ABCA2: Difference between revisions

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{{Infobox_gene}}
{{PBB_Controls
'''ATP-binding cassette sub-family A member 2''' is a [[protein]] that in humans is encoded by the ''ABCA2'' [[gene]].<ref name="pmid8088782">{{cite journal | vauthors = Luciani MF, Denizot F, Savary S, Mattei MG, Chimini G | title = Cloning of two novel ABC transporters mapping on human chromosome 9. | journal = Genomics | volume = 21 | issue = 1 | pages = 150–9 |date=Oct 1994 | pmid = 8088782 | pmc =  | doi = 10.1006/geno.1994.1237 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=20| accessdate = }}</ref>
| update_page = yes
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{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = ATP-binding cassette, sub-family A (ABC1), member 2
| HGNCid = 32
| Symbol = ABCA2
| AltSymbols =; ABC2; MGC129761
| OMIM = 600047
| ECnumber = 
| Homologene = 55590
| MGIid = 99606
| GeneAtlas_image1 = PBB_GE_ABCA2_210100_s_at_tn.png
| GeneAtlas_image2 = PBB_GE_ABCA2_212772_s_at_tn.png
| Function = {{GNF_GO|id=GO:0000166 |text = nucleotide binding}} {{GNF_GO|id=GO:0005524 |text = ATP binding}} {{GNF_GO|id=GO:0016887 |text = ATPase activity}} {{GNF_GO|id=GO:0042626 |text = ATPase activity, coupled to transmembrane movement of substances}}
| Component = {{GNF_GO|id=GO:0005575 |text = cellular_component}} {{GNF_GO|id=GO:0005765 |text = lysosomal membrane}} {{GNF_GO|id=GO:0005815 |text = microtubule organizing center}} {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}} {{GNF_GO|id=GO:0016023 |text = cytoplasmic membrane-bound vesicle}} {{GNF_GO|id=GO:0043190 |text = ATP-binding cassette (ABC) transporter complex}}
| Process = {{GNF_GO|id=GO:0006357 |text = regulation of transcription from RNA polymerase II promoter}} {{GNF_GO|id=GO:0006629 |text = lipid metabolic process}} {{GNF_GO|id=GO:0006810 |text = transport}} {{GNF_GO|id=GO:0008203 |text = cholesterol metabolic process}} {{GNF_GO|id=GO:0032383 |text = regulation of intracellular cholesterol transport}} {{GNF_GO|id=GO:0042493 |text = response to drug}} {{GNF_GO|id=GO:0042632 |text = cholesterol homeostasis}} {{GNF_GO|id=GO:0048545 |text = response to steroid hormone stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 20
    | Hs_Ensembl = ENSG00000107331
    | Hs_RefseqProtein = NP_001597
    | Hs_RefseqmRNA = NM_001606
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 9
    | Hs_GenLoc_start = 139021507
    | Hs_GenLoc_end = 139043195
    | Hs_Uniprot = Q9BZC7
    | Mm_EntrezGene = 11305
    | Mm_Ensembl = ENSMUSG00000026944
    | Mm_RefseqmRNA = NM_007379
    | Mm_RefseqProtein = NP_031405
    | Mm_GenLoc_db =   
    | Mm_GenLoc_chr = 2
    | Mm_GenLoc_start = 25250712
    | Mm_GenLoc_end = 25270549
    | Mm_Uniprot = Q3TMR1
  }}
}}
'''ATP-binding cassette, sub-family A (ABC1), member 2''', also known as '''ABCA2''', is a human [[gene]].<ref name="entrez">{{cite web | title = Entrez Gene: ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=20| accessdate = }}</ref>


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{{PBB_Summary
{{PBB_Summary
| section_title =  
| section_title =  
| summary_text = 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.<ref name="entrez">{{cite web | title = Entrez Gene: ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=20| accessdate = }}</ref>
| summary_text = 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.<ref name="entrez"/>
}}
}}


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==References==
==References==
{{reflist|2}}
{{reflist}}


