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 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].

ATP binding cassette subfamily B member 7MIM:300135Ensembl:ENSG00000131269HGNC:HGNC:48PA24389Xq13.3

GO terms in ABCB7

Term TypeEvidence TypeGO Term IDGO Des.
MFIEAGO:0005524ATP binding
MFTASGO:0015232heme transporter activity
MFIEAGO:0042626ATPase activity, coupled to transmembrane movement of substances
BPIBAGO:0006879cellular iron ion homeostasis
BPIEAGO:0015886heme transport
BPTASGO:0055085transmembrane transport
CCIBAGO:0005743mitochondrial inner membrane
CCIDAGO:0005743mitochondrial inner membrane
CCTASGO:0005743mitochondrial inner membrane
CCIEAGO:0016021integral component of membrane

Gene expression in normal tissue: ABCB7

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ABCB7

DatabasePathway IDPathway Des.
kegghsa02010ABC transporters - Homo sapiens (human)
reactomeR-HSA-1369007Mitochondrial ABC transporters
reactomeR-HSA-2564830Cytosolic iron-sulfur cluster assembly
reactomeR-HSA-382551Transport of small molecules
reactomeR-HSA-382556ABC-family proteins mediated transport

Gene-Drug: Aster Plot

Drug IDDrug NameModel Num.

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ABCB7