILCEHRIEAMLECQQFLVIEENKVRQYD
SIQKLLNERSLFRQAISPSDRVKLFPHRNSSKCKSKPQIAALKEETEEEVQDTRL

Structural information

Protein Domains	ABC (81-365) ABC (423-646) ABC (859-1155) (1210-)
Interpro:	IPR003593 IPR011527 IPR036640 IPR003439 IPR017871 IPR009147 IPR025837 IPR027417
Prosite:	PS50929 PS00211 PS50893
PDB:	1NBD 1XMI 1XMJ 2BBO 2BBS 2BBT 2LOB 2PZE 2PZF 2PZG 3GD7 3ISW 4WZ6 5D2D 5D3E 5D3F 5UAK
PDBsum:	1NBD 1XMI 1XMJ 2BBO 2BBS 2BBT 2LOB 2PZE 2PZF 2PZG 3GD7 3ISW 4WZ6 5D2D 5D3E 5D3F 5UAK
DIP:	32788
MINT:
STRING:	ENSP00000003084

Other Databases

GeneCards: CFTR Malacards: CFTR

Gene ontology

Expand All | Collapse All

GO accession	Term name	Evidence code	Go category
GO:0005224	ATP-binding and phosphory lation-dependent chloride channel activity	TAS	molecular function
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005254	chloride channel activity	IMP	molecular function
GO:0005260	channel-conductance-contr olling ATPase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0006810	transport	TAS	biological process
GO:0006810	transport	TAS	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0007585	respiratory gaseous excha nge	TAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0015106	bicarbonate transmembrane transporter activity	ISS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	ISS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular function
GO:0015701	bicarbonate transport	IEA	biological process
GO:0016323	basolateral plasma membra ne	NAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0017081	chloride channel regulato r activity	TAS	molecular function
GO:0019869	chloride channel inhibito r activity	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0030165	PDZ domain binding	IDA	molecular function
GO:0030301	cholesterol transport	IEA	biological process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IGI	biological process
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IMP	biological process
GO:0043225	ATPase-coupled anion tran smembrane transporter act ivity	TAS	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0045921	positive regulation of ex ocytosis	IMP	biological process
GO:0048240	sperm capacitation	ISS	biological process
GO:0051454	intracellular pH elevatio n	ISS	biological process
GO:0055037	recycling endosome	IDA	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0060081	membrane hyperpolarizatio n	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071320	cellular response to cAMP	ISS	biological process
GO:1902161	positive regulation of cy clic nucleotide-gated ion channel activity	IMP	biological process
GO:1902476	chloride transmembrane tr ansport	IMP	biological process
GO:1902943	positive regulation of vo ltage-gated chloride chan nel activity	IDA	biological process
GO:0031205	endoplasmic reticulum Sec complex	IDA	cellular component
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005224	ATP-binding and phosphory lation-dependent chloride channel activity	TAS	molecular function
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005254	chloride channel activity	IEA	molecular function
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005254	chloride channel activity	IMP	molecular function
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005260	channel-conductance-contr olling ATPase activity	IEA	molecular function
GO:0005260	channel-conductance-contr olling ATPase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005768	endosome	IEA	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0006810	transport	IEA	biological process
GO:0006810	transport	TAS	biological process
GO:0006810	transport	TAS	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006811	ion transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0006821	chloride transport	IEA	biological process
GO:0006904	vesicle docking involved in exocytosis	IEA	biological process
GO:0007585	respiratory gaseous excha nge	TAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0015106	bicarbonate transmembrane transporter activity	IEA	molecular function
GO:0015106	bicarbonate transmembrane transporter activity	ISS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	IEA	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	ISS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular function
GO:0015701	bicarbonate transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of mem brane	IEA	cellular component
GO:0016021	integral component of mem brane	IEA	cellular component
GO:0016323	basolateral plasma membra ne	NAS	cellular component
GO:0016324	apical plasma membrane	IEA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016787	hydrolase activity	IEA	molecular function
GO:0016887	ATPase activity	IEA	molecular function
GO:0017081	chloride channel regulato r activity	TAS	molecular function
GO:0019869	chloride channel inhibito r activity	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0030165	PDZ domain binding	IDA	molecular function
GO:0030301	cholesterol transport	IEA	biological process
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0031901	early endosome membrane	IEA	cellular component
GO:0034707	chloride channel complex	IEA	cellular component
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IEA	biological process
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IGI	biological process
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IMP	biological process
GO:0042626	ATPase activity, coupled to transmembrane movement of substances	IEA	molecular function
GO:0043225	ATPase-coupled anion tran smembrane transporter act ivity	TAS	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0045921	positive regulation of ex ocytosis	IEA	biological process