==Further reading==
==Further reading==
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{{PBB_Further_reading  
{{PBB_Further_reading  
| citations =  
| citations =  
*{{cite journal  | author=Schmitz G, Kaminski WE |title=ABCA2: a candidate regulator of neural transmembrane lipid transport. |journal=Cell. Mol. Life Sci. |volume=59 |issue= 8 |pages= 1285-95 |year= 2002 |pmid= 12363033 |doi=  }}
*{{cite journal  | vauthors=Schmitz G, Kaminski WE |title=ABCA2: a candidate regulator of neural transmembrane lipid transport. |journal=Cell. Mol. Life Sci. |volume=59 |issue= 8 |pages= 1285–95 |year= 2002 |pmid= 12363033 |doi=10.1007/s00018-002-8508-5 }}
*{{cite journal  | author=Adams MD, Dubnick M, Kerlavage AR, ''et al.'' |title=Sequence identification of 2,375 human brain genes. |journal=Nature |volume=355 |issue= 6361 |pages= 632-4 |year= 1992 |pmid= 1538749 |doi= 10.1038/355632a0 }}
*{{cite journal  | vauthors=Adams MD, Dubnick M, Kerlavage AR |title=Sequence identification of 2,375 human brain genes. |journal=Nature |volume=355 |issue= 6361 |pages= 632–4 |year= 1992 |pmid= 1538749 |doi= 10.1038/355632a0 |display-authors=etal}}
*{{cite journal  | author=Allikmets R, Gerrard B, Glavac D, ''et al.'' |title=Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database. |journal=Mamm. Genome |volume=6 |issue= 2 |pages= 114-7 |year= 1995 |pmid= 7766993 |doi= }}
*{{cite journal  | vauthors=Allikmets R, Gerrard B, Glavac D |title=Characterization and mapping of three new mammalian ATP-binding transporter genes from an EST database. |journal=Mamm. Genome |volume=6 |issue= 2 |pages= 114–7 |year= 1995 |pmid= 7766993 |doi=10.1007/BF00303254  |display-authors=etal}}
*{{cite journal  | author=Luciani MF, Denizot F, Savary S, ''et al.'' |title=Cloning of two novel ABC transporters mapping on human chromosome 9. |journal=Genomics |volume=21 |issue= 1 |pages= 150-9 |year= 1994 |pmid= 8088782 |doi= 10.1006/geno.1994.1237 }}
*{{cite journal  | vauthors=Kikuno R, Nagase T, Ishikawa K |title=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. |journal=DNA Res. |volume=6 |issue= 3 |pages= 197–205 |year= 1999 |pmid= 10470851 |doi=10.1093/dnares/6.3.197  |display-authors=etal}}
*{{cite journal  | author=Kikuno R, Nagase T, Ishikawa K, ''et al.'' |title=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. |journal=DNA Res. |volume=6 |issue= 3 |pages= 197-205 |year= 1999 |pmid= 10470851 |doi= }}
*{{cite journal  | vauthors=Klucken J, Büchler C, Orsó E |title=ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 2 |pages= 817–22 |year= 2000 |pmid= 10639163 |doi=10.1073/pnas.97.2.817  | pmc=15414  |display-authors=etal}}
*{{cite journal  | author=Klucken J, Büchler C, Orsó E, ''et al.'' |title=ABCG1 (ABC8), the human homolog of the Drosophila white gene, is a regulator of macrophage cholesterol and phospholipid transport. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 2 |pages= 817-22 |year= 2000 |pmid= 10639163 |doi=  }}
*{{cite journal  | vauthors=Zhao LX, Zhou CJ, Tanaka A |title=Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2. |journal=Biochem. J. |volume=350 |issue= 3|pages= 865–72 |year= 2001 |pmid= 10970803 |doi=  10.1042/0264-6021:3500865| pmc=1221321  |display-authors=etal}}
*{{cite journal  | author=Zhao LX, Zhou CJ, Tanaka A, ''et al.'' |title=Cloning, characterization and tissue distribution of the rat ATP-binding cassette (ABC) transporter ABC2/ABCA2. |journal=Biochem. J. |volume=350 Pt 3 |issue= |pages= 865-72 |year= 2001 |pmid= 10970803 |doi= }}
*{{cite journal  | vauthors=Kaminski WE, Piehler A, Püllmann K |title=Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages. |journal=Biochem. Biophys. Res. Commun. |volume=281 |issue= 1 |pages= 249–58 |year= 2001 |pmid= 11178988 |doi= 10.1006/bbrc.2001.4305 |display-authors=etal}}
