BACH2: Difference between revisions

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{{Infobox_gene}}
{{Infobox_gene}}
'''Transcription regulator protein BACH2''' is a [[protein]] that in humans is encoded by the ''BACH2'' [[gene]].<ref name="pmid10949928">{{cite journal | vauthors = Sasaki S, Ito E, Toki T, Maekawa T, Kanezaki R, Umenai T, Muto A, Nagai H, Kinoshita T, Yamamoto M, Inazawa J, Taketo MM, Nakahata T, Igarashi K, Yokoyama M | title = Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15 | journal = Oncogene | volume = 19 | issue = 33 | pages = 3739–49 | date = Aug 2000 | pmid = 10949928 | pmc =  | doi = 10.1038/sj.onc.1203716 }}</ref><ref name="pmid12829606">{{cite journal | vauthors = Kamio T, Toki T, Kanezaki R, Sasaki S, Tandai S, Terui K, Ikebe D, Igarashi K, Ito E | title = B-cell-specific transcription factor BACH2 modifies the cytotoxic effects of anticancer drugs | journal = Blood | volume = 102 | issue = 9 | pages = 3317–22 | date = Nov 2003 | pmid = 12829606 | pmc =  | doi = 10.1182/blood-2002-12-3656 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=60468| accessdate = }}</ref> It contains a [[BTB/POZ domain]] at its N-terminus which forms a disulphide-linked dimer <ref>{{cite journal | vauthors = Rosbrook GO, Stead MA, Carr SB, Wright SC | title = The structure of the Bach2 POZ-domain dimer reveals an intersubunit disulfide bond | journal = Acta Crystallographica Section D | volume = 68 | issue = Pt 1 | pages = 26–34 | date = Jan 2012 | pmid = 22194330 | pmc =  | doi = 10.1107/S0907444911048335 }}</ref> and a [[BZIP Maf|bZip_Maf]] domain at the C-terminus.
'''Transcription regulator protein BACH2''' (broad complex-tramtrack-bric a brac and Cap'n'collar homology 2) is a [[protein]] that in humans is encoded by the ''BACH2'' [[gene]].<ref name="pmid10949928">{{cite journal | vauthors = Sasaki S, Ito E, Toki T, Maekawa T, Kanezaki R, Umenai T, Muto A, Nagai H, Kinoshita T, Yamamoto M, Inazawa J, Taketo MM, Nakahata T, Igarashi K, Yokoyama M | title = Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15 | journal = Oncogene | volume = 19 | issue = 33 | pages = 3739–49 | date = August 2000 | pmid = 10949928 | pmc =  | doi = 10.1038/sj.onc.1203716 }}</ref><ref name="pmid12829606">{{cite journal | vauthors = Kamio T, Toki T, Kanezaki R, Sasaki S, Tandai S, Terui K, Ikebe D, Igarashi K, Ito E | title = B-cell-specific transcription factor BACH2 modifies the cytotoxic effects of anticancer drugs | journal = Blood | volume = 102 | issue = 9 | pages = 3317–22 | date = November 2003 | pmid = 12829606 | pmc =  | doi = 10.1182/blood-2002-12-3656 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=60468| access-date = }}</ref> It contains a [[BTB/POZ domain]] at its N-terminus which forms a disulphide-linked dimer <ref>{{cite journal | vauthors = Rosbrook GO, Stead MA, Carr SB, Wright SC | title = The structure of the Bach2 POZ-domain dimer reveals an intersubunit disulfide bond | journal = Acta Crystallographica. Section D, Biological Crystallography | volume = 68 | issue = Pt 1 | pages = 26–34 | date = January 2012 | pmid = 22194330 | pmc =  | doi = 10.1107/S0907444911048335 }}</ref> and a [[BZIP Maf|bZip_Maf]] domain at the C-terminus.


