Format

Send to:

Choose Destination
    • Showing Current items.

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

    Gene ID: 20, updated on 15-Sep-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 
    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 (2) summary
      TIGR01257
      Location:12367
      rim_protein; retinal-specific rim ABC transporter
      cd03263
      Location:20502273
      ABC_subfamily_A; ATP-binding cassette domain of the lipid transporters, subfamily A

    RNA

    1. XR_001746224.1 RNA Sequence

      Related
      ENST00000459850.5
    Support Center