ABCA2

ABCA2
Identifiers
Aliases	ABCA2 , ATP-binding cassette, sub-family A (ABC1), member 2, AI413825, Abc2, D2H0S1474E, mKIAA1062, ATP binding cassette subfamily A member 2, IDPOGSA
External IDs	OMIM: 600047 MGI: 99606 HomoloGene: 55590 GeneCards: ABCA2
Gene location (Human) Chr. Chromosome 9 (human) [1] Band 9q34.3 Start 137,007,234 bp [1] End 137,028,915 bp [1]
Gene location (Mouse) Chr. Chromosome 2 (mouse) [2] Band 2 A3|2 17.25 cM Start 25,318,715 bp [2] End 25,338,552 bp [2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in tibial nerve middle frontal gyrus amygdala inferior ganglion of vagus nerve prefrontal cortex hypothalamus sural nerve corpus callosum cingulate gyrus nucleus accumbens Top expressed in superior frontal gyrus cerebellar cortex entorhinal cortex pontine nuclei medulla oblongata hippocampus proper superior colliculus lateral geniculate nucleus hypothalamus inferior colliculus More reference expression data BioGPS More reference expression data
Gene ontology Molecular function ATPase-coupled transmembrane transporter activity nucleotide binding transporter activity ATPase activity ATP binding lipid transporter activity Cellular component integral component of membrane endosome membrane ATP-binding cassette (ABC) transporter complex microtubule organizing center lysosomal membrane lysosome endosome membrane cytoplasmic vesicle intracellular membrane-bounded organelle Biological process regulation of intracellular cholesterol transport lipid metabolism regulation of transcription by RNA polymerase II response to steroid hormone cholesterol homeostasis transmembrane transport transport lipid transport response to cholesterol Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 20 11305 Ensembl ENSG00000107331 ENSMUSG00000026944 UniProt Q9BZC7 P41234 RefSeq (mRNA) NM_001606 NM_212533 NM_007379 NM_001368624 RefSeq (protein) NP_001597 NP_997698 NP_031405 NP_001355553 Location (UCSC) Chr 9: 137.01 – 137.03 Mb Chr 2: 25.32 – 25.34 Mb PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ABCA2 gene. ^{[5] [6]}

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. ^[6]

See also

• ATP-binding cassette transporter

References

1. GRCh38: Ensembl release 89: ENSG00000107331 - Ensembl, May 2017
2. GRCm38: Ensembl release 89: ENSMUSG00000026944 - Ensembl, May 2017
3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
5. Luciani MF, Denizot F, Savary S, Mattei MG, Chimini G (Oct 1994). "Cloning of two novel ABC transporters mapping on human chromosome 9". Genomics. 21 (1): 150–9. doi:10.1006/geno.1994.1237. PMID   8088782.
6. "Entrez Gene: ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2".

Further reading

• Schmitz G, Kaminski WE (2002). "ABCA2: a candidate regulator of neural transmembrane lipid transport". Cell. Mol. Life Sci. 59 (8): 1285–95. doi:10.1007/s00018-002-8508-5. PMID   12363033. S2CID   2419514.
• Adams MD, Dubnick M, Kerlavage AR, et al. (1992). "Sequence identification of 2,375 human brain genes". Nature. 355 (6361): 632–4. Bibcode:1992Natur.355..632A. doi:10.1038/355632a0. PMID   1538749. S2CID   4234345.
• Allikmets R, Gerrard B, Glavac D, et al. (1995). "Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database". Mamm. Genome. 6 (2): 114–7. doi:10.1007/BF00303254. PMID   7766993. S2CID   10157132.
• Kikuno R, Nagase T, Ishikawa K, et al. (1999). "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro". DNA Res. 6 (3): 197–205. doi: 10.1093/dnares/6.3.197 . PMID   10470851.
• Klucken J, Büchler C, Orsó E, et al. (2000). "ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport". Proc. Natl. Acad. Sci. U.S.A. 97 (2): 817–22. Bibcode:2000PNAS...97..817K. doi: 10.1073/pnas.97.2.817 . PMC   15414 . PMID   10639163.
• Zhao LX, Zhou CJ, Tanaka A, et al. (2001). "Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2". Biochem. J. 350 (3): 865–72. doi:10.1042/0264-6021:3500865. PMC   1221321 . PMID   10970803.
• Kaminski WE, Piehler A, Püllmann K, et al. (2001). "Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages". Biochem. Biophys. Res. Commun. 281 (1): 249–58. doi:10.1006/bbrc.2001.4305. PMID   11178988.
• Vulevic B, Chen Z, Boyd JT, et al. (2001). "Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2 (ABCA2)". Cancer Res. 61 (8): 3339–47. PMID   11309290.
• Wistow G, Bernstein SL, Wyatt MK, et al. (2002). "Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants". Mol. Vis. 8: 171–84. PMID   12107413.
• Nakayama M, Kikuno R, Ohara O (2003). "Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs". Genome Res. 12 (11): 1773–84. doi:10.1101/gr.406902. PMC   187542 . PMID   12421765.
• Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. Bibcode:2002PNAS...9916899M. doi: 10.1073/pnas.242603899 . PMC   139241 . PMID   12477932.
• Davis W, Chen ZJ, Ile KE, Tew KD (2003). "Reciprocal regulation of expression of the human adenosine 5'-triphosphate binding cassette, sub-family A, transporter 2 (ABCA2) promoter by the early growth response-1 (EGR-1) and Sp-family transcription factors". Nucleic Acids Res. 31 (3): 1097–107. doi:10.1093/nar/gkg192. PMC   149212 . PMID   12560508.
• Ile KE, Davis W, Boyd JT, et al. (2005). "Identification of a novel first exon of the human ABCA2 transporter gene encoding a unique N-terminus". Biochim. Biophys. Acta. 1678 (1): 22–32. doi:10.1016/j.bbaexp.2004.01.007. PMID   15093135.
• Chen ZJ, Vulevic B, Ile KE, et al. (2005). "Association of ABCA2 expression with determinants of Alzheimer's disease". FASEB J. 18 (10): 1129–31. doi: 10.1096/fj.03-1490fje . PMID   15155565. S2CID   12495522.
• Davis W, Boyd JT, Ile KE, Tew KD (2004). "Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells". Biochim. Biophys. Acta. 1683 (1–3): 89–100. doi:10.1016/j.bbalip.2004.04.009. PMID   15238223.
• Homma K, Kikuno RF, Nagase T, et al. (2004). "Alternative splice variants encoding unstable protein domains exist in the human brain". J. Mol. Biol. 343 (5): 1207–20. doi:10.1016/j.jmb.2004.09.028. PMID   15491607.
• Macé S, Cousin E, Ricard S, et al. (2005). "ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease". Neurobiol. Dis. 18 (1): 119–25. doi:10.1016/j.nbd.2004.09.011. PMID   15649702. S2CID   10497567.
• Wang Y, Yamada K, Tanaka Y, et al. (2005). "Expression of ABCA2 protein in human vestibular schwannoma and peripheral nerve". J. Neurol. Sci. 232 (1–2): 59–63. doi:10.1016/j.jns.2005.01.016. PMID   15850583. S2CID   36309768.

External links

• ABCA2+protein,+human at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
• ABCA2 human gene location in the UCSC Genome Browser .
• ABCA2 human gene details in the UCSC Genome Browser .

This article incorporates text from the United States National Library of Medicine, which is in the public domain.