==Model organisms==
== Disease associations ==
[[Model organism]]s have been used in the study of BACH2 function. A conditional [[knockout mouse]] line called ''Bach2<sup>tm1a(EUCOMM)Wtsi</sup>'' was generated at the [[Wellcome Trust Sanger Institute]].<ref name="mgp_reference">{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |journal=Acta Ophthalmologica|volume=88 |pages=925–7|doi=10.1111/j.1755-3768.2010.4142.x }}</ref> Male and female animals underwent a standardized [[phenotypic screen]]<ref name="IMPCsearch_ref">{{cite web |url=http://www.mousephenotype.org/data/search?q=Bach2#fq=*:*&facet=gene |title=International Mouse Phenotyping Consortium}}</ref> to determine the effects of deletion.<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = Jun 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = Jun 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = Jan 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref><ref name="pmid23870131">{{cite journal | vauthors = White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | date = Jul 2013 | pmid = 23870131 | pmc = 3717207 | doi = 10.1016/j.cell.2013.06.022 }}</ref> Additional screens performed:  - In-depth immunological phenotyping<ref name="iii_ref">{{cite web |url= http://www.immunophenotyping.org/data/search?keys=Bach2&field_gene_construct_tid=All |title=Infection and Immunity Immunophenotyping (3i) Consortium}}</ref> - in-depth bone and cartilage phenotyping<ref name="obcd_ref">{{cite web |url=http://www.boneandcartilage.com/ |title=OBCD Consortium}}</ref>  
Single nucleotide variants in BACH2 have been linked to a number of autoimmune diseases in humans.<ref>{{cite journal | vauthors = Shen C, Gao J, Sheng Y, Dou J, Zhou F, Zheng X, Ko R, Tang X, Zhu C, Yin X, Sun L, Cui Y, Zhang X | title = Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci | language = English | journal = Frontiers in Genetics | volume = 7 | pages = 3 | date = 2016 | pmid = 26870082 | pmc = 4740779 | doi = 10.3389/fgene.2016.00003 }}</ref> Mendelian BACH2-related immunodeficiency and autoimmunity (BRIDA) syndrome in humans is caused by haploinsufficiency of this transcription factor resulting from germline mutations.<ref>{{cite journal | vauthors = Afzali B, Grönholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, Davis FP, Khoder A, Zhang Y, Hegazy AN, Villarino AV, Palmer IW, Kaufman J, Watts NR, Kazemian M, Kamenyeva O, Keith J, Sayed A, Kasperaviciute D, Mueller M, Hughes JD, Fuss IJ, Sadiyah MF, Montgomery-Recht K, McElwee J, Restifo NP, Strober W, Linterman MA, Wingfield PT, Uhlig HH, Roychoudhuri R, Aitman TJ, Kelleher P, Lenardo MJ, O'Shea JJ, Cooper N, Laurence AD | display-authors = 6 | title = BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency | journal = Nature Immunology | volume = 18 | issue = 7 | pages = 813–823 | date = July 2017 | pmid = 28530713 | pmc = 5593426 | doi = 10.1038/ni.3753 }}</ref>
 
== Model organisms ==
 
[[Model organism]]s have been used in the study of BACH2 function. A conditional [[knockout mouse]] line called ''Bach2<sup>tm1a(EUCOMM)Wtsi</sup>'' was generated at the [[Wellcome Trust Sanger Institute]].<ref name="mgp_reference">{{cite journal |title=The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice |author=Gerdin AK |year=2010 |journal=Acta Ophthalmologica|volume=88 |pages=925–7|doi=10.1111/j.1755-3768.2010.4142.x }}</ref> Male and female animals underwent a standardized [[phenotypic screen]]<ref name="IMPCsearch_ref">{{cite web |url=http://www.mousephenotype.org/data/search?q=Bach2#fq=*:*&facet=gene |title=International Mouse Phenotyping Consortium}}</ref> to determine the effects of deletion.