Homo sapiens Protein: ABCA2
Summary
InnateDB Protein IDBP-92981.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ABCA2
Protein Name ATP-binding cassette, sub-family A (ABC1), member 2
Synonyms ABC2;
Species Homo sapiens
Ensembl Protein ENSP00000360666
InnateDB Gene IDBG-92973 (ABCA2)
Protein Structure
UniProt Annotation
Function Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development.
Subcellular Localization Endosome membrane {ECO:0000269PubMed:11309290}; Multi-pass membrane protein {ECO:0000269PubMed:11309290}. Lysosome membrane {ECO:0000269PubMed:11309290}; Multi-pass membrane protein {ECO:0000269PubMed:11309290}. Note=Forms discrete, punctate intracellular vesicles.
Disease Associations
Tissue Specificity Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver. {ECO:0000269PubMed:11309290}.
Comments
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
Protein Structure and Domains
PDB ID
InterPro IPR003439 ABC transporter-like
IPR003593 AAA+ ATPase domain
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00005
PRINTS
PIRSF
SMART SM00382
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt Q9BZC7
PhosphoSite PhosphoSite-Q9BZC7
TrEMBL Q9UPU0
UniProt Splice Variant
Entrez Gene 20
UniGene Hs.679065
RefSeq XP_006717059
HUGO HGNC:32
OMIM 600047
CCDS
HPRD 08967
IMGT
EMBL AB028985 AB177854 AF178941 AF327657 AF327658 AF327659 AF327660 AF327661 AF327662 AF327663 AF327664 AF327665 AF327666 AF327667 AF327668 AF327669 AF327670 AF327671 AF327672 AF327673 AF327674 AF327675 AF327676 AF327677 AF327678 AF327679 AF327680 AF327681 AF327682 AF327683 AF327684 AF327685 AF327686 AF327687 AF327688 AF327689 AF327690 AF327691 AF327692 AF327693 AF327694 AF327695 AF327696 AF327697 AF327698 AF327699 AF327700 AF327701 AF327702 AF327703 AF327704 AF327705 AK295489 AL162060 AL807752
GenPept AAG09372 AAK14334 AAK14335 BAA83014 BAD66832 BAG58411 CAB82398 CAI12768