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

Gene ID: 20, updated on 3-Nov-2018

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; Vega:OTTHUMG00000020958
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
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

Genomic context

See ABCA2 in Genome Data Viewer
Location:
9q34.3
Exon count:
50
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 9 NC_000009.12 (137007234..137028922, complement)
105 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 chromosome 9 open reading frame 139 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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Pathways from BioSystems

  • ABC transporters, organism-specific biosystem (from KEGG)
    ABC transporters, organism-specific biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters, conserved biosystem (from KEGG)
    ABC transporters, conserved biosystemThe ATP-binding cassette (ABC) transporters form one of the largest known protein families, and are widespread in bacteria, archaea, and eukaryotes. They couple ATP hydrolysis to active transport of ...
  • ABC transporters in lipid homeostasis, organism-specific biosystem (from REACTOME)
    ABC transporters in lipid homeostasis, organism-specific biosystemA defined subset of the ABC transporter superfamily, the ABCA transporters, are highly expressed in monocytes and macrophages and are regulated by cholesterol flux which may indicate their role in in...
  • ABC-family proteins mediated transport, organism-specific biosystem (from REACTOME)
    ABC-family proteins mediated transport, organism-specific biosystemThe ATP-binding cassette (ABC) superfamily of active transporters involves a large number of functionally diverse transmembrane proteins. They transport a variety of compounds through membranes agai...
  • Lysosome, organism-specific biosystem (from KEGG)
    Lysosome, organism-specific biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Lysosome, conserved biosystem (from KEGG)
    Lysosome, conserved biosystemLysosomes are membrane-delimited organelles in animal cells serving as the cell's main digestive compartment to which all sorts of macromolecules are delivered for degradation. They contain more than...
  • Transmembrane transport of small molecules, organism-specific biosystem (from REACTOME)
    Transmembrane transport of small molecules, organism-specific biosystem
    Transmembrane transport of small molecules

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
ATP binding IDA
Inferred from Direct Assay
more info
PubMed 
ATP binding ISS
Inferred from Sequence or Structural Similarity
more info
 
ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
ATPase activity, coupled to transmembrane movement of substances NAS
Non-traceable Author Statement
more info
PubMed 
lipid transporter activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleotide binding NAS
Non-traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
cholesterol homeostasis IEP
Inferred from Expression Pattern
more info
PubMed 
lipid metabolic process NAS
Non-traceable Author Statement
more info
PubMed 
lipid transport IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
regulation of intracellular cholesterol transport IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
response to cholesterol IEP
Inferred from Expression Pattern
more info
PubMed 
response to drug TAS
Traceable Author Statement
more info
PubMed 
response to steroid hormone IEP
Inferred from Expression Pattern
more info
PubMed 
transmembrane transport NAS
Non-traceable Author Statement
more info
PubMed 
Component Evidence Code Pubs
ATP-binding cassette (ABC) transporter complex NAS
Non-traceable Author Statement
more info
PubMed 
cytoplasmic vesicle ISS
Inferred from Sequence or Structural Similarity
more info
 
endosome IDA
Inferred from Direct Assay
more info
PubMed 
endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane IDA
Inferred from Direct Assay
more info
PubMed 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
lysosomal membrane NAS
Non-traceable Author Statement
more info
PubMed 
lysosome IDA
Inferred from Direct Assay
more info
PubMed 
membrane HDA PubMed 
microtubule organizing center ISS
Inferred from Sequence or Structural Similarity
more info
 

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)

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_001606.4NP_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, OTTHUMP00000022644, ENST00000341511.10, OTTHUMT00000055199
    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_212533.2NP_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
    ENSP00000481105.1, ENST00000614293.4
    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 Annotation Release 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p12 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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