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ABCA2 ATP binding cassette subfamily A member 2 [ Homo sapiens (human) ]

Gene ID: 20, updated on 5-Jan-2022

Summary

Official Symbol
ABCA2provided by HGNC
Official Full Name
ATP binding cassette subfamily A member 2provided by HGNC
Primary source
HGNC:HGNC:32
See related
Ensembl:ENSG00000107331 MIM:600047
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
ABC2; IDPOGSA
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]
Expression
Broad expression in brain (RPKM 47.6), thyroid (RPKM 9.5) and 20 other tissues See more
Orthologs
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Genomic context

See ABCA2 in Genome Data Viewer
Location:
9q34.3
Exon count:
49
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (137007234..137028922, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (139901686..139923374, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene PAXX non-homologous end joining factor Neighboring gene chloride intracellular channel 3 Neighboring gene long intergenic non-protein coding RNA 2908 Neighboring gene fucosyltransferase 7 Neighboring gene neural proliferation, differentiation and control 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC129761

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables ABC-type transporter activity IEA
Inferred from Electronic Annotation
more info
 
enables ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
enables ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
enables ATPase-coupled transmembrane transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables ATPase-coupled transmembrane transporter activity NAS
Non-traceable Author Statement
more info
PubMed 
enables ceramide floppase activity IDA
Inferred from Direct Assay
more info
PubMed 
enables endopeptidase regulator activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
enables lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables nucleotide binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
involved_in cellular sphingolipid homeostasis IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within central nervous system myelin formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in central nervous system myelin formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in ceramide translocation IDA
Inferred from Direct Assay
more info
PubMed 
involved_in cholesterol homeostasis IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in ganglioside metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in glycosphingolipid metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
involved_in lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in locomotory behavior ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of negative regulation of cholesterol efflux IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of negative regulation of cholesterol esterification IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of negative regulation of cholesterol esterification ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
acts_upstream_of negative regulation of intracellular cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of negative regulation of low-density lipoprotein receptor activity IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of phospholipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of negative regulation of receptor-mediated endocytosis involved in cholesterol transport IDA
Inferred from Direct Assay
more info
PubMed 
involved_in negative regulation of sphingolipid biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in positive regulation of amyloid precursor protein biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of positive regulation of amyloid precursor protein catabolic process IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of positive regulation of amyloid precursor protein catabolic process IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of positive regulation of amyloid-beta formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in positive regulation of amyloid-beta formation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
acts_upstream_of positive regulation of low-density lipoprotein particle receptor catabolic process IDA
Inferred from Direct Assay
more info
PubMed 
NOT involved_in regulation of cholesterol biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of regulation of cholesterol esterification IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of regulation of cholesterol esterification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of endopeptidase activity IEA
Inferred from Electronic Annotation
more info
 
involved_in regulation of intracellular cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of intracellular cholesterol transport ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of regulation of post-translational protein modification IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in regulation of protein glycosylation ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of protein localization to cell periphery ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of protein localization to cell surface ISS
Inferred from Sequence or Structural Similarity
more info
PubMed 
involved_in regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
involved_in response to cholesterol IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to steroid hormone IEP
Inferred from Expression Pattern
more info
PubMed 
involved_in response to xenobiotic stimulus TAS
Traceable Author Statement
more info
PubMed 
involved_in sphingomyelin metabolic process ISS
Inferred from Sequence or Structural Similarity
more info
 
acts_upstream_of_positive_effect sphingosine biosynthetic process IDA
Inferred from Direct Assay
more info
PubMed 
involved_in transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
involved_in transport across blood-brain barrier NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
part_of ATP-binding cassette (ABC) transporter complex NAS
Non-traceable Author Statement
more info
PubMed 
located_in cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in endosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in endosome membrane IEA
Inferred from Electronic Annotation
more info
 
located_in integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
is_active_in intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in lysosomal membrane ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in lysosomal membrane NAS
Non-traceable Author Statement
more info
PubMed 
located_in lysosome IDA
Inferred from Direct Assay
more info
PubMed 
located_in membrane HDA PubMed 
located_in microtubule organizing center ISS
Inferred from Sequence or Structural Similarity
more info
 
is_active_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 
located_in plasma membrane IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
ATP-binding cassette sub-family A member 2
Names
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

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011789.1 RefSeqGene

    Range
    5001..26689
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001606.5NP_001597.2  ATP-binding cassette sub-family A member 2 isoform a

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longer transcript and encodes the predominant isoform (a).
    Source sequence(s)
    AF178941, AL525193, AL807752, BC029282, BE273611, BF516223, BM474929, BM921499, CD676110, DB168116
    Consensus CDS
    CCDS43909.1
    UniProtKB/Swiss-Prot
    Q9BZC7
    Related
    ENSP00000344155.6, ENST00000341511.11
    Conserved Domains (2) summary
    TIGR01257
    Location:12368
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:20512274
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A
  2. NM_212533.3NP_997698.1  ATP-binding cassette sub-family A member 2 isoform b

    See identical proteins and their annotated locations for NP_997698.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR and coding region compared to variant 1. The resulting isoform (b) is longer and has a distinct N-terminus compared to isoform a.
    Source sequence(s)
    AF178941, AL525193, AL807752, BC029282, BE273611, BF516223, BM474929, BM921499, DB168116
    UniProtKB/Swiss-Prot
    Q9BZC7
    Related
    ENSP00000481105.2, ENST00000614293.5
    Conserved Domains (2) summary
    TIGR01257
    Location:582398
    rim_protein; retinal-specific rim ABC transporter
    cd03263
    Location:20812304
    ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    137007234..137028922 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006716996.4XP_006717059.1  ATP-binding cassette sub-family A member 2 isoform X1

    Related
    ENSP00000360666.3, ENST00000371605.7
    Conserved Domains (1) summary
    cl28181
    Location:12367
    AAA; ATPases associated with a variety of cellular activities

RNA

  1. XR_001746224.1 RNA Sequence

    Related
    ENST00000459850.5
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