Male Infertility Database

Search Result

Gene id

8701

Gene Summary SNPs Protein Summary Gene ontology KEGG pathways Diseases PubMed

Gene Summary

Gene Symbol

DNAH11 Gene UCSC Ensembl

Aliases

CILD7, DNAHBL, DNAHC11, DNHBL, DPL11

Gene name

dynein axonemal heavy chain 11

Alternate names

dynein heavy chain 11, axonemal, axonemal beta dynein heavy chain 11, axonemal dynein heavy chain 11, ciliary dynein heavy chain 11, dynein, axonemal, heavy polypeptide 11, dynein, ciliary, heavy chain 11,

Gene location

7p15.3 (21543214: 21901567) Exons: 82 NC_000007.14

Gene summary(Entrez)

This gene encodes a ciliary outer dynein arm protein and is a member of the dynein heavy chain family. It is a microtubule-dependent motor ATPase and has been reported to be involved in the movement of respiratory cilia. Mutations in this gene have been i

OMIM

603339

SNPs

rs200693106

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

NC_000007.14   g.21702773C>A
NC_000007.14   g.21702773C>T
NC_000007.13   g.21742391C>A
NC_000007.13   g.21742391C>T
NG_012886.2   g.164559C>A
NG_012886.2   g.164559C>T
NM_001277115.2   c.6244C>A
NM_001277115.2   c.6244C>T
NM_001277115.1   c.6244C>A
NM_001277115.1   c.62

rs121908855

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

NC_000007.14   g.21880869C>G
NC_000007.13   g.21920487C>G
NG_012886.2   g.342655C>G
NM_001277115.2   c.12363C>G
NM_001277115.1   c.12363C>G
NP_001264044.1   p.Tyr4121Ter|SEQ=[C/G]|GENE=DNAH11

rs121908854

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

NC_000007.14   g.21748602C>A
NC_000007.14   g.21748602C>G
NC_000007.14   g.21748602C>T
NC_000007.13   g.21788220C>A
NC_000007.13   g.21788220C>G
NC_000007.13   g.21788220C>T
NG_012886.2   g.210388C>A
NG_012886.2   g.210388C>G
NG_012886.2   g.210388C>T
NM_001277115.2   c

Protein Summary

Protein general information

Q96DT5

Name: Dynein heavy chain 11, axonemal (Axonemal beta dynein heavy chain 11) (Ciliary dynein heavy chain 11)