*{{cite journal  | author=Kaminski WE, Piehler A, Püllmann K, ''et al.'' |title=Complete coding sequence, promoter region, and genomic structure of the human ABCA2 gene and evidence for sterol-dependent regulation in macrophages. |journal=Biochem. Biophys. Res. Commun. |volume=281 |issue= 1 |pages= 249-58 |year= 2001 |pmid= 11178988 |doi= 10.1006/bbrc.2001.4305 }}
*{{cite journal  | vauthors=Vulevic B, Chen Z, Boyd JT |title=Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2 (ABCA2). |journal=Cancer Res. |volume=61 |issue= 8 |pages= 3339–47 |year= 2001 |pmid= 11309290 |doi= |display-authors=etal}}
*{{cite journal  | author=Vulevic B, Chen Z, Boyd JT, ''et al.'' |title=Cloning and characterization of human adenosine 5'-triphosphate-binding cassette, sub-family A, transporter 2 (ABCA2). |journal=Cancer Res. |volume=61 |issue= 8 |pages= 3339-47 |year= 2001 |pmid= 11309290 |doi=  }}
*{{cite journal  | vauthors=Wistow G, Bernstein SL, Wyatt MK |title=Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. |journal=Mol. Vis. |volume=8 |issue= |pages= 171–84 |year= 2002 |pmid= 12107413 |doi=  |display-authors=etal}}
*{{cite journal  | author=Wistow G, Bernstein SL, Wyatt MK, ''et al.'' |title=Expressed sequence tag analysis of adult human lens for the NEIBank Project: over 2000 non-redundant transcripts, novel genes and splice variants. |journal=Mol. Vis. |volume=8 |issue= |pages= 171-84 |year= 2002 |pmid= 12107413 |doi=  }}
*{{cite journal  | vauthors=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773–84 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 | pmc=187542 }}
*{{cite journal  | author=Nakayama M, Kikuno R, Ohara O |title=Protein-protein interactions between large proteins: two-hybrid screening using a functionally classified library composed of long cDNAs. |journal=Genome Res. |volume=12 |issue= 11 |pages= 1773-84 |year= 2003 |pmid= 12421765 |doi= 10.1101/gr.406902 }}
*{{cite journal  | vauthors=Strausberg RL, Feingold EA, Grouse LH |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899  | pmc=139241 |display-authors=etal}}
*{{cite journal  | author=Strausberg RL, Feingold EA, Grouse LH, ''et al.'' |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899-903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899 }}
*{{cite journal  | vauthors=Davis W, Chen ZJ, Ile KE, Tew KD |title=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. |journal=Nucleic Acids Res. |volume=31 |issue= 3 |pages= 1097–107 |year= 2003 |pmid= 12560508 |doi=10.1093/nar/gkg192  | pmc=149212  }}
*{{cite journal  | author=Davis W, Chen ZJ, Ile KE, Tew KD |title=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. |journal=Nucleic Acids Res. |volume=31 |issue= 3 |pages= 1097-107 |year= 2003 |pmid= 12560508 |doi= }}
*{{cite journal  | vauthors=Ile KE, Davis W, Boyd JT |title=Identification of a novel first exon of the human ABCA2 transporter gene encoding a unique N-terminus. |journal=Biochim. Biophys. Acta |volume=1678 |issue= 1 |pages= 22–32 |year= 2005 |pmid= 15093135 |doi= 10.1016/j.bbaexp.2004.01.007 |display-authors=etal}}
*{{cite journal  | author=Ile KE, Davis W, Boyd JT, ''et al.'' |title=Identification of a novel first exon of the human ABCA2 transporter gene encoding a unique N-terminus. |journal=Biochim. Biophys. Acta |volume=1678 |issue= 1 |pages= 22-32 |year= 2005 |pmid= 15093135 |doi= 10.1016/j.bbaexp.2004.01.007 }}
*{{cite journal  | vauthors=Chen ZJ, Vulevic B, Ile KE |title=Association of ABCA2 expression with determinants of Alzheimer's disease. |journal=FASEB J. |volume=18 |issue= 10 |pages= 1129–31 |year= 2005 |pmid= 15155565 |doi= 10.1096/fj.03-1490fje |display-authors=etal}}
