Human Gene ABCA2 (ENST00000341511.11) from GENCODE V44
Description: Homo sapiens ATP binding cassette subfamily A member 2 (ABCA2), transcript variant 1, mRNA. (from RefSeq NM_001606) RefSeq Summary (NM_001606): 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]. Gencode Transcript: ENST00000341511.11 Gencode Gene: ENSG00000107331.18 Transcript (Including UTRs) Position: hg38 chr9:137,007,234-137,028,237 Size: 21,004 Total Exon Count: 49 Strand: - Coding Region Position: hg38 chr9:137,007,929-137,028,140 Size: 20,212 Coding Exon Count: 49
ID:ABCA2_HUMAN DESCRIPTION: RecName: Full=ATP-binding cassette sub-family A member 2; AltName: Full=ATP-binding cassette transporter 2; Short=ATP-binding cassette 2; FUNCTION: Probable transporter, its natural substrate has not been found yet. May have a role in macrophage lipid metabolism and neural development. SUBCELLULAR LOCATION: Endosome membrane; Multi-pass membrane protein. Lysosome membrane; Multi-pass membrane protein. Note=Forms discrete, punctate intracellular vesicles. TISSUE SPECIFICITY: Highly expressed in the brain, whereas lower levels of expression is observed in kidney and liver. SIMILARITY: Belongs to the ABC transporter superfamily. ABCA family. SIMILARITY: Contains 2 ABC transporter domains. WEB RESOURCE: Name=ABCMdb; Note=Database for mutations in ABC proteins; URL="http://abcmutations.hegelab.org/proteinDetails?uniprot_id=Q9BZC7";
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on Q9BZC7
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: 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:0006357 regulation of transcription from RNA polymerase II promoter GO:0006629 lipid metabolic process 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 GO:0070723 response to cholesterol
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