Length: 4516 Mass: 520,369

Sequence

MAAQVAAREARDFREAPTLRLTSGAGLEAVGAVELEEEEENEEEAAARRARSFAQDARVRFLGGRLAMMLGFTEE
KWSQYLESEDNRQVLGEFLESTSPACLVFSFAASGRLAASQEIPRDANHKLVFISKKITESIGVNDFSQVVLFGE
LPALSLGHVSAFLDEILVPVLSNKNNHKSWSCFTSQDMEYHIEVMKKKMYIFRGKMSRRTLLPIPTVAGKMDLDQ
NCSENKPPSNERIILHAIESVVIEWSHQIQEIIERDSVQRLLNGLHLSPQAELDFWMMRRENLSCIYDQLQAPVV
LKMVKILTTKQSSYFPTLKDIFLAVENALLEAQDVELYLRPLRRHIQCLQETEFPQTRILIAPLFHTICLIWSHS
KFYNTPARVIVLLQEFCNLFINQATAYLSPEDLLRGEIEESLEKVQVAVNILKTFKNSFFNYRKKLASYFMGRKL
RPWDFQSHLVFCRFDKFLDRLIKIEDIFATTLEFEKLERLEFGGTKGAILNGQVHEMSEELMELCKLFKQSTYDP
SDCTNMEFESDYVAFKSKTLEFDRRLGTIICEAFFNCNGLEAAFKLLTIFGNFLEKPVVMEIFSLHYSTLVHMFN
TELDVCKQLYNEHMKQIECGHVVLNKNMPFTSGNMKWAQQVLQRLQMFWSNFASLRYLFLGNPDHALVYQKYVEM
TTLLDQFESRIYNEWKSNVDEICEFNLNQPLVKFSAINGLLCVNFDPKLVAVLREVKYLLMLKKQDIPDSALAIF
KKRNTILKYIGNLDLLVQGYNKLKQTLLEVEYPLIEDELRAIDEQLTAATTWLTWQDDCWGYIERVRAATSELEH
RVERTQKNVKVIQQTMRGWARCVLPPRREHRREAAFTLEDKGDLFTKKYKLIQGDGCKIHNLVEENRKLFKANPS
LDTWKIYVEFIDDIVVEGFFQAIMHDLDFFLKNTEKQLKPAPFFQAQMILLPPEIVFKPSLDREAGDGFYDLVEE
MLCNSFRMSAQMNRIATHLEIKNYQNDMDNMLGLAEVRQEIMNRVVNVINKVLDFRNTLETHTYLWVDDRAEFMK
HFLLYGHAVSSDEMDAHANEEIPEQPPTLEQFKEQIDIYEALYVQMSKFEDFRVFDSWFKVDMKPFKVSLLTIIK
KWSWMFQEHLLRFVIDSLNELQEFIKETDSGLQRELNEGDHDGLVDIMVHLLAVRSRQRATDELFEPLKETITLL
ESYGQKMPEQVYIQLEELPERWETTKKIAATVRHEVSPLHNAEVTLIRKKCILFDAKQAEFRERFRHYAPLGFNA
ENPYTALDKANEELEALEEEMLQMQESTRLFEVALPEYKQMKQCRKEIKLLKGLWDVIIYVRRSIDNWTKTQWRQ
IHVEQMDVELRRFAKEIWSLNKEVRVWDAYTGLEGTVKDMTASLRAITELQSPALRDRHWHQLMKAIGVKFLINE
ATTLADLLALRLHRVEDDVRRIVDKAVKELGTEKVITEISQTWATMKFSYEVHYRTGIPLLKSDEQLFETLEHNQ
VQLQTLLQSKYVEYFIEQVLSWQNKLNIADLVIFTWMEVQRTWSHLESIFVCSEDIRIQLVKDARRFDGVDAEFK
ELMFKTAKVENVLEATCRPNLYEKLKDLQSRLSLCEKALAEYLETKRIAFPRFYFVSSADLLDILSKGAQPKQVT
CHLAKLFDSIADLQFEDNQDVSAHRAVGMYSKEKEYVPFQAECECVGHVETWLLQLEQTMQETVRHSITEAIVAY
EEKPRELWIFDFPAQVALTSSQIWWTTDVGIAFSRLEEGYETALKDFHKKQISQLNTLITLLLGELPPGDRQKIM
TICTIDVHARDVVAKLISQKVVSPQAFTWLSQLRHRWEDTQKHCFVNICDAQFQYFYEYLGNSPRLVITPLTDRC
YITLTQSLHLTMSGAPAGPAGTGKTETTKDLGRALGMMVYVFNCSEQMDYKSIGNIYKGLVQTGAWGCFDEFNRI
SVEVLSVVAVQVKMIHDAIRNRKKRFVFLGEAITLKPSVGIFITMNPGYAGRTELPENLKALFRPCAMVAPDIEL
ICEILLVAEGFVDARALARKFITLYTLCKELLSKQDHYDWGLRAIKSVLVVAGSLKRGDKNRPEDQVLMRALRDF
NMPKIVTDDIPVFLGLVGDLFPALDVPRRRKLHFEQMVRQSTLELRLQPEESFILKVVQLEELLAVRHSVFVVGN
AGTGKSKILRTLNRTYVNMKQKPVWNDLNPKAVTTDELFGFIHHATREWKDGKIVYSYFIGLFSSILREQANLKH
DGPKWIVLDGDIDPMWIESLNTVMDDNKVLTLASNERIALTPFMRLLFEIHHLRSATPATVSRAGILYVNPQDLG
WNPYVASWIDRRRHQSEKANLTILFDKYVPACLDKLRTSFKTITSIPESSLVQTLCVLLECLLTPENVPSDSPKE
VYEVYFVFACIWAFGGTLLQDQISDYQADFSRWWQKEMKAVKFPSQGTIFDYYVDHKTKKLLPWADKIAQFTMDP
DVPLQTVLVHTTETARLRYFMELLLEKGKPLMLVGNAGVGKTVFVGDTLASLSEDYIVSRVPFNYYTTSTALQKI
LEKPLEKKAGHNYGPGGNKKLIYFIDDMNMPEVDLYGTVQPHTLIRQHIDYGHWYDRQKVMLKEIHNCQYVACMN
PMVGSFTINPRLQRHFTVFAFNFPSLDALNTIYGQIFSFHFQQQAFAPSILRSGPTLIQATIAFHQTMMCNFLPT
AIKFHYIFNLRDLSNVFQGILFASPECLKGPLDLIHLWLHESARVYGDKLIDKKDCDLFQRRMLETAYKYFEGID
SHMLLQQPLIYCHFADRGKDPHYMPVKDWEVLKTILTETLDNYNELNAAMHLVLFEDAMQHVCRISRILRTPQGC
ALLVGVGGSGKQSLSRLAAYLRGLEVFQITLTEGYGIQELRVDLANLYIRTGAKNMPTVFLLTDAQVLDESFLVL
INDLLASGEIPDLFSDEDVDKIISGIHNEVHALGMVDSRENCWKFFMARVRLQLKIILCFSPVGRTLRVRARKFP
AIVNCTAIDWFHAWPQEALVSVSRRFIEETKGIEPVHKDSISLFMAHVHTTVNEMSTRYYQNERRHNYTTPKSFL
EQISLFKNLLKKKQNEVSEKKERLVNGIQKLKTTASQVGDLKARLASQEAELQLRNHDAEALITKIGLQTEKVSR
EKTIADAEERKVTAIQTEVFQKQRECEADLLKAEPALVAATAALNTLNRVNLSELKAFPNPPIAVTNVTAAVMVL
LAPRGRVPKDRSWKAAKVFMGKVDDFLQALINYDKEHIPENCLKVVNEHYLKDPEFNPNLIRTKSFAAAGLCAWV
INIIKFYEVYCDVEPKRQALAQANLELAAATEKLEAIRKKLVDLDRNLSRLTASFEKATAEKVRCQEEVNQTNKT
IKLANRLVKELEAKKIRWGQSIKSFEAQEKTLCGDVLLTAAFVSYVGPFTRQYRQELVHCKWVPFLQQKVSIPLT
EGLDLISMLTDDATIAAWNNEGLPSDRMSTENAAILTHCERWPLVIDPQQQGIKWIKNKYGMDLKVTHLGQKGFL
NAIETALAFGDVILIENLEETIDPVLDPLLGRNTIKKGKYIRIGDKECEFNKNFRLILHTKLANPHYKPELQAQT
TLLNFTVTEDGLEAQLLAEVVSIERPDLEKLKLVLTKHQNDFKIELKYLEDDLLLRLSAAEGSFLDDTKLVERLE
ATKTTVAEIEHKVIEAKENERKINEARECYRPVAARASLLYFVINDLQKINPLYQFSLKAFNVLFHRAIEQADKV
EDMQGRISILMESITHAVFLYTSQALFEKDKLTFLSQMAFQILLRKKEIDPLELDFLLRFTVEHTHLSPVDFLTS
QSWSAIKAIAVMEEFRGIDRDVEGSAKQWRKWVESECPEKEKLPQEWKKKSLIQKLILLRAMRPDRMTYALRNFV
EEKLGAKYVERTRLDLVKAFEESSPATPIFFILSPGVDALKDLEILGKRLGFTIDSGKFHNVSLGQGQETVAEVA
LEKASKGGHWVILQNVHLVAKWLGTLEKLLERFSQGSHRDYRVFMSAESAPTPDEHIIPQGLLENSIKITNEPPT
GMLANLHAALYNFDQDTLEICSKEQEFKSILFSLCYFHACVAGRLRFGPQGWSRSYPFNPGDLTICASVLYNYLE
ANSKVPWEDLRYLFGEIMYGGHITDDWDRKLCRVYLEEFMNPSLTEDELMLAPGFAAPPYLDYAGYHQYIEEMLP
PESPALYGLHPNAEIEFLTVTSNTLFRTLLEMQPRNALSGDELGQSTEEKVKNVLDDILEKLPEEFNMAEIMQKN
SNRSPYVLVCFQECERMNILIREIRISLEQLDLSLKGELALSPAVEAQQFALSYDTVPDTWSKLAYPSTYGLAQW
FNDLLLRCRELDTWTQDLTLPAVVWLSGFFNPQSFLTAIMQTMARKNEWPLDKTRLTADVTKKTKEDYGHPPREG
AYLHGLFMEGARWDTQAGTIVEARLKELACPMPVIFAKATPVDRQETKQTYECPVYRTKLRGPSYIWTFRLKSEE
KTAKWVLAGVALLLEA

Structural information

Interpro:	IPR003593 IPR035699 IPR011704 IPR035706 IPR026983 IPR024743 IPR024317 IPR004273 IPR013594 IPR013602 IPR027417
STRING:	ENSP00000330671

Other Databases

GeneCards: DNAH11 Malacards: DNAH11

Gene ontology

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GO accession	Term name	Evidence code	Go category
GO:0003341	cilium movement	IEA	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0003777	microtubule motor activit y	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007507	heart development	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0030286	dynein complex	IEA	cellular component
GO:0030317	flagellated sperm motilit y	IMP	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0003341	cilium movement	IEA	biological process
GO:0003341	cilium movement	IEA	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0003774	motor activity	IEA	molecular function
GO:0003777	microtubule motor activit y	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
GO:0005874	microtubule	IEA	cellular component
GO:0005929	cilium	IEA	cellular component
GO:0007018	microtubule-based movemen t	IEA	biological process
GO:0007368	determination of left/rig ht symmetry	IEA	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007507	heart development	IEA	biological process
GO:0016887	ATPase activity	IEA	molecular function
GO:0030286	dynein complex	IEA	cellular component
GO:0030286	dynein complex	IEA	cellular component
GO:0030317	flagellated sperm motilit y	IMP	biological process
GO:0042995	cell projection	IEA	cellular component
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0003356	regulation of cilium beat frequency	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0007368	determination of left/rig ht symmetry	IMP	biological process
GO:0030317	flagellated sperm motilit y	IMP	biological process

KEGG pathways

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Pathway id	Pathway name
hsa05016	Huntington disease

Diseases

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Associated diseases	References
Cancer	GAD: 22120009
Cancer (myeloma)	GAD: 22120009
Cardiovascular disease	GAD: 19060911
Coronary heart disease	GAD: 19060911
Primary ciliary dyskinesia	KEGG: H00564
Alzheimer's disease	GAD: 21116278
Non-syndromic asthenozoospermia	MIK: 18492703
Asthenozoospermia	GAD: 18492703
Kartagener Syndrome	GAD: 18492703
Non-syndromic asthenozoospermia	MIK: 18492703

PubMed references

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PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes	Abstract
18492703	Non-syndro mic asthen ozoospermi a	DNAI1 (CGC>TGC;R663C, GCT>TCT;A8S, GTC>ATC;V335I), DNAH5 (GAA>AAA; E1756K, GAG>GAT; E2666D, CGG>CGT; R1458R, GCC>GCT;A1724A, ACG>ACA;T2966T, ACA>ACG;T3491T, GCC>GCT;A4357A), DNAH11 (ATT>GTT;I3040V, CGG>CAG;R3004Q)		290 (90 patient s with isolated non-syndromic AZS, 200 contro ls)	Male infertility	DNAH11	Show abstract

Male Infertility knowledgebase

A repository with genes crucial for male fertility

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Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways

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Diseases

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PubMed references

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Male Infertility knowledgebase

A repository with genes crucial for male fertility

Search Result

Gene Summary

SNPs

Protein Summary

Gene ontology

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KEGG pathways Expand All | Collapse All

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Diseases Expand All | Collapse All

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PubMed references

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KEGG pathways

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Diseases

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