Homo sapiens Gene: ABCA2
Summary
InnateDB Gene IDBG-92973.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCA2
Gene Name ATP-binding cassette, sub-family A (ABC1), member 2
Synonyms ABC2
Species Homo sapiens
Ensembl Gene ENSG00000107331
Encoded Proteins
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
ATP-binding cassette, sub-family A (ABC1), member 2
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 9:137007227-137028922
Strand Reverse strand
Band q34.3
Transcripts
ENST00000341511 ENSP00000344155
ENST00000265662 ENSP00000265662
ENST00000371605 ENSP00000360666
ENST00000398207
ENST00000437791
ENST00000431584
ENST00000425423
ENST00000479446 ENSP00000420084
ENST00000487109 ENSP00000418662
ENST00000459850
ENST00000464520
ENST00000490486 ENSP00000420360
ENST00000464157
ENST00000463603
ENST00000488535 ENSP00000419850
ENST00000466707
ENST00000492260
ENST00000470535 ENSP00000420289
ENST00000467624
ENST00000464876
ENST00000494046
ENST00000476211
ENST00000625103 ENSP00000485459
ENST00000614293 ENSP00000481105
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 3 experimentally validated interaction(s) in this database.
Experimentally validated
Total 3 [view]
Protein-Protein 3 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000166 nucleotide binding
GO:0005524 ATP binding
GO:0016887 ATPase activity
GO:0042626 ATPase activity, coupled to transmembrane movement of substances
Biological Process
GO:0006200 ATP catabolic process
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006629 lipid metabolic process
GO:0006810 transport
GO:0032383 regulation of intracellular cholesterol transport
GO:0042493 response to drug
GO:0042632 cholesterol homeostasis
GO:0048545 response to steroid hormone
GO:0055085 transmembrane transport
Cellular Component
GO:0005764 lysosome
GO:0005765 lysosomal membrane
GO:0005768 endosome
GO:0005815 microtubule organizing center
GO:0010008 endosome membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0016023 cytoplasmic membrane-bounded vesicle
GO:0043190 ATP-binding cassette (ABC) transporter complex
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Not yet available
Pathways
NETPATH
REACTOME
ABCA transporters in lipid homeostasis pathway
ABC-family proteins mediated transport pathway
Transmembrane transport of small molecules pathway
KEGG
ABC transporters pathway
Lysosome pathway
INOH
PID NCI
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene 20
UniGene Hs.421202 Hs.679065
RefSeq NM_001606 NM_212533 XM_006716996
HUGO HGNC:32
OMIM 600047
CCDS CCDS43909
HPRD 08967
IMGT
EMBL
GenPept
RNA Seq Atlas 20