ABCA2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | ABCA2 |
| Official Name | ATP binding cassette subfamily A member 2 [Source:HGNC Symbol;Acc:HGNC:32] |
| Ensembl ID | ENSG00000107331 |
| Bio databases IDs | |
| Aliases | ATP binding cassette subfamily A member 2 |
| Synonyms | ABC2, ATP binding cassette subfamily A member 2, ATP-binding cassette, sub-family A member 2, D2H0S1474E, IDPOGSA, mKIAA1062 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human ABCA2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nickel import ATP-binding protein NikD
- ATP binding
- sphingolipid-translocating ATPase
- enzyme regulator activity
- daunorubicin resistance ABC transporter ATP-binding subunit
- nitrate transport ATP-binding subunits C and D
- heme ABC exporter, ATP-binding protein CcmA
- LPS export ABC transporter ATP-binding protein
- phosphonate C-P lyase system protein PhnK
- cobalt transport protein ATP-binding subunit
- gallidermin-class lantibiotic protection ABC transporter, ATP-binding subunit
- retinal-specific rim ABC transporter
- nickel import ATP-binding protein NikE
- ABC transporter
- P-loop containing Nucleoside Triphosphate Hydrolases
- transporter
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- hepatocellular carcinoma
- intellectual developmental disorder with poor growth and with or without seizures or ataxia
- systemic mastocytosis
- Alzheimer disease
- side effect
- cutaneous mastocytosis
- intellectual developmental disorder with poor growth and seizures without ataxia
- androgenic alopecia
- tremor
role in cell
- expression in
- abnormal morphology
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- membrane fraction
- intracellular membrane-bounded organelle
- Cytoplasm
- cellular membrane
- endosomes
- lysosome
- Golgi Apparatus
- Endoplasmic Reticulum
- granules
- microtubule organizing centers
- lysosome membrane
- endosomal membrane
- dendrite initial segments
- cytoplasmic vesicles
- peroxisomes
- cellular protrusions
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ABCA2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- cellular sphingolipid homeostasis
- sphingosine biosynthetic process
- sphingomyelin metabolic process
- response to xenobiotic stimulus
- regulation of protein glycosylation
- cholesterol homeostasis
- negative regulation of cholesterol efflux
- ganglioside metabolic process
- glycosphingolipid metabolic process
- locomotory behavior
- positive regulation of low-density lipoprotein particle receptor catabolic process
- central nervous system myelin formation
- response to cholesterol
- transmembrane transport
- negative regulation of intracellular cholesterol transport
- negative regulation of steroid metabolic process
- regulation of intracellular cholesterol transport
- response to steroid hormone stimulus
- positive regulation of amyloid precursor protein biosynthetic process
- lipid transport
- regulation of protein localization at cell surface
- regulation of cholesterol biosynthetic process
- lipid metabolic process
- regulation of steroid metabolic process
Cellular Component
Where in the cell the gene product is active
- endosome
- microtubule organizing center
- intracellular membrane-bounded organelle
- membrane
- cytoplasmic vesicle
- endosome membrane
- lysosomal membrane
- ATP-binding cassette (ABC) transporter complex
- plasma membrane
- lysosome
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- nucleotide binding
- ATP binding
- endopeptidase regulator activity
- ATPase activity, coupled to transmembrane movement of substances
- lipid transporter activity