• Gene id: 22

Gene Summary

• Gene Symbol: ABCB7   Gene   UCSC   Ensembl
• Aliases: ABC7, ASAT, Atm1p, EST140535
• Gene name: ATP binding cassette subfamily B member 7
• Alternate names: ATP-binding cassette sub-family B member 7, mitochondrial, ABC transporter 7 protein, ATP-binding cassette transporter 7, ATP-binding cassette, sub-family B (MDR/TAP), member 7,
• Gene location: Xq13.3 (75156282: 75051047)     Exons: 16     NC_000023.11
• Gene summary(Entrez): The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct
• OMIM: 112203

SNPs

rs587777432

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

NC_000017.11   g.4744210_4744213AACA[1]
NC_000017.10   g.4647505_4647508AACA[1]
NG_034160.1   g.9196_9199AACA[1]
NM_001136046.3   c.1516_1519AACA[1]
NM_001136046.2   c.1516_1519AACA[1]
NM_032265.2   c.1399_1402AACA[1]
NM_001267822.1   c.1516_1519AACA[1]
XM_0170252  

rs397515340

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

NC_000006.12   g.43670919_43670921GAA[1]
NC_000006.12   g.43670919_43670921GAA[3]
NC_000006.11   g.43638656_43638658GAA[1]
NC_000006.11   g.43638656_43638658GAA[3]
NG_023436.1   g.30890_30892GAA[1]
NG_023436.1   g.30890_30892GAA[3]
NM_152732.5   c.801_803GAA[1]
NM  

rs11703684

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

NC_000022.11   g.24748945C>G
NC_000022.11   g.24748945C>T
NC_000022.10   g.25144912C>G
NC_000022.10   g.25144912C>T
NM_001008496.3   c.1411G>C
NM_001008496.3   c.1411G>A
NR_045648.1   n.2042G>C
NR_045648.1   n.2042G>A
NR_045649.1   n.1915A>G
NR_045649.1   n.1915A>C
NM_0  

rs3129878

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

NC_000006.12   g.32440958A>C
NC_000006.11   g.32408735A>C
NT_113891.3   g.3879082C>A
NT_113891.2   g.3879188C>A
NG_002392.2   g.5293C>A
NT_167248.2   g.3664005A>C
NT_167248.1   g.3669601A>C
NT_167245.2   g.3681261A>C
NT_167245.1   g.3686846A>C
NT_167249.2   g.3756099A>C

rs2274911

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

NC_000006.12   g.116809541G>A
NC_000006.12   g.116809541G>C
NC_000006.11   g.117130704G>A
NC_000006.11   g.117130704G>C
NM_148963.3   c.271C>T
NM_148963.3   c.271C>G
NM_148963.4   c.271C>T
NM_148963.4   c.271C>G
NM_148963.2   c.271C>T
NM_148963.2   c.271C>G
XM_017010475  

rs2231599

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

NC_000001.11   g.86574546A>G
NC_000001.10   g.87040229A>G
NM_012128.4   c.1474A>G
NM_012128.3   c.1474A>G
XM_011541015.2   c.1321A>G
NR_024602.1   n.1409A>G
NR_024602.2   n.1407A>G
NP_036260.2   p.Ser492Gly
XP_011539317.1   p.Ser441Gly|SEQ=[A/G]|GENE=CLCA4
CLCA4  

rs7910927

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

NC_000010.11   g.63379150T>A
NC_000010.11   g.63379150T>G
NC_000010.10   g.65138910T>A
NC_000010.10   g.65138910T>G
NG_053187.1   g.147926A>T
NG_053187.1   g.147926A>C|SEQ=[T/A/G]|GENE=JMJD1C

rs10822184

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

NC_000010.11   g.63577393T>C
NC_000010.11   g.63577393T>G
NC_000010.10   g.65337153T>C
NC_000010.10   g.65337153T>G|SEQ=[T/C/G]|GENE=REEP3

rs79822589

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

NC_000001.11   g.86565961T>C
NC_000001.10   g.87031644T>C
NM_012128.4   c.895T>C
NM_012128.3   c.895T>C
XM_011541015.2   c.742T>C
NR_024602.1   n.830T>C
NR_024602.2   n.828T>C|SEQ=[T/C]|GENE=CLCA4