*{{cite journal  | author=Chen ZJ, Vulevic B, Ile KE, ''et al.'' |title=Association of ABCA2 expression with determinants of Alzheimer's disease. |journal=FASEB J. |volume=18 |issue= 10 |pages= 1129-31 |year= 2005 |pmid= 15155565 |doi= 10.1096/fj.03-1490fje }}
*{{cite journal  | vauthors=Davis W, Boyd JT, Ile KE, Tew KD |title=Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells. |journal=Biochim. Biophys. Acta |volume=1683 |issue= 1-3 |pages= 89–100 |year= 2004 |pmid= 15238223 |doi= 10.1016/j.bbalip.2004.04.009 }}
*{{cite journal  | author=Davis W, Boyd JT, Ile KE, Tew KD |title=Human ATP-binding cassette transporter-2 (ABCA2) positively regulates low-density lipoprotein receptor expression and negatively regulates cholesterol esterification in Chinese hamster ovary cells. |journal=Biochim. Biophys. Acta |volume=1683 |issue= 1-3 |pages= 89-100 |year= 2004 |pmid= 15238223 |doi= 10.1016/j.bbalip.2004.04.009 }}
*{{cite journal  | vauthors=Homma K, Kikuno RF, Nagase T |title=Alternative splice variants encoding unstable protein domains exist in the human brain. |journal=J. Mol. Biol. |volume=343 |issue= 5 |pages= 1207–20 |year= 2004 |pmid= 15491607 |doi= 10.1016/j.jmb.2004.09.028 |display-authors=etal}}
*{{cite journal  | author=Homma K, Kikuno RF, Nagase T, ''et al.'' |title=Alternative splice variants encoding unstable protein domains exist in the human brain. |journal=J. Mol. Biol. |volume=343 |issue= 5 |pages= 1207-20 |year= 2004 |pmid= 15491607 |doi= 10.1016/j.jmb.2004.09.028 }}
*{{cite journal  | vauthors=Macé S, Cousin E, Ricard S |title=ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. |journal=Neurobiol. Dis. |volume=18 |issue= 1 |pages= 119–25 |year= 2005 |pmid= 15649702 |doi= 10.1016/j.nbd.2004.09.011 |display-authors=etal}}
*{{cite journal  | author=Macé S, Cousin E, Ricard S, ''et al.'' |title=ABCA2 is a strong genetic risk factor for early-onset Alzheimer's disease. |journal=Neurobiol. Dis. |volume=18 |issue= 1 |pages= 119-25 |year= 2005 |pmid= 15649702 |doi= 10.1016/j.nbd.2004.09.011 }}
*{{cite journal  | vauthors=Wang Y, Yamada K, Tanaka Y |title=Expression of ABCA2 protein in human vestibular schwannoma and peripheral nerve. |journal=J. Neurol. Sci. |volume=232 |issue= 1-2 |pages= 59–63 |year= 2005 |pmid= 15850583 |doi= 10.1016/j.jns.2005.01.016 |display-authors=etal}}
*{{cite journal  | author=Wang Y, Yamada K, Tanaka Y, ''et al.'' |title=Expression of ABCA2 protein in human vestibular schwannoma and peripheral nerve. |journal=J. Neurol. Sci. |volume=232 |issue= 1-2 |pages= 59-63 |year= 2005 |pmid= 15850583 |doi= 10.1016/j.jns.2005.01.016 }}
}}
}}
{{refend}}
{{refend}}
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== External links ==
== External links ==
* {{MeshName|ABCA2+protein,+human}}
* {{MeshName|ABCA2+protein,+human}}
* {{UCSC genome browser|ABCA2}}
* {{UCSC gene details|ABCA2}}


{{membrane-protein-stub}}
{{NLM content}}
{{NLM content}}
{{Membrane transport proteins}}
{{ABC transporters}}
 
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{{DEFAULTSORT:Abca2}}
[[Category:ABC transporters]]
[[Category:ABC transporters]]
{{WikiDoc Sources}}

Latest revision as of 17:38, 29 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
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Wikidata
View/Edit Human

ATP-binding cassette sub-family A member 2 is a protein that in humans is encoded by the ABCA2 gene.[1][2]

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.[2]

See also

References

  1. ↑ 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.
  2. ↑ 2.0 2.1 "Entrez Gene: ABCA2 ATP-binding cassette, sub-family A (ABC1), member 2".

Further reading

External links

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

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