<ref name="pmid21677750">{{cite journal | vauthors = Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A | title = A conditional knockout resource for the genome-wide study of mouse gene function | journal = Nature | volume = 474 | issue = 7351 | pages = 337–42 | date = June 2011 | pmid = 21677750 | pmc = 3572410 | doi = 10.1038/nature10163 }}</ref><ref name="mouse_library">{{cite journal | vauthors = Dolgin E | title = Mouse library set to be knockout | journal = Nature | volume = 474 | issue = 7351 | pages = 262–3 | date = June 2011 | pmid = 21677718 | doi = 10.1038/474262a }}</ref><ref name="mouse_for_all_reasons">{{cite journal | vauthors = Collins FS, Rossant J, Wurst W | title = A mouse for all reasons | journal = Cell | volume = 128 | issue = 1 | pages = 9–13 | date = January 2007 | pmid = 17218247 | doi = 10.1016/j.cell.2006.12.018 }}</ref><ref name="pmid23870131">{{cite journal | vauthors = White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP | title = Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes | journal = Cell | volume = 154 | issue = 2 | pages = 452–64 | date = July 2013 | pmid = 23870131 | pmc = 3717207 | doi = 10.1016/j.cell.2013.06.022 }}</ref> Additional screens performed:  - In-depth immunological phenotyping<ref name="iii_ref">{{cite web |url= http://www.immunophenotyping.org/data/search?keys=Bach2&field_gene_construct_tid=All |title=Infection and Immunity Immunophenotyping (3i) Consortium}}</ref> - in-depth bone and cartilage phenotyping<ref name="obcd_ref">{{cite web |url=http://www.boneandcartilage.com/ |title=OBCD Consortium}}</ref>  
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== References ==
== References ==
{{reflist|33em}}
{{reflist|32em}}{{clear}}


== Further reading ==
== Further reading ==
{{refbegin |33em}}
{{refbegin |32em}}
* {{cite journal | vauthors = Oyake T, Itoh K, Motohashi H, Hayashi N, Hoshino H, Nishizawa M, Yamamoto M, Igarashi K | title = Bach proteins belong to a novel family of BTB-basic leucine zipper transcription factors that interact with MafK and regulate transcription through the NF-E2 site | journal = Molecular and Cellular Biology | volume = 16 | issue = 11 | pages = 6083–95 | date = Nov 1996 | pmid = 8887638 | pmc = 231611 | doi = 10.1128/mcb.16.11.6083 }}
* {{cite journal | vauthors = Oyake T, Itoh K, Motohashi H, Hayashi N, Hoshino H, Nishizawa M, Yamamoto M, Igarashi K | title = Bach proteins belong to a novel family of BTB-basic leucine zipper transcription factors that interact with MafK and regulate transcription through the NF-E2 site | journal = Molecular and Cellular Biology | volume = 16 | issue = 11 | pages = 6083–95 | date = November 1996 | pmid = 8887638 | pmc = 231611 | doi = 10.1128/mcb.16.11.6083 }}
* {{cite journal | vauthors = Kobayashi A, Yamagiwa H, Hoshino H, Muto A, Sato K, Morita M, Hayashi N, Yamamoto M, Igarashi K | title = A combinatorial code for gene expression generated by transcription factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ domain | journal = Molecular and Cellular Biology | volume = 20 | issue = 5 | pages = 1733–46 | date = Mar 2000 | pmid = 10669750 | pmc = 85356 | doi = 10.1128/MCB.20.5.1733-1746.2000 }}
* {{cite journal | vauthors = Kobayashi A, Yamagiwa H, Hoshino H, Muto A, Sato K, Morita M, Hayashi N, Yamamoto M, Igarashi K | title = A combinatorial code for gene expression generated by transcription factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ domain | journal = Molecular and Cellular Biology | volume = 20 | issue = 5 | pages = 1733–46 | date = March 2000 | pmid = 10669750 | pmc = 85356 | doi = 10.1128/MCB.20.5.1733-1746.2000 }}
* {{cite journal | vauthors = Hoshino H, Kobayashi A, Yoshida M, Kudo N, Oyake T, Motohashi H, Hayashi N, Yamamoto M, Igarashi K | title = Oxidative stress abolishes leptomycin B-sensitive nuclear export of transcription repressor Bach2 that counteracts activation of Maf recognition element | journal = The Journal of Biological Chemistry | volume = 275 | issue = 20 | pages = 15370–6 | date = May 2000 | pmid = 10809773 | doi = 10.1074/jbc.275.20.15370 }}
* {{cite journal | vauthors = Hoshino H, Kobayashi A, Yoshida M, Kudo N, Oyake T, Motohashi H, Hayashi N, Yamamoto M, Igarashi K | title = Oxidative stress abolishes leptomycin B-sensitive nuclear export of transcription repressor Bach2 that counteracts activation of Maf recognition element | journal = The Journal of Biological Chemistry | volume = 275 | issue = 20 | pages = 15370–6 | date = May 2000 | pmid = 10809773 | doi = 10.1074/jbc.275.20.15370 }}
* {{cite journal | vauthors = Vieira SA, Deininger MW, Sorour A, Sinclair P, Foroni L, Goldman JM, Melo JV | title = Transcription factor BACH2 is transcriptionally regulated by the BCR/ABL oncogene | journal = Genes, Chromosomes & Cancer | volume = 32 | issue = 4 | pages = 353–63 | date = Dec 2001 | pmid = 11746976 | doi = 10.1002/gcc.1200 }}