GO:0045921	positive regulation of ex ocytosis	IMP	biological process
GO:0048240	sperm capacitation	IEA	biological process
GO:0048240	sperm capacitation	ISS	biological process
GO:0051454	intracellular pH elevatio n	IEA	biological process
GO:0051454	intracellular pH elevatio n	ISS	biological process
GO:0055037	recycling endosome	IDA	cellular component
GO:0055085	transmembrane transport	IEA	biological process
GO:0055085	transmembrane transport	TAS	biological process
GO:0060081	membrane hyperpolarizatio n	IEA	biological process
GO:0060081	membrane hyperpolarizatio n	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071320	cellular response to cAMP	IEA	biological process
GO:0071320	cellular response to cAMP	ISS	biological process
GO:1902161	positive regulation of cy clic nucleotide-gated ion channel activity	IEA	biological process
GO:1902161	positive regulation of cy clic nucleotide-gated ion channel activity	IMP	biological process
GO:1902476	chloride transmembrane tr ansport	IEA	biological process
GO:1902476	chloride transmembrane tr ansport	IMP	biological process
GO:1902943	positive regulation of vo ltage-gated chloride chan nel activity	IDA	biological process
GO:0031205	endoplasmic reticulum Sec complex	IDA	cellular component
GO:0005224	ATP-binding and phosphory lation-dependent chloride channel activity	TAS	molecular function
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005254	chloride channel activity	IDA	molecular function
GO:0005254	chloride channel activity	IMP	molecular function
GO:0005254	chloride channel activity	TAS	molecular function
GO:0005260	channel-conductance-contr olling ATPase activity	NAS	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005765	lysosomal membrane	TAS	cellular component
GO:0005769	early endosome	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0005886	plasma membrane	TAS	cellular component
GO:0006810	transport	TAS	biological process
GO:0006810	transport	TAS	biological process
GO:0007585	respiratory gaseous excha nge	TAS	biological process
GO:0009986	cell surface	IDA	cellular component
GO:0015106	bicarbonate transmembrane transporter activity	ISS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	ISS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular function
GO:0015108	chloride transmembrane tr ansporter activity	TAS	molecular function
GO:0016323	basolateral plasma membra ne	NAS	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0016324	apical plasma membrane	IDA	cellular component
GO:0017081	chloride channel regulato r activity	TAS	molecular function
GO:0019869	chloride channel inhibito r activity	IDA	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0030165	PDZ domain binding	IDA	molecular function
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0030660	Golgi-associated vesicle membrane	TAS	cellular component
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IGI	biological process
GO:0035774	positive regulation of in sulin secretion involved in cellular response to g lucose stimulus	IMP	biological process
GO:0043225	ATPase-coupled anion tran smembrane transporter act ivity	TAS	molecular function
GO:0043234	protein complex	IDA	cellular component
GO:0045921	positive regulation of ex ocytosis	IMP	biological process
GO:0048240	sperm capacitation	ISS	biological process
GO:0051454	intracellular pH elevatio n	ISS	biological process
GO:0055037	recycling endosome	IDA	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0060081	membrane hyperpolarizatio n	ISS	biological process
GO:0070062	extracellular exosome	IDA	cellular component
GO:0071320	cellular response to cAMP	ISS	biological process
GO:1902161	positive regulation of cy clic nucleotide-gated ion channel activity	IMP	biological process
GO:1902476	chloride transmembrane tr ansport	IMP	biological process
GO:1902943	positive regulation of vo ltage-gated chloride chan nel activity	IDA	biological process
GO:0031205	endoplasmic reticulum Sec complex	IDA	cellular component

KEGG pathways

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Pathway id	Pathway name
hsa04024	cAMP signaling pathway
hsa04152	AMPK signaling pathway
hsa04530	Tight junction
hsa04971	Gastric acid secretion
hsa04972	Pancreatic secretion
hsa04976	Bile secretion
hsa05110	Vibrio cholerae infection

Diseases

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Associated diseases	References
Cancer	GAD: 19584075
Cancer (Adenocarcinoma)	GAD: 11115825
Cancer (colon)	GAD: 18647844
Cancer (esophageal)	GAD: 20453000
Cancer (head and neck)	GAD: 19584075
Cancer (lung)	GAD: 20116881
Cancer (pancreatic)	GAD: 14688470
Cancer (prostate)	GAD: 17761461
Blood pressure	GAD: 15477385
Congenital abnormalities	GAD: 12794695
Cystic fibrosis	KEGG: H00218
Cystic fibrosis	INFBASE: 12660625
Cystic fibrosis	MIK: 7692051
Colonic diseases	GAD: 18647844
Recurrent or chronic idiopathic pancreatitis	GAD: 10950058
Hyperparathyroidism	GAD: 18076731
Sarcoidosis	GAD: 10980579
Allergic bronchopulmonary aspergillosis ABPA	GAD: 11243954
Allergy	GAD: 11243954
Asthma	GAD: 9654257
Asthma	GAD: 11739132
Cholangitis	GAD: 14567462
Crohn's disease	GAD: 17206681
Biliary cirrhosis	GAD: 12783301
Hyperlipidemia	GAD: 17981921
Diabetes	GAD: 10612489
Bone diseases	GAD: 15640323
Osteoporosis	GAD: 16713399
Atypical sinopulmonary disease	GAD: 9259194
Asthenozoospermia	GAD: 18050608
Azoospermia	GAD: 18616886
Oligozoospermia	GAD: 15333598
Altered fertility	INFBASE: 21110105
Reproductive disorderes	INFBASE: 19170365
Endometriosis	INFBASE: 20199104
Female infertility	INFBASE: 16126774
Hydrosalpinx	INFBASE: 23061681
Preeclampsia	INFBASE: 19481256
Ovarian hyperstimulation syndrome (OHSS)	INFBASE: 18164141
