ABCA2

ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ABCA2 gene.[5][6]

ABCA2
Identifiers
AliasesABCA2, ATP-binding cassette, sub-family A (ABC1), member 2, AI413825, Abc2, D2H0S1474E, mKIAA1062, ATP binding cassette subfamily A member 2, IDPOGSA
External IDsOMIM: 600047 MGI: 99606 HomoloGene: 55590 GeneCards: ABCA2
Gene location (Human)
Chr.Chromosome 9 (human)[1]
Band9q34.3Start137,007,234 bp[1]
End137,028,922 bp[1]
RNA expression pattern


More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

20

11305

Ensembl

ENSG00000107331

ENSMUSG00000026944

UniProt

Q9BZC7

P41234

RefSeq (mRNA)

NM_001606
NM_212533

NM_007379
NM_001368624

RefSeq (protein)

NP_001597
NP_997698

NP_031405
NP_001355553

Location (UCSC)Chr 9: 137.01 – 137.03 MbChr 2: 25.43 – 25.45 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

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 intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. This protein is highly expressed in brain tissue and may play a role in macrophage lipid metabolism and neural development. Two transcript variants encoding different isoforms have been found for this gene.[6]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000107331 - Ensembl, May 2017
  2. GRCm38: Ensembl release 89: ENSMUSG00000026944 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Luciani MF, Denizot F, Savary S, Mattei MG, Chimini G (Oct 1994). "Cloning of two novel ABC transporters mapping on human chromosome 9". Genomics. 21 (1): 150–9. doi:10.1006/geno.1994.1237. PMID 8088782.
  6. "Entrez Gene: ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2".

Further reading

This article incorporates text from the United States National Library of Medicine, which is in the public domain.


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