rs763334876

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

NC_000001.11   g.86567425G>A
NC_000001.10   g.87033108G>A
NM_012128.4   c.956G>A
NM_012128.3   c.956G>A
XM_011541015.2   c.803G>A
NR_024602.1   n.891G>A
NR_024602.2   n.889G>A
NP_036260.2   p.Gly319Asp
XP_011539317.1   p.Gly268Asp|SEQ=[G/A]|GENE=CLCA4

rs759981524

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

NC_000001.11   g.86579956A>C
NC_000001.11   g.86579956A>G
NC_000001.11   g.86579956A>T
NC_000001.10   g.87045639A>C
NC_000001.10   g.87045639A>G
NC_000001.10   g.87045639A>T
NM_012128.4   c.2371A>C
NM_012128.4   c.2371A>G
NM_012128.4   c.2371A>T
NM_012128.3   c.2371A>C
  

rs757773924

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

NC_000001.11   g.86578055C>G
NC_000001.11   g.86578055C>T
NC_000001.10   g.87043738C>G
NC_000001.10   g.87043738C>T
NM_012128.4   c.2105C>G
NM_012128.4   c.2105C>T
NM_012128.3   c.2105C>G
NM_012128.3   c.2105C>T
XM_011541015.2   c.1952C>G
XM_011541015.2   c.1952C>T
NR_0  

rs190628533

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

NC_000001.11   g.86560300C>T
NC_000001.10   g.87025983C>T
NM_012128.4   c.390C>T
NM_012128.3   c.390C>T
XM_011541015.2   c.237C>T
NR_024602.1   n.434C>T
NR_024602.2   n.432C>T|SEQ=[C/T]|GENE=CLCA4

rs2369679

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

NC_000014.9   g.96456415C>G
NC_000014.9   g.96456415C>T
NC_000014.8   g.96922752C>G
NC_000014.8   g.96922752C>T
NG_054631.1   g.69305C>G
NG_054631.1   g.69305C>T
NM_152327.5   c.1167C>G
NM_152327.5   c.1167C>T
NM_152327.4   c.1167C>G
NM_152327.4   c.1167C>T
NM_152327.3  

rs7194

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

NC_000006.12   g.32444703G>A
NC_000006.12   g.32444703G>C
NC_000006.11   g.32412480G>A
NC_000006.11   g.32412480G>C
NT_113891.3   g.3882792G>A
NT_113891.3   g.3882792G>C
NT_113891.2   g.3882898G>A
NT_113891.2   g.3882898G>C
NG_002392.2   g.9003G>A
NG_002392.2   g.9003G>

rs1555633

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

NC_000013.11   g.31781295T>A
NC_000013.11   g.31781295T>G
NC_000013.10   g.32355432T>A
NC_000013.10   g.32355432T>G
NG_015819.1   g.46754T>A
NG_015819.1   g.46754T>G|SEQ=[T/A/G]|GENE=RXFP2

rs7325513

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

NC_000013.11   g.31786410A>C
NC_000013.11   g.31786410A>G
NC_000013.11   g.31786410A>T
NC_000013.10   g.32360547A>C
NC_000013.10   g.32360547A>G
NC_000013.10   g.32360547A>T
NG_015819.1   g.51869A>C
NG_015819.1   g.51869A>G
NG_015819.1   g.51869A>T
NM_130806.5   c.957A>

rs3021522

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

NC_000012.12   g.2799979C>G
NC_000012.11   g.2909145C>G|SEQ=[C/G]|GENE=FKBP4
ITFG2-AS1   283440

rs3747052

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

NC_000022.11   g.19131479A>G
NC_000022.11   g.19131479A>T
NC_000022.10   g.19118992A>G
NC_000022.10   g.19118992A>T
NG_008320.1   g.18199T>C
NG_008320.1   g.18199T>A
NM_022719.3   c.*2717T>C
NM_022719.3   c.*2717T>A
NM_022719.2   c.*2717T>C
NM_022719.2   c.*2717T>A
NR_1  

rs1052756

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

NC_000022.11   g.19132173C>T
NC_000022.10   g.19119686C>T
NG_008320.1   g.17505G>A
NM_022719.3   c.*2023G>A
NM_022719.2   c.*2023G>A
NR_134304.2   n.3542G>A
NR_134304.1   n.3568G>A
NM_053006.5   c.774C>T
NM_053006.4   c.774C>T|SEQ=[C/T]|GENE=ESS2
TSSK2   23617