* {{cite journal | vauthors = Vieira SA, Deininger MW, Sorour A, Sinclair P, Foroni L, Goldman JM, Melo JV | title = Transcription factor BACH2 is transcriptionally regulated by the BCR/ABL oncogene | journal = Genes, Chromosomes & Cancer | volume = 32 | issue = 4 | pages = 353–63 | date = December 2001 | pmid = 11746976 | doi = 10.1002/gcc.1200 }}
* {{cite journal | vauthors = Muto A, Tashiro S, Tsuchiya H, Kume A, Kanno M, Ito E, Yamamoto M, Igarashi K | title = Activation of Maf/AP-1 repressor Bach2 by oxidative stress promotes apoptosis and its interaction with promyelocytic leukemia nuclear bodies | journal = The Journal of Biological Chemistry | volume = 277 | issue = 23 | pages = 20724–33 | date = Jun 2002 | pmid = 11923289 | doi = 10.1074/jbc.M112003200 }}
* {{cite journal | vauthors = Muto A, Tashiro S, Tsuchiya H, Kume A, Kanno M, Ito E, Yamamoto M, Igarashi K | title = Activation of Maf/AP-1 repressor Bach2 by oxidative stress promotes apoptosis and its interaction with promyelocytic leukemia nuclear bodies | journal = The Journal of Biological Chemistry | volume = 277 | issue = 23 | pages = 20724–33 | date = June 2002 | pmid = 11923289 | doi = 10.1074/jbc.M112003200 }}
* {{cite journal | vauthors = Takakuwa T, Luo WJ, Ham MF, Sakane-Ishikawa F, Wada N, Aozasa K | title = Integration of Epstein-Barr virus into chromosome 6q15 of Burkitt lymphoma cell line (Raji) induces loss of BACH2 expression | journal = The American Journal of Pathology | volume = 164 | issue = 3 | pages = 967–74 | date = Mar 2004 | pmid = 14982850 | pmc = 1614712 | doi = 10.1016/S0002-9440(10)63184-7 }}
* {{cite journal | vauthors = Takakuwa T, Luo WJ, Ham MF, Sakane-Ishikawa F, Wada N, Aozasa K | title = Integration of Epstein-Barr virus into chromosome 6q15 of Burkitt lymphoma cell line (Raji) induces loss of BACH2 expression | journal = The American Journal of Pathology | volume = 164 | issue = 3 | pages = 967–74 | date = March 2004 | pmid = 14982850 | pmc = 1614712 | doi = 10.1016/S0002-9440(10)63184-7 }}
* {{cite journal | vauthors = Tashiro S, Muto A, Tanimoto K, Tsuchiya H, Suzuki H, Hoshino H, Yoshida M, Walter J, Igarashi K | title = Repression of PML nuclear body-associated transcription by oxidative stress-activated Bach2 | journal = Molecular and Cellular Biology | volume = 24 | issue = 8 | pages = 3473–84 | date = Apr 2004 | pmid = 15060166 | pmc = 381671 | doi = 10.1128/MCB.24.8.3473-3484.2004 }}
* {{cite journal | vauthors = Tashiro S, Muto A, Tanimoto K, Tsuchiya H, Suzuki H, Hoshino H, Yoshida M, Walter J, Igarashi K | title = Repression of PML nuclear body-associated transcription by oxidative stress-activated Bach2 | journal = Molecular and Cellular Biology | volume = 24 | issue = 8 | pages = 3473–84 | date = April 2004 | pmid = 15060166 | pmc = 381671 | doi = 10.1128/MCB.24.8.3473-3484.2004 }}
* {{cite journal | vauthors = Motamed-Khorasani A, Jurisica I, Letarte M, Shaw PA, Parkes RK, Zhang X, Evangelou A, Rosen B, Murphy KJ, Brown TJ | title = Differentially androgen-modulated genes in ovarian epithelial cells from BRCA mutation carriers and control patients predict ovarian cancer survival and disease progression | journal = Oncogene | volume = 26 | issue = 2 | pages = 198–214 | date = Jan 2007 | pmid = 16832351 | doi = 10.1038/sj.onc.1209773 }}
* {{cite journal | vauthors = Motamed-Khorasani A, Jurisica I, Letarte M, Shaw PA, Parkes RK, Zhang X, Evangelou A, Rosen B, Murphy KJ, Brown TJ | title = Differentially androgen-modulated genes in ovarian epithelial cells from BRCA mutation carriers and control patients predict ovarian cancer survival and disease progression | journal = Oncogene | volume = 26 | issue = 2 | pages = 198–214 | date = January 2007 | pmid = 16832351 | doi = 10.1038/sj.onc.1209773 }}
* {{cite journal | vauthors = Yoshida C, Yoshida F, Sears DE, Hart SM, Ikebe D, Muto A, Basu S, Igarashi K, Melo JV | title = Bcr-Abl signaling through the PI-3/S6 kinase pathway inhibits nuclear translocation of the transcription factor Bach2, which represses the antiapoptotic factor heme oxygenase-1 | journal = Blood | volume = 109 | issue = 3 | pages = 1211–9 | date = Feb 2007 | pmid = 17018862 | doi = 10.1182/blood-2005-12-040972 }}
* {{cite journal | vauthors = Yoshida C, Yoshida F, