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
Aliases	ABCA2, ATP-binding cassette, sub-family A (ABC1), member 2, AI413825, Abc2, D2H0S1474E, mKIAA1062, ATP binding cassette subfamily A member 2, IDPOGSA
External IDs	OMIM: 600047; MGI: 99606; HomoloGene: 55590; GeneCards: ABCA2; OMA:ABCA2 - orthologs
Gene location (Human) Chr. Chromosome 9 (human)[1] Band 9q34.3 Start 137,007,234 bp[1] End 137,028,915 bp[1]
Gene location (Mouse) Chr. Chromosome 2 (mouse)[2] Band 2 A3|2 17.25 cM Start 25,318,715 bp[2] End 25,338,552 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in C1 segment right hemisphere of cerebellum right frontal lobe tibial nerve middle frontal gyrus Amygdala inferior ganglion of vagus nerve prefrontal cortex Hypothalamus sural nerve Top expressed in superior frontal gyrus primary visual cortex dentate gyrus of hippocampal formation granule cell cerebellar cortex choroid plexus of fourth ventricle perirhinal cortex central gray substance of midbrain entorhinal cortex CA3 field lumbar subsegment of spinal cord More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding transporter activity ATPase activity ATP binding lipid transporter activity Cellular component integral component of membrane endosome membrane ATP-binding cassette (ABC) transporter complex microtubule organizing center lysosomal membrane lysosome endosome membrane cytoplasmic vesicle intracellular membrane-bounded organelle Biological process regulation of intracellular cholesterol transport lipid metabolism regulation of transcription by RNA polymerase II response to steroid hormone cholesterol homeostasis transmembrane transport transport lipid transport response to cholesterol Sources:Amigo / QuickGO
Orthologs Species Human Mouse 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 Mb Chr 2: 25.32 – 25.34 Mb PubMed search [3] [4]
Wikidata
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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

• ATP-binding cassette transporter