help  | about  | cite  | software

Gene : ABCB7 Homo sapiens

Name  ? ATP binding cassette subfamily B member 7 Cytological Location  Xq13.3
Brief Description  ATP binding cassette subfamily B member 7
Description  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 subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This gene encodes a half-transporter involved in the transport of heme from the mitochondria to the cytosol. With iron/sulfur cluster precursors as its substrates, this protein may play a role in metal homeostasis. Mutations in this gene have been associated with mitochondrial iron accumulation and isodicentric (X)(q13) and sideroblastic anemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2012]
  • synonyms:
  • uc004ebz.5,
  • AF038950,
  • HGNC:48,
  • EST140535,
  • ABCB7,
  • ABC7,
  • EST140535,
  • NM_004299,
  • ATP-binding cassette, sub-family B (MDR/TAP), member 7,
  • ASAT,
  • Atm1p,
  • ASAT,
  • ABC7,
  • Atm1p,
  • OTTHUMG00000021862
  • identifiers:
  • 22,
  • ENSG00000131269,
  • ABCB7

Genome feature

Region: gene ? Length: 105236  
Location: X:75051048-75156283 reverse strand Cyto location: Xq13.3

Uni Prot Comments Displayer

Protein Atlas Displayer

Gene Expression Atlas Tissues Displayer

Gene Expression Atlas Diseases Displayer

Publication Counts Displayer

Curated Proteins Displayer


Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


J Browse Displayer

Gene Structure Displayer

Overlapping Features Displayer

Mouse Alleles Displayer

Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


Cytoscape Network Displayer

Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SNPs

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results