ABCB7 (ATP binding cassette subfamily B member 7)

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 22
Gene name ATP binding cassette subfamily B member 7
Gene symbol ABCB7
Synonyms (NCBI Gene)
ABC7ASATAtm1pEST140535
Chromosome X
Chromosome location Xq13.3
Summary 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
SNPs SNP information provided by dbSNP.
8
Gene SNPs Other IDs Associated diseases
Show/Hide all (8)
SNP ID Visualize variation Clinical significance Consequence
rs1133577 C>A,T Likely-pathogenic Coding sequence variant, missense variant
rs72554634 A>C,T Pathogenic Coding sequence variant, synonymous variant, missense variant
rs80356713 C>A,G Pathogenic Coding sequence variant, missense variant
rs80356714 C>T Pathogenic Coding sequence variant, missense variant
rs515726147 T>A Pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
80
Gene SNPs Other IDs Associated diseases
Show/Hide all (80)
miRTarBase ID miRNA Experiments Reference
MIRT019397 hsa-miR-148b-3p Microarray 17612493
MIRT023677 hsa-miR-1-3p Proteomics 18668040
MIRT051202 hsa-miR-16-5p CLASH 23622248
MIRT050748 hsa-miR-17-3p CLASH 23622248
MIRT050056 hsa-miR-26a-5p CLASH 23622248
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
41
Gene SNPs Other IDs Associated diseases
Show/Hide all (41)
GO ID Ontology Definition Evidence Reference
GO:0000166 Function Nucleotide binding IEA
GO:0005515 Function Protein binding IPI 25063848, 30765471
GO:0005524 Function ATP binding IEA
GO:0005524 Function ATP binding TAS 9621516
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
300135 48 ENSG00000131269
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O75027
Protein name Iron-sulfur clusters transporter ABCB7, mitochondrial (ATP-binding cassette sub-family B member 7, mitochondrial) (ATP-binding cassette transporter 7) (ABC transporter 7 protein)
Protein function Exports glutathione-coordinated iron-sulfur clusters such as [2Fe-2S]-(GS)4 cluster from the mitochondria to the cytosol in an ATP-dependent manner allowing the assembly of the cytosolic iron-sulfur (Fe/S) cluster-containing proteins and partici
PDB 7VGF
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00664 ABC_membrane 140 → 424 ABC transporter transmembrane region Family
PF00005 ABC_tran 488 → 637 ABC transporter Domain
Sequence 
MALLAMHSWRWAAAAAAFEKRRHSAILIRPLVSVSGSGPQWRPHQLGALGTARAYQIPES
LKSITWQRLGKGNSGQFLDAAKALQVWPLIEKRTCWHGHAGGGLHTDPKEGLKDVDTRKI
IKAMLSYVWPKDRPDLRARVAISLGFLGGAKAMNIVVPFMFKYAVDSLNQMSGNMLNLSD
APNTVATMATAVLIGYGVSRAGAAFFNEVRNAVFGKVAQNSIRRIAKNVFLHLHNLDLGF
HLSRQTGALSKAIDRGTRGISFVLSALVFNLLPIMFEVMLVSGVLYYKCGAQFALVTLGT
LGTYTAFTVAVTRWRTRFRIEMNKADNDAGNAAIDSLLNYETVKYFNNERYEAQRYDGFL
KTYETASLKSTSTLAMLNFGQSAIFSVGLTAIMVLASQGIVAGTLTVGDLVMVNGLLFQL
SLPLNFLGTVYRETRQALIDMNTLFTLLKVDTQIKDKVMASPLQITPQTATVAFDNVHFE
YIEGQKVLSGISFEVPAGKKVAIVGGSGSGKSTIVRLLFRFYEPQKGSIYLAGQNIQDVS
LESLRRAVGVVPQDAVLFHNTIYYNLLYGNISASPEEVYAVAKLAGLHDAILRMPHGYDT
QVGERGLKLSGGEKQRVAIARAILKDPPVILYDEATSSLDSITEETILGAMKDVVKHRTS
IFIAHRLSTVVDADEIIVLDQGKVAERGTHHGLLANPHSIYSEMWHTQSSRVQNHDNPKW
EAKKENISKEEERKKLQEEIVNSVKGCGNCSC
Sequence length 752
Interactions View interactions
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
91
Gene SNPs Other IDs Associated diseases
Show/Hide Causal Diseases (3)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Nonpapillary renal cell carcinoma Likely pathogenic rs762876355 RCV005939494
Spinocerebellar ataxia, X-linked Likely pathogenic rs797044558 RCV000190539
X-linked sideroblastic anemia with ataxia Pathogenic; Likely pathogenic rs515726147, rs72554634, rs80356714, rs80356713, rs762876355, rs1057518042 RCV000114380
RCV000012330
RCV000012331
RCV000012332
RCV004547420
RCV004584290
RCV000578445
Show/Hide Unknown Diseases (26)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ABCB7-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance rs147584361, rs5937938, rs139311518, rs61323727, rs143380072, rs2519829244, rs949445106, rs2519957054, rs150273961, rs769334662, rs759437344 RCV003935179
RCV003905184
RCV003947628
RCV003977541
RCV003955187
RCV003412460
RCV003399835
RCV003919236
RCV003953093
RCV003948331
RCV003950370
Acute myeloid leukemia Conflicting classifications of pathogenicity rs61323727 RCV005893457
Adrenocortical carcinoma, hereditary Conflicting classifications of pathogenicity rs61323727 RCV005893461
Cervical cancer Conflicting classifications of pathogenicity rs61323727 RCV005893462
Show/Hide Text Mining Associations (21)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Anemia Refractory Associate 19692701, 23070040
Anemia Sideroblastic Associate 18398482, 26242992, 34861039, 36028755
Anemia sideroblastic spinocerebellar ataxia Associate 11050011, 17192393, 18398482, 30765471
Ataxia Associate 11843825, 26242992
Atrophy Associate 26242992
Breast Neoplasms Associate 37905302
Cerebellar Ataxia Associate 11843825, 26242992
Cerebellar Diseases Associate 26242992
Cerebellar Hypoplasia Associate 26242992
Crohn Disease Inhibit 35872023