Absence of the vas deferens	MIK: 9797105
Agenesis of vas deferens	MIK: 9412228
Asthenoteratozoospermia	MIK: 18050608
Azoospermic men with congenital bilateral aplasia of epididymis or vas deferens	MIK: 7513294
Bilateral agenesis of the vas deferens	MIK: 16581722
Bilateral congenital ductus deferens aplasia	MIK: 8495645
Bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles	MIK: 9345100
Bilateral�congenital�absence of the vas deferens (CAVD)	MIK: 8473422
Congenital absence of the vas deferens (CAVD)	MIK: 8301660
Congenital bilateral absence of the vas deferens (CBAVD)	MIK: 10200050
Oligoasthenoteratozoospermia	MIK: 16572913
Male factor infertility	MIK: 9412228
Non-CBAVD obstructive azoospermia	MIK: 25895795
Sperm fertilization capacity	MIK: 16414184
Teratozoospermia	MIK: 16412743
Semen quality	MIK: 15533353
Sperm quality defects	MIK: 24077955
Oligozoospermia	MIK: 18050608
Primary testicular failure	MIK: 10655318
Male factor infertility	MIK: 1975022
Obstructive azoospermia	MIK: 10376575
Oligozoospermia	MIK: 20021716
Spermatogenesis defects	MIK: 21250548
Spermatogenesis defects	MIK: 22989055
Spermatogenesis defects	MIK: 10655318
Unilateral agenesis of the vas deferens	MIK: 17175965
Lower�sperm�capacitation	MIK: 14515130
Male factor infertility	MIK: 11466205
Spermatogenesis defects	MIK: 25617301
Asthenoteratozoospermia	MIK: 23998339
Congenital absence of the uterus and vagina (CAUV)	GAD: 12794695
Congenital aplasia of epididymis and vas deferens	MIK: 1975022
Congenital�unilateral absence of the vas deferens (CUAVD)	MIK: 25898554
Cryptorchidism	GAD: 15533383
Congenital�unilateral absence of the vas deferens (CUAVD)	MIK: 12741342
Cryptozoospermia	MIK: 16572913
Lung disease	GAD: 11069835
Pulmonary disease	GAD: 18652532
Chronic obstructive pulmonary disease (COPD)	GAD: 18652532
Chronic obstructive pulmonary disease�(COPD)	GAD: 8105250
Asthma	GAD: 7585155
Alpha 1-antitrypsin deficiency	GAD: 16354855
Bronchiectasis	GAD: 15151509
Pancreas divisum	GAD: 19593166
Hypertrypsinemia	OMIM: 602421
Urogenital abnormalities	GAD: 16272798
Absence of the vas deferens	MIK: 9797105
Agenesis of vas deferens	MIK: 9412228
Azoospermia	MIK: 17928628
Oligospermia	MIK: 18050608
Asthenoteratozoospermia	MIK: 18050608
Azoospermic men with�congenital�bilateral aplasia of epididymis or vas deferens	MIK: 7513294
Bilateral agenesis of the vas deferens	MIK: 16581722
Bilateral congenital ductus deferens aplasia	MIK: 8495645
Bilateral ejaculatory-duct obstruction and anomalies of the seminal vesicles	MIK: 9345100
Bilateral�congenital�absence of the vas deferens (CAVD)	MIK: 8473422
Congenital absence of the vas deferens (CAVD)	MIK: 17413420
Unilateral aplasia (CUAVD),	MIK: 22340520
Male infertility	MIK: 26277102
Congenital bilateral absence of the vas deferens (CBAVD)	MIK: 11574497
Idiopathic obstructive�azoospermia	MIK: 20972246
Cystic fibrosis	MIK: 9334604
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 21250548
Involved in the regulation of epithelial sodium channels(ENaC) during capacitation and thus contribute to the observed hyperpolarization associated with this process	MIK: 17588945
Cryptozoospermia	MIK: 16572913
Oligoasthenoteratozoospermia	MIK: 16572913
Asthenozoospermia	MIK: 16412743
Teratozoospermia	MIK: 16412743
Oligoasthenoteratozoospermia	MIK: 16412743
May be involved in the process of spermatogenesis or sperm maturation	MIK: 8671256
Primary testicular failure	MIK: 10655318
Reproductive disorderes	MIK: 19170365
Semen viscosity	MIK: 15533353
Sperm fertilizing capacity	MIK: 16414184
Asthenoteratospermia	MIK: 23998339
Sperm quality	MIK: 24077955

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
19095672	Congenital �bilateral absence o f the vas deferens ( CBAVD)		Taiwan	62 (26 CBAVD ma les, 20 azoospe rmic patients w ithout CBAVD, 1 6 controls)	Male infertility	PBX1 BRD3 COL18A1 PANK2 CFTR and�HMOX1	Show abstract
26277102	congenital absence o f vas defe rens (CAVD )	c.4433C>G, c.3469-3C>A, c.1357delT, and c.3407C>T		19 patients wit h CAVD and azoo spermia	Male infertility		Show abstract
11466205	Severe mal e�infertil ity, azoos permia, se vere oligo zoospermia			50 (20 CAVD, 30 non-CAVD)	Male infertility, Female infertility	CFTR �MDR1 MRP	Show abstract
25898554	Congenital �unilatera l absence of the vas deferens (CUAVD)	c. 592G > C in exon 6, c. 1210-12T[5] was observed in the noncoding region before exon 10, V470 haplotype in exon 11		6�azoospermia�p atients with CU AVD	Male infertility		Show abstract
25895795	Non-CBAVD obstructiv eazoosperm ia,�sperma togenic�fa ilure		Indian		Male infertility		Show abstract
25617301	Non-CBAVD obstructiv eazoosperm ia,�sperma togenic�fa ilure		Indian		Male infertility		Show abstract
25386751	Congenital �bilateral absence o f vas defe rens (CBAV D)	F508del, G542X, N1303K, 621+1G->T, G551D, R553X, R1162X, W1282X, R117H, 2184insA and 1717-1G->A and IVS8polyT variants		505 ( 369 infer tile men with d ifferent impair ment of spermat ogenesis, 136 f ertile controls )	Male infertility		Show abstract
25010724	Congenital �bilateral absence o f the vas deferens ( CBAVD)	R1358I, K1351R, F508del mutation	Indian	210 (60 males w ith non-CBAVD o bstructive azoo spermia, 150 sp ermatogenic fai lure)	Male infertility		Show abstract
24850600	Male infer tility			118 men with�in fertility	Male infertility	AZFc-locus AR CFTR	Show abstract
24581531	Congenital �bilateral absence o f the vas deferens, acquired o bstructive �azoosperm ia		Chinese		Male infertility		Show abstract
24551851	Congenital �bilateral absence o f the vas deferens	TG13T5, TG12T5, TG12T5-V470	Chinese	192 (89 patient s with CBAVD, 1 03 healthy male s)	Male infertility		Show abstract
