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]
^ abcGRCh38: Ensembl release 89: ENSG00000107331 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000026944 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^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.
^ ab"Entrez Gene: ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2".
Further readingedit
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. PMC15414. 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. PMC1221321. 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. PMC187542. 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. PMC139241. 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. PMC149212. 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.
abca2, binding, cassette, family, member, protein, that, humans, encoded, gene, identifiersaliases, binding, cassette, family, abc1, member, ai413825, abc2, d2h0s1474e, mkiaa1062, binding, cassette, subfamily, member, idpogsaexternal, idsomim, 600047, 99606, h. ATP binding cassette sub family A member 2 is a protein that in humans is encoded by the ABCA2 gene 5 6 ABCA2IdentifiersAliasesABCA2 ATP binding cassette sub family A ABC1 member 2 AI413825 Abc2 D2H0S1474E mKIAA1062 ATP binding cassette subfamily A member 2 IDPOGSAExternal IDsOMIM 600047 MGI 99606 HomoloGene 55590 GeneCards ABCA2Gene location Human Chr Chromosome 9 human 1 Band9q34 3Start137 007 234 bp 1 End137 028 915 bp 1 Gene location Mouse Chr Chromosome 2 mouse 2 Band2 A3 2 17 25 cMStart25 318 715 bp 2 End25 338 552 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed intibial nervemiddle frontal gyrusamygdalainferior ganglion of vagus nerveprefrontal cortexhypothalamussural nervecorpus callosumcingulate gyrusnucleus accumbensTop expressed insuperior frontal gyruscerebellar cortexentorhinal cortexpontine nucleimedulla oblongatahippocampus propersuperior colliculuslateral geniculate nucleushypothalamusinferior colliculusMore reference expression dataBioGPSMore reference expression dataGene ontologyMolecular functionATPase coupled transmembrane transporter activity nucleotide binding transporter activity ATPase activity ATP binding lipid transporter activityCellular componentintegral component of membrane endosome membrane ATP binding cassette ABC transporter complex microtubule organizing center lysosomal membrane lysosome endosome membrane cytoplasmic vesicle intracellular membrane bounded organelleBiological processregulation 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 cholesterolSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2011305EnsemblENSG00000107331ENSMUSG00000026944UniProtQ9BZC7P41234RefSeq mRNA NM 001606NM 212533NM 007379NM 001368624RefSeq protein NP 001597NP 997698NP 031405NP 001355553Location UCSC Chr 9 137 01 137 03 MbChr 2 25 32 25 34 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseThe 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 Contents 1 See also 2 References 3 Further reading 4 External linksSee also editATP binding cassette transporterReferences edit a b c GRCh38 Ensembl release 89 ENSG00000107331 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000026944 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine 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 a b Entrez Gene ABCA2 ATP binding cassette sub family A ABC1 member 2 Further reading editSchmitz 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 Buchler C Orso 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 Pullmann 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 Mace 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 editABCA2 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 Retrieved from https en wikipedia org w index php title ABCA2 amp oldid 1199228253, wikipedia, wiki, book, books, library,
