ABCB7 (ATP binding cassette subfamily B member 7)

Gene
Gene SNPs Other IDs Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
22
Gene name Gene Name - the full gene name approved by the HGNC.
ATP binding cassette subfamily B member 7
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ABCB7
Synonyms (NCBI Gene) Gene synonyms aliases
ABC7, ASAT, Atm1p, EST140535
Chromosome Chromosome number
X
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
Xq13.3
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
Gene SNPs Other IDs Associated diseases
Show/Hide all(13)
GO ID Ontology Definition Evidence Reference
GO:0005515 Function Protein binding IPI 25063848
GO:0005524 Function ATP binding IEA
GO:0005743 Component Mitochondrial inner membrane IBA 21873635
GO:0005743 Component Mitochondrial inner membrane IDA
GO:0005743 Component Mitochondrial inner membrane TAS
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
300135 48 ENSG00000131269
Protein
Gene SNPs Other IDs Associated diseases
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (2)
Unknown
Disease term Disease name Evidence References Source
Sideroblastic Anemia, X-Linked X-linked sideroblastic anemia with ataxia GenCC
Mitochondrial Diseases mitochondrial disease GenCC
Show/Hide Text Mining Associations (21)
Associations from Text Mining
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