24327157	Congenital �bilateral absence o f vas defe rens (CBAV D)	5T polymorphism	Han Chi nese	132 (33 individ uals with CBAVD , 99 azoospermi c males with CB AVD)	Male infertility		Show abstract
24077955	Sperm qual ity			201 (20-40 year s, n=64; 40-60 years, n=61; an d >60 years, n= 76)	Male infertility		Show abstract
23998339	Sperm prog ressive mo tility, te ratospermi a, astheno teratosper mia, asthe nospermia and oligos permia			282 healthy and fertile men wi th normal semen parameters	Male infertility		Show abstract
23953609	Congenital �bilateral absence o f vas defe rens (CBAV D), other obstructiv e�azoosper mia	I556V, M469V, E527N, F508del, S485C, and I558S	Chinese	601( 401 (158 w ith CBAVD, 243 with other acqu ired obstructiv e azoospermia), 200 fertile me n as controls)	Male infertility		Show abstract
23378603	CBAVD, oth er�CFTR-re lated diso rders	p.Arg117His		179 non-newborn French individ uals (83 isolat ed CBAVD, 67 ot her CFTR-relate d phenotypes, 4 4 CBAVD with pu lmonary and/or pancreatic symp toms, 12 asympt omatic cases)	Male infertility		Show abstract
23214250	Congenital �bilateral absence o f vas defe rens (CBAV D)	27 exons of the�CFTR	Chinese	9 patients with CBAVD	Male infertility		Show abstract
22989055	Spermatoge netic defe cts, Male infertilit y		Caucasi an		Male infertility		Show abstract
22842702	Congenital �bilateral absence o f the vas deferens ( CBAVD)	F508del, 5T mutation, IVS8-5T linked to either 12 or 13 TG repeats, TG12-5T-V470 haplotype		213 (109 Chines e infertile mal es with CBAVD, 104 normal cont rols)	Male infertility		Show abstract
22483971	Congenital �bilateral absence o f the vas deferens ( CBAVD)			73 CBAVD patien ts	Male infertility		Show abstract
22191729	Spermatoge netic defe cts, Male infertilit y			109 with CFTR g ene polymorphis m	Male infertility		Show abstract
22148899	Congenital �bilateral absence o f vas defe rens (CBAV D), Male i nfertility	F508del, G542X, W1282X, M470V and D1270N, E1104X, 711+1G ? T, V201M (TG) m and IVS8-5T		20 male patient s with cystic f ibrosis and in whom bilateral absence of vas deferens was co nfirmed	Male infertility		Show abstract
22103471	Congenital �bilateral absence o f the vas deferens ( CBAVD), id iopathic o bstructive �azoosperm ia	�IVS8-Tn(TG)m polymorphisms, p.F508del, p.G542X, p.N1303K, p.S549N, p.I507del, and p.R117H	Mexican	49 (16 CBAVD, 3 3 idiopathic az oospermic cases )	Male infertility		Show abstract
21762191	congenital �bilateral absence o f the vas deferens ( CBAVD)	IVS8-polyT	Tunisia n	457 (148 infert ile patients, 1 26 fertile indi viduals, 129 in fertile patient s, 54 controls )	Male infertility		Show abstract
21520337	Congenital �bilateral absence o f the vas deferens ( CBAVD), id iopathic o bstructive �azoosperm ia	p.Asn34Ser		624 (305 patien ts, 319 control s)	Male infertility		Show abstract
21427159	Spermatoge netic defe cts, Male infertilit y	IVS8 c.1210-12T[5_9], c.1210-35_1210-12GT[8_12]	Chinese Han	508 (126 non-ob structive azoos permia, 169 sev ere oligospermi a and 213 ferti le male control s)	Male infertility		Show abstract
21254931	Congenital �bilateral absence o f the vas deferens ( CBAVD), id iopathic o bstructive �azoosperm ia	pT438A, c.4095+30insCT, c.-737G>A, and c.2909-92A>G, F508delp.E217Gfs*11 and p.A1285V		85 (35 CBAVD pa tients, 50 cont rols)	Male infertility		Show abstract
21250548	Idiopathic spermatog enetic�fai lure	F508del, 5T allele of polymorphic locus IVS8polyT		80 infertile me n with idiopath ic spermatogene tic�failure(36 patients with a spermia, 19 pat ients with�azoo spermia�and 25 patients with severe oligoast henoteratozoosp ermia	Male infertility		Show abstract
20972246	Congenital �bilateral absence o f the vas deferens ( CBAVD), id iopathic o bstructive �azoosperm ia	4 bp sequence repeats (TAAA)(6) and (TAAA)(8) in intron 9 in two CBAVD patients heterozygote for either the -33G?A promoter transition or the classical [TG12T5]�			Male infertility		Show abstract
19298730	Congenital �bilateral absence o f the vas deferens ( CBAVD), ob structive� azoospermi a	TG(13)T(2) allele, TG(11)T(9); R117H; p.Met470Val			Male infertility		Show abstract
19181743	Congenital �bilateral absence o f the vas deferens ( CBAVD)	L69H, F87I, G126S, F157C, E543A, Y852F and D1270E, T5 allele, F508del	Indian	50 males diagn osed with unila teral or bilate ral absence of vas deferens	Male infertility		Show abstract
18810634	Congenital �absence o f the vas deferens	c.1521_1523delCTT, c.1521_1523delCTT/c.3717 + 10 kbC>T		50 CF subjects	Male infertility		Show abstract
18304229	Congenital �bilateral absence o f vas defe rens (CBAV D)	I556V	Japanes e	1 Congenital�bi lateral absence of vas deferen s (CBAVD)	Male infertility		Show abstract
18050608	Azoospermi a, oligosp ermia or a sthenotera tozoosperm ia.	F508del, IVS8-T		93 infertile me n, diagnosed wi th either�azoos permia, oligosp ermia or asthen oteratozoosperm ia.	Male infertility		Show abstract
17823699	Congenital �absence o f vas defe rens	S753R and G149W, IVS8-5T allele	Brazili an	3 patients with CBAVD	Male infertility		Show abstract
17673436	Congenital �absence o f vas defe rens	IVS8-5T		119 (112 CBAVD and 7 CUAVD pat ients)	Male infertility		Show abstract
17617039	Male infer tility	4016insT D1152H			Male infertility		Show abstract
17580535	Male infer tility	F508del	Serbian	33 men with oli go- or azoosper mia	Male infertility		Show abstract
17448246	congenital �bilateral absence o f the vas deferens ( CBAVD)	(c.54-5811_c.164+2186del8108ins182) [or CFTRdele2], (c.3964-3890_c.4443+3143del9454ins5) [or CFTRdele 22_24]		32 CBAVD patien ts	Male infertility		Show abstract