rs1052763

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

NC_000022.11   g.19132238C>T
NC_000022.10   g.19119751C>T
NG_008320.1   g.17440G>A
NM_022719.3   c.*1958G>A
NM_022719.2   c.*1958G>A
NR_134304.2   n.3477G>A
NR_134304.1   n.3503G>A
NM_053006.5   c.839C>T
NM_053006.4   c.839C>T
NP_443732.3   p.Thr280Met|SEQ=[C/T]|GENE=ES

rs1052773

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

NC_000022.11   g.19132425G>A
NC_000022.10   g.19119938G>A
NG_008320.1   g.17253C>T
NM_022719.3   c.*1771C>T
NM_022719.2   c.*1771C>T
NR_134304.2   n.3290C>T
NR_134304.1   n.3316C>T
NM_053006.5   c.1026G>A
NM_053006.4   c.1026G>A|SEQ=[G/A]|GENE=ESS2
TSSK2   23617

Protein Summary

• Protein general information: O75027  
  • Name: ATP binding cassette sub family B member 7, mitochondrial (ATP binding cassette transporter 7) (ABC transporter 7 protein)
  • Length: 752  
  • Mass: 82641
• Sequence:

  MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPESLKSITWQRLGKGNSG
  QFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKIIKAMLSYVWPKDRPDLRARVAISLGFLGGA
  KAMNIVVPFMFKYAVDSLNQMSGNMLNLSDAPNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRI
  AKNVFLHLHNLDLGFHLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGT
  LGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFLKTYETASLKSTSTLA
  MLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQLSLPLNFLGTVYRETRQALIDMNTLFTLLKV
  DTQIKDKVMASPLQITPQTATVAFDNVHFEYIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQ
  KGSIYLAGQNIQDVSLESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDT
  QVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTSIFIAHRLSTVVDADE
  IIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKWEAKKENISKEEERKKLQEEIVNSVKGCGNC
  SC

• Structural information:
  • Protein Domains: (140..43-)
    type-1 (/note="ABC-transmembrane)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00441-)
    (472..70-)
    (/note="ABC-transporter)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00434"-)
  • Interpro: IPR003593  IPR011527  IPR036640  IPR003439  IPR017871   IPR027417  IPR039421  
  • Prosite: PS50929 PS00211 PS50893
  • STRING: ENSP00000253577
• Other Databases: GeneCards:  ABCB7  Malacards:  ABCB7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0006879	cellular iron ion homeostasis	IBA	biological process
GO:0042626	ATPase-coupled transmembrane transporter activity	IBA	molecular function
GO:0005743	mitochondrial inner membrane	IBA	cellular component
GO:0055085	transmembrane transport	IBA	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	IEA	molecular function
GO:0005524	ATP binding	IEA	molecular function
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016887	ATPase activity	IEA	molecular function
GO:0055085	transmembrane transport	IEA	biological process
GO:0000166	nucleotide binding	IEA	molecular function
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005524	ATP binding	IEA	molecular function
GO:0005739	mitochondrion	IEA	cellular component
GO:0015232	heme transmembrane transporter activity	TAS	molecular function
GO:0042626	ATPase-coupled transmembrane transporter activity	TAS	molecular function
GO:0005524	ATP binding	TAS	molecular function
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0005743	mitochondrial inner membrane	TAS	cellular component
GO:0055085	transmembrane transport	TAS	biological process
GO:0006879	cellular iron ion homeostasis	IEA	biological process
GO:0005743	mitochondrial inner membrane	IEA	cellular component
GO:0015886	heme transport	IEA	biological process
GO:0005743	mitochondrial inner membrane	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa02010	ABC transporters

Diseases

Associated diseases	References
Sideroblastic anemia	KEGG:H00982
Sideroblastic anemia	KEGG:H00982
X-linked sideroblastic anemia with ataxia	PMID:11843825
X-linked sideroblastic anemia with ataxia	PMID:10196363
X-linked sideroblastic anemia with ataxia	PMID:11050011
Sideroblastic anemia	PMID:18398482
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray