ABCA2 - ATP binding cassette subfamily A member 2 Gene

Also Known as ABC2; IDPOGSA

Species: Homo sapiens (human)

Gene Type: protein coding
Gene ID: 20

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 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. [provided by RefSeq, Jul 2008]

ABCA2 Products (1)

mRNA Protein Name
NM_001606.5 NP_001597.2 ATP-binding cassette sub-family A member 2 isoform a

Gene Ontology

  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence References Source
enables ATP binding IDA
IDA: Inferred from direct assay
15999530 GOA
enables ceramide floppase activity IDA
IDA: Inferred from direct assay
24201375 GOA
enables endopeptidase regulator activity IMP
IMP: Inferred from mutant phenotype
22086926 GOA
Biological Process GO Annotation Evidence References Source
involved in cholesterol homeostasis IEP
IEP: Inferred from expression pattern
15238223 GOA
involved in intracellular sphingolipid homeostasis IDA
IDA: Inferred from direct assay
26510981 GOA
acts upstream of negative regulation of cholesterol efflux IDA
IDA: Inferred from direct assay
21810484 GOA
acts upstream of negative regulation of intracellular cholesterol transport IDA
IDA: Inferred from direct assay
21810484 GOA
acts upstream of negative regulation of low-density lipoprotein receptor activity IDA
IDA: Inferred from direct assay
21810484 GOA
acts upstream of negative regulation of receptor-mediated endocytosis involved in cholesterol transport IDA
IDA: Inferred from direct assay
21810484 GOA
involved in positive regulation of amyloid precursor protein biosynthetic process IDA
IDA: Inferred from direct assay
20704561 GOA
acts upstream of positive regulation of amyloid precursor protein catabolic process IGI
IGI: Inferred from genetic interaction
20704561 GOA
acts upstream of positive regulation of amyloid precursor protein catabolic process IMP
IMP: Inferred from mutant phenotype
22086926 GOA
acts upstream of positive regulation of amyloid-beta formation IMP
IMP: Inferred from mutant phenotype
22086926 GOA
acts upstream of positive regulation of low-density lipoprotein particle receptor catabolic process IDA
IDA: Inferred from direct assay
21810484 GOA
NOT involved in regulation of cholesterol biosynthetic process IDA
IDA: Inferred from direct assay
21810484 GOA
involved in regulation of intracellular cholesterol transport IMP
IMP: Inferred from mutant phenotype
15238223 GOA
acts upstream of regulation of post-translational protein modification IMP
IMP: Inferred from mutant phenotype
22086926 GOA
acts upstream of regulation of steroid metabolic process IDA
IDA: Inferred from direct assay
24201375 GOA
involved in response to cholesterol IEP
IEP: Inferred from expression pattern
11178988 GOA
involved in response to steroid hormone IEP
IEP: Inferred from expression pattern
15238223 GOA
acts upstream of positive effect sphingosine biosynthetic process IDA
IDA: Inferred from direct assay
26510981 GOA
Cellular Component GO Annotation Evidence References Source
located in endosome IDA
IDA: Inferred from direct assay
11309290 GOA
located in endosome membrane IDA
IDA: Inferred from direct assay
15093135 GOA
located in lysosomal membrane IDA
IDA: Inferred from direct assay
15093135 GOA
located in lysosome IDA
IDA: Inferred from direct assay
11309290 GOA
located in membrane IDA
IDA: Inferred from direct assay
15999530 GOA
is active in plasma membrane IDA
IDA: Inferred from direct assay
24201375 GOA
located in plasma membrane IDA
IDA: Inferred from direct assay
23137377 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

ATP-binding cassette sub-family A member 2

  • ATP-binding cassette 2

  • ATP-binding cassette transporter 2

  • ATP-binding cassette, sub-family A (ABC1), member 2

  • ATP-binding cassette, sub-family A, member 2

Orthologs Information

Species Symbol Source ID
Mus musculus ABCA2 MGD MGI:99606
Rattus norvegicus ABCA2 RGD RGD:620238
Bos taurus ABCA2 VGNC VGNC:25457
Canis familiaris ABCA2 VGNC VGNC:37425
Macaca mulatta ABCA2 VGNC VGNC:69557
Others ABCA2 NCBI