17329263	congenital �bilateral absence o f the vas deferens ( CBAVD)			222 CBAVD patie nts	Male infertility		Show abstract
17314234	Congenital �bilateral absence o f the vas deferens ( CBAVD)	(TG)(m)(T)(n) polymorphisms	Iranian	203 (112 CBAVD, 7 congenital u nilateral absen ce of the vas d eferens males, 84 fertile cont rols)	Male infertility		Show abstract
17175965	Unilateral agenesis of the vas deferens	DeltaF508 / V938G�			Male infertility		Show abstract
16973827	Congenital �bilateral absence o f the vas deferens ( CBAVD)	Y122H, T338A, IVS8-5T, K536X	Iranian	164 (112 Irania n CBAVD males, 52 fertile male s)	Male infertility		Show abstract
16714368	Congenital �bilateral absence o f the vas deferens ( CBAVD)	M470V, F508del carriers	Iranian	106 patients wi th Congenital b ilateral absenc e of the vas de ferens (CBAVD)	Male infertility		Show abstract
16639412	Congenital �bilateral absence o f the vas deferens ( CBAVD)				Male infertility		Show abstract
16581722	Bilateral agenesis o f the vas deferens	F508/IVS8-5T	Brazili an	52 (40 white in dividuals with agenesis of the vas deferens, 12 siblings wit hout agenesis o f the vas defer ens)	Male infertility		Show abstract
16572913	Male infer tility, az oospermioa , cryptozo ospermia, oligoasthe noteratozo ospermia	R810G	Polish	188 infertile m en (100 patient s with azoosper mia, 38 with cr yptozoospermia and 50 with oli goasthenoterato zoospermia)	Male infertility		Show abstract
16481891	Congenital �bilateral absence o f the vas deferens ( CBAVD)	�IVS8-5T		48 men with CBA VD	Male infertility		Show abstract
16414184	Sperm fert ilizing ca pacity				Male infertility		Show abstract
16412743	Male infer tility, ol igozoosper mia, asthe nozoosperm ia, terato zoospermia , cryptozo ospermia, oligoasthe noteratozo ospermia, or azoospe rmia	IVS8T alleles		597 males with oligo-, astheno -, terato-, cry pto-, oligoasth enoteratozoospe rmia, or�azoosp ermia	Male infertility		Show abstract
16272798	CBAVD-depe ndent male �infertili ty	R117H, DeltaF508,	Austria n	22 CBAVD patien ts	Male infertility		Show abstract
16128988	Male infer tility	IVS8-6(5T) allele		170 (83 non-obs tructive (NOb) infertility, 87 clinically wel l-defined ferti le individuals as controls)	Male infertility		Show abstract
16126774	Male infer tility	5T polymorphism		22386 (20,532 c ontrols, 1854 i diopathically i nfertile cases)	Male infertility		Show abstract
15905293	Congenital �bilateral absence o f the vas deferens ( CBAVD)	p.V201M, p.N287K, c.-8G > C (125G > C), p.M469I and p.S895N	Asian/T aiwanes e�	36 infertile ma les with CBAVD	Male infertility		Show abstract
15644056	Male infer tility	DeltaF508, R117H, IVS8-5T		282 infertile m ale patients	Male infertility		Show abstract
15580565	Congenital �bilateral absence o f vas defe rens (CBAV D)	[TG11T7; p.Phe508Cys; p.Met470Val], TG12T3			Male infertility		Show abstract
15533353	Semen visc osity	(TG)mTn polymorphic tracts		118 (46 inferti le couples with sine causa hig h semen viscosi ty, 72 normospe rmic men)	Male infertility		Show abstract
15357566	Congenital �bilateral absence o f vas defe rens (CBAV D)	�exon 17b (3373G>C)	Laotian	1 congenital bi lateral absence of the vas def erens	Male infertility		Show abstract
15333598	Congenital �bilateral absence o f vas defe rens (CBAV D)	F508del, R334W, CFTR+5T	Portuge se	31 CBAVD, 4 CUA VD	Male infertility		Show abstract
15239534	Congenital �bilateral absence o f vas defe rens (CBAV D)	deltaF508, G542X, R117H, R347P	Argenti ne		Male infertility		Show abstract
15070876	Congenital �bilateral absence o f vas defe rens (CBAV D)	IVS8-5T and D1152H	Turkish	51 with CBAVD	Male infertility		Show abstract
14747162	Congenital �bilateral absence o f vas defe rens (CBAV D)	5T/7T, 5T/5T, Delta F508 or R117H	Taiwane se	73 (27 cases, 4 6 normal fertil e males as cont rols)	Male infertility		Show abstract
12660625	Congenital �bilateral absence o f vas defe rens (CAVD ), cystic fibrosis	5-thymidine variant of the polythymidine tract of intron 8 of CFTR		35 infertile ma lea	Male infertility		Show abstract
12422349	Congenital bilateral absence o f the vas deferens ( CBAVD), ob structive azoospermi a, male in fertility			1 congenital bi lateral absence of the vas def erens	Male infertility		Show abstract
12151438	Congenital bilateral absence o f the vas deferens ( CBAVD)	100 CF mutations		92 men with CBA VD	Male infertility		Show abstract
12073281	Congenital bilateral absence o f the vas deferens ( CBAVD), az oospermia, male infe rtility, o ligospermi a	delta F508 and delta 1507 (heteroduplex analysis), 621 + 1 G-->T, and N1303K (PSM--PCRmediated site-specific mutagenesis), A455E, 1717-1 G-->A, S549N, R560T, W1282X, R334W, R347P, R117H, 3849 + 10 kb C-->T and Tn, F508C, 1507V, 1506V polymorphisms (revers		21 infertile me n with oligo or azoospermia	Male infertility		Show abstract
12009340	Congenital bilateral absence o f the vas deferens ( CBAVD)	13 most common�CFTR�gene mutations, 5T allele and for the 5-thymidine variant of intron 8		47 infertile me n lacking at le ast one vas def erens	Male infertility		Show abstract
11574497	Congenital bilateral absence o f the vas deferens ( CBAVD)	22 CF mutations		50 patients wit h CBAVD	Male infertility		Show abstract
11466205	Male infer tility			50 (20 CAVD, 30 non- CAVD)	Male infertility	CFTR MDR1 and MRP	Show abstract
11247407	Congenital �bilateral absence o f the vas deferens ( CBAVD), Ob structive azoospermi a			35 congenital b ilateral absenc e of the vas de ferens (CBAVD)	Male infertility		Show abstract
11101688	Congenital �absence o f the vas deferens ( CAVD)	2789+2insA, L1227S, 4428insGA, DeltaDeltaF508 mutation, R117H		47 males with a nomalies of the vas deferens	Male infertility		Show abstract
10932005	Congenital unilateral absence o f the vas deferens ( CUAVD)	�Leucine(codon 1055, CTT) to Isoleucine(codon ATT)	Chinese		Male infertility		Show abstract
10878476	Congenital �bilateral absence o f the vas deferens ( CBAVD)	R766M, R792G			Male infertility		Show abstract
10871656	Congenital �bilateral absence o f the vas deferens ( CBAVD)	IVS8-(5T)	Tamil		Male infertility		Show abstract
10923036	Congenital �bilateral absence o f the vas deferens ( CBAVD)	F508del, G542X, N1303K, and 1717-1G>A	France	800 with congen ital bilateral absence of the vas deferens (C BAVD)	Male infertility		Show abstract
10875853	Congenital �bilateral absence o f the vas deferens ( CBAVD)		Spanish	134 Spanish CAV D patients [110 congenital bil ateral absence of the vas defe rens (CBAVD) an d 24 CUAVD]	Male infertility		Show abstract
10856487	Obstructiv e�azoosper mia			59 men with obs tructive azoosp ermia	Male infertility		Show abstract
10655318	Male infer tility ,sp ermatogeni c dysfunct ion	spermatogenic�dysfunction			Male infertility		Show abstract
10653141	Congenital �absence o f the vas deferens	Congenital�bilateral absence of the vas deferens (CBAVD)		37 patients wit h CBAVD	Male infertility		Show abstract
10651488	Congenital �absence o f the vas deferens	D513G (A-->G at position 1670), AEF508, AE1507, D513G, M470V, E528E (1716 G>A)	France	83 patients wit h CBAVD�	Male infertility		Show abstract
10601093	Congenital �absence o f the vas deferens	CFTR�haplotype (TG11-T7-G1540)		100 (56 patient s with severe o ligoasthenotera tozoospermia (O AT), 50 control s)	Male infertility		Show abstract
10376575	Congenital �absence o f the vas deferens, obstructiv e azoosper mia	31 most common�CFTR�mutations		198 (149 obstru ctive azoosperm ia, 49 nonobstr uctive azoosper mia as controls , 64 CBAVD, 10 CUAVD, 75 epidi dymal obstructi on)	Male infertility		Show abstract
10200050	Congenital �absence o f the vas deferens, obstructiv e azoosper mia	P111L, M244K, A1364V, G544V, 2896insAG,-33G->A	Souther n franc e	64 men with CBA VD	Male infertility		Show abstract
10066035	Congenital �absence o f the vas deferens, obstructiv e azoosper mia			2 CBAVD	Male infertility		Show abstract
10050655	Congenital �absence o f the vas deferens, obstructiv e azoosper mia	8 5T splice variant, IVS-5T, deltaF508, 541 (L541P)	Egyptia n	36 (20 CBAVD ma les, 16 of the males without a ssociated renal abnormalities)	Male infertility		Show abstract
9797105	Absence of the vas d eferens			46 infertile me n with absence of the scrotal vas deferens an d no signs of c ystic fibrosis	Male infertility		Show abstract
9736775	congenital �bilateral absence o f the vas deferens ( CBAVD)	IVS8-6(T) n			Male infertility		Show abstract
9695373	Azoospermi a	DF508, G542X, N1303K, 1717-1(G- > A), W1282X, G551D, R553X i DI507		24 infertile	Male infertility		Show abstract
9678705	congenital �bilateral absence o f the vas deferens ( CBAVD)	5T allele, V allele, M470V		60 patients wit h CBAVD	Male infertility		Show abstract
9675940	congenital �bilateral agenesis of the vas deferens, cystic fi brosis	G542X		3 azoospermic p atients	Male infertility		Show abstract
9630075	congenital �bilateral agenesis of the vas deferens	W1282X, P499A		1 CBAVD	Male infertility		Show abstract
9598638	congenital �bilateral absence o f the vas deferens ( CBAVD)			41 patients wit h CBAVD	Male infertility		Show abstract
9412228	Agenesis o f vas defe rens			4 bilateral age nesia	Male infertility		Show abstract
9345100	Bilateral ejaculator y-duct obs truction a nd anomali es of the seminal ve sicles				Male infertility		Show abstract
9334604	Congenital �bilateral absence o f the vas deferens, cystic fib rosis			131 brothers of men with conge nital bilateral absence	Male infertility		Show abstract
9272157	Congenital �absence o f the vas deferens ( CAVD)	�delta F508, R117H	German	106 CAVD	Male infertility		Show abstract
9150843	Congenital �absence o f the vas deferens ( CAVD)		French	�64 males with CBAVD	Male infertility		Show abstract
9067761	congenital �bilateral agenesis of the vas deferens	S50Y and 4173delC			Male infertility		Show abstract
9043501	congenital �bilateral agenesis of the vas deferens		Scotlan d		Male infertility		Show abstract
9026991	congenital �bilateral aplasia o f vas defe rens (CBAV D)		Ukraine	8 patients with CBAVD	Male infertility		Show abstract
8627844	congenital �absence o f the vas deferens			104 subfertile men with congen ital absence of the vas defere ns (84 bilatera lly and 20 unil aterally)	Male infertility		Show abstract
8834261	CUAVD	CFTR�gene exon 8 (L375F)			Male infertility		Show abstract
8829643	CBAVD				Male infertility		Show abstract
8557264	CBAVD			38 patients wit h CBAVD	Male infertility		Show abstract
7573058	congenital �absence o f vas defe rens				Male infertility		Show abstract
7545847	Congenital �agenesis of the vas deferens	delta F 508, R 117 H		1 CAVD	Male infertility		Show abstract
7540706	obstructiv e�azoosper mia				Male infertility		Show abstract
7739684	Congenital �bilateral absence o f the vas deferens ( CBAVD)	5T allele		102 patients wi th CBAVD	Male infertility		Show abstract
7539342	Congenital �bilateral absence o f the vas deferens ( CBAVD)	�delta F508 (14 cases), R117H (7 cases), R1070W (2 cases), 621 + 1 G --> T (1 case), and A1067V (1 case)		25 CBAVD	Male infertility		Show abstract
7539210	Congenital �bilateral aplasia o f the vas deferens ( CBAVD)			11 families	Male infertility		Show abstract
7532150	Congenital �absence o f the vas deferens	delta F508/L206W, delta F508/R74W + D1270N, R117H/712-1G --> T		40 infertile pa tients with con genital absence of the vas def erens	Male infertility		Show abstract
8556303	Congenital �bilateral aplasia o f the vas deferens ( CBAVD)	CFTR�intron 8 (TG)n 5T allele		45 azoospermic individuals	Male infertility		Show abstract
7529962	Congenital �bilateral aplasia o f the vas deferens ( CBAVD)	A800G, G149R, R258G, delta F508 and E193K		67 men with CBA VD	Male infertility		Show abstract
7513294	Azoospermi c men with �congenita l�bilatera l aplasia of epididy mis or vas deferens			12 unrelated in fertile men wit h�abnormalities �of the vas def erens and/or ep ididymis	Male infertility		Show abstract
7516233	CBAVD			1 CBAVD	Male infertility		Show abstract
7505692	CBAVD				Male infertility		Show abstract
7692051	Male infer tility, cy stic fibro sis	R117H			Male infertility		Show abstract
7686336	congenital �bilateral aplasia o f the vas deferens	delta F508 and F508C		1 congenital bi lateral aplasia of the vas def erens	Male infertility		Show abstract
8473422	Bilateral� congenital �absence o f the vas deferens ( CAVD)	Delta F-508/R117H, one with R553X/R117H		125 (44 patient s with CAVD and their wives, 2 4 of their pare nts, and 13 of their offspring )	Male infertility		Show abstract
25246892	Male infer tility	M469I mutation in Exon 10 CFTR gene	Taiwane se	170 (110 patien ts (90 non obst ructive, 20 obs tructive), 60 n ormal individua ls )	Male infertility		Show abstract
15705389	Congenital �bilateral absence o f the vas deferens ( CBAVD)	7T/7T homozygote at IVS8-T, with a 4000C-->T change (P1290S) in exon 20 of the CFTR gene, 3272-26A-->G mutation		161 (109 fertil e men, 32 patie nts with CBAVD, 15 children ca rriers of one C FTR mutation, a nd 5 patients w ith CF)	Male infertility		Show abstract
11788091	Obstructiv e and nono bstructive �infertili ty		Sloveni a	277 (80 men wit h idiopathic az oospermia, 50 m en with severe oligozoospermia , 70 men with o ligoasthenotera tozoospermia, a nd 7 men with c ongenital bilat eral absence of the vas defere ns (CBAVD), as well as 95 cont rols)	Male infertility		Show abstract
17928628	Azoospermi a				Male infertility	CRISP1 SPINLW1 FAM12B DEFB129 CFTR AQP5 KCNK4 KCNK17 SLC6A20 SLC13A3 DEFB126 and DEFB106A	Show abstract
18616886	Male infer tility	CFTR (IVS8-Tn, IVS8-TG12, IVS8-5T)			Male infertility		Show abstract
24958810	Congenital absence o f the vas deferens	p.Phe508del, p.Arg117His, IVS8-T5 allele	Indian	60 consecutive infertile males with a diagnos is of CAVD	Male infertility		Show abstract
24559724, 24636394	CBAVD	?F508		945 (352 were d iagnosed as hav ing CBAVD, 148 were diagnosed as having infec tive/inflammato ry obstruction, 42 were diagno sed as having v asectomy obstru ction, and 403 were diagnosed as having idiop athic epididyma l obstruction)	Male infertility		Show abstract
22340520	Congenital absence o f vas defe rens (CAVD ), bilate ral (CBAVD ), unilate ral aplasi a (CUAVD),			123 (110 patien ts, the conditi on was bilatera l (CBAVD), 13 m en had unilater al aplasia (CUA VD), and 10 pat ients additiona lly had aplasia of one kidney)	Male infertility	CFTR	Show abstract
20734777	Male infer tility	IVS8-5T, F508del, CFTRdele2,3 (21kb), W1282X, 2143delT, 3849+10kbC>T, L138ins, 1677delTA, 2184insA, 3821delT, G542X, N1303K, R334W	Russian	963 infertile m en	Male infertility	CFTR	Show abstract
20657600	CBAVD			38 (23 CBAVD pa tients, 15 of w hom had a singl e CFTR mutation )	Male infertility	CFTR	Show abstract
20021716	congenital absence o f the vas deferens ( CAVD), azo ospermia, oligozoosp ermia			476 (310 infert ile men (25 wit h congenital ab sence of the va s deferens (CAV D), 116 with no n-CAVD azoosper mia, 169 with s evere oligosper mia), 70 female partners and 9 6 healthy contr ols)	Male infertility	CFTR	Show abstract
19893581	Congenital bilateral absence o f vas defe rens (CBAV D)	CFTR (621+3 A>G, Q552X)	Italian		Male infertility	CFTR	Show abstract
19170365	Reproducti ve disorde res	F508del (heterozygotes) in CFTR gene with T5 variant in trans position		268 (164 men wi th reproductive disorders, 104 gamete donors)	Male infertility	CFTR	Show abstract
17572159	Male infer tility, ob structive azoospermi a	CFTR (F508del, G542X and N1303K)	Algeria , Tunis ia, Eur opean	127 (81 Algeria n patients, 46 unrelated Alger ian individuals with obstructi ve azoospermia)	Male infertility	CFTR	Show abstract
15870824	CBAVD	CFTR ( TG-M470V-5T, 12TG-V470)		139 patients	Male infertility	CFTR	Show abstract
19923167	Sperm fert ilizing ca pacity				Male infertility	CFTR	Show abstract
1975022	Congenital aplasia o f epididym is and vas deferens	CF (delta F508)			Male infertility	CF	Show abstract
10601093	Male infer tility			106 (56 patient s with severe o ligoasthenotera tozoospermia (O AT), 50 control s)	Male infertility	CFTR	Show abstract
10200050	CBAVD�	CBAVD (P111L, M244K, A1364V, G544V, 2896insAG,-33G->A, DF508 + A1067T)	Souther n franc e	64 patients	Male infertility	CFTR	Show abstract
8564145	Male infer tility	3849+10kb C > T	Hispani c	1 with bronchie ctasis, normal sweat electroly tes, pancreatic sufficiency, d elayed progress ion of pulmonar y disease, and a sperm biopsy consistent with fertility	Male infertility	CFTR	Show abstract
8301660	CAVD	(D1270N, G576A, AF508)		35 men particip ating in a MESA (microscopic e pididymal sperm aspiration) pr ogramme for cys tic fibrosis ca rrier status	Male infertility	CFTR	Show abstract
8495645	Bilateral congenital ductus de ferens apl asia			1 patient with azoospermia cau sed by bilatera l aplasia of th e vas deferens and his wife	Male infertility	CFTR	Show abstract
10655318	Primary te sticular f ailure	CFTR ( 5T variant of the IVS8-T tract )			Male infertility	CFTR	Show abstract
10376575	Obstructiv e azoosper mia	CFTR (intron 8 (IVS8-5T))		198 (149 obstru ctive azoosperm ia (64 had cong enital bilatera l absence of th e vas deferens (CBAVD), 10 had congenital uni lateral absence of the vas def erens (CUAVD), and 75 had epid idymal obstruct ion), 49 nonobs tructive azoosp ermia)	Male infertility	CFTR	Show abstract
9620832	Congenital bilateral absence o f the vas deferens ( CBAVD), Az oospermia, Oligozoos permia	CFTR (three allele (5T, 7T, 9T) polymorphic tract of thymidines in intron 8 (IVS8-polyT))		14 CBAVD	Male infertility	CFTR	Show abstract
22390181	Male infer tility, co ngenital b ilateral a bsence of vas defere ns (CBAVD)	F508del, A455E		1 infertile men with CBAVD	Male infertility	CFTR	Show abstract
17413420	Congenital absence o f the vas deferens ( CAVD)			45 patients wit h congenital ab sence of the va s deferens	Male infertility	CFTR	Show abstract
12741342	CUAVD, azo ospermia			1 CUAVD, azoosp ermia PATIENT	Male infertility	CFTR	Show abstract
18796364	CBAVD, Mal e infertil ity	_F508, p.L375F	Caucasi an, Tai wanese	4 (1CBAVD fathe r)	Male infertility		Show abstract
18769034	CBAVD	P439S, P1290S, E1401K			Male infertility		Show abstract
17588945	Involved i n the regu lation of epithelial sodium ch annels(ENa C) during capacitati on and thu s contribu te to the observed h yperpolari zation ass ociated wi th this pr ocess				Male infertility		Show abstract
17398169	Congenital bilateral absence o f the vas deferens ( CBAVD)	intron 6b (1001+5 G-->A)	Chinese		Male infertility		Show abstract
15463840	CBAVD	W216X, G1349S, Q1352H	Japanes e	72 (19 CBAVD pa tients, 53 norm al individuals)	Male infertility		Show abstract
28776713	CBAVD, Mal e infertil ity	�poly-T, TG repeats and c.1408A>G p.Met470Val (M470V)	Indian	202 (76 men wit h CBAVD, 76 the ir female partn ers, 50 healthy men)	Male infertility		Show abstract
9328474	CBAVD, Mal e infertil ity	IVS8-T genotype			Male infertility		Show abstract
8671256	May be inv olved in t he process of sperma togenesis or sperm m aturation, azoosperm ia			127 (80 healthy men with infer tility due to r educed sperm qu ality, 26 indiv iduals with nor mal semen param eters, 21 men with azoospermi a)	Male infertility		Show abstract
28456595	Non-obstru ctive azoo spermia (N OA)�	T5 allele and TG12-T5-V470		200 (100 NOA, 1 00 fertile cont rols)	Male infertility		Show abstract
30450785	Congenital bilateral absence o f the vas deferens ( CBAVD), Ma le inferti lity	c.4056G>C;p.Gln1352Cys, c.592G>C;p.Ala198Pro, c.3717G>A;p.Arg1239, IVS8-T5-TG13		2 CBAVD	Male infertility		Show abstract
27488005	Male infer tility	c.1540A>G, c.2694T>G , c.4521G>A, IVS8-5T , c.621+91A>G, c.2752+106A>T, c.2751+85_88delTA, c.3120+529InsC, c.4375-69C>T, M470V, T854T, P1290P, Q1463Q, c.196+12T>C, c.875+40A>G, c.3041-71G>C, c.3271+42A>T, c.3272-93T>C, c.3500-140A>C and c.3601-65C>A	Indian	37 (5 Indian in fertile males h aving CBAVD-URA , 32 halthy con trols )	Male infertility		Show abstract
27483469	Spermatoge nesis defe cts, Male infertilit y		Caucasi ans		Male infertility		Show abstract
26989879	CBAVD, Mal e infertil ity	p.Phe508del, p.Ser1251Asn	Egyptia n	60 cystic fibro sis patients	Male infertility		Show abstract
26814065	Male infer tility	c.-195C > A�	Chinese	61 (11 CBAVD pa tients,50 healt hy men as contr ol)	Male infertility		Show abstract
24657265	Impairs sp ermatogene sis				Male infertility		Show abstract
29864494	Congenital bilateral absence o f the vas deferens ( CBAVD), Ma le inferti lity	c.-150G?>?T, c.-205?T?>?C, c.-245C?>?T, c.-871G?>?T, c.-966?T?>?G and c.-1062G?>?C,� c.-861delT	Chinese	126 (66 patient s with CBAVD, 6 0 healthy subje cts)	Male infertility		Show abstract
29804404	Congenital bilateral absence o f the vas deferens ( CBAVD), Ma le inferti lity	13TG-5T/12TG-5T	Chinese	2brothers	Male infertility		Show abstract
21976147	Male infer tility, CA VD obstruc tive azoos permia			103 (53 inferti le men with non -CAVD obstructi ve azoospermia and 50 normal m en as control i ndividuals)	Male infertility		Show abstract
21625623	Impaired s permatogen esis, Azoo spermia				Male infertility		Show abstract
29713536	Sperm numb er defects	c.350G?>?A (p.Arg117His)			Male infertility	NGS	Show abstract
31672438	Congenital bilateral absence o f vas defe rens (CBAV D)	p.(Arg117Cys), p.(Arg1158*), p.(Asp110His), p.(Ser945Leu), p.(Arg248Thr), p.(Phe508Cys), p.(Gly463Ser), p.(Phe508del), p.(Arg117His)		1112 idiopathic infertile men with azoospermi a or severe oli gozoospermia. P re-screening ex clusion criteri a were CBAVD by clinical exami nation with pos itive CFTR sequ ence analysis a s part of routi ne fertility wo rkup	Male infertility	NGS	Show abstract
31709488	Congenital aplasia o f vas defe rens (CAVD )	c.50dupT;p.S18Qfs*27, IVS9-TG13-5T	Chinese	2 cases	Male infertility	NGS	Show abstract
31356021	Male infer tility	F508del, CFTRdel21kb, 1677delTA, 2143delT, W1282X and 5T		885 infertile m en	Male infertility	Snapshot PCR	Show abstract
31845523	Congenital absence o f vas defe rens (CAVD )	p.Val562Ile variant	Caucasi an	51 apparently h ealthy infertil e men and 2 new born twin broth ers with bilate ral absence of the vas deferen s	Male infertility	NGS	Show abstract
17327269	Teratozoos permia			19 (6 controls , 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)	Show abstract
28606200	Cryptorchi dism			Monozgotic twin s (1 control, I cwith cryptorc hidism)	Male infertility	MeDIP-Seq	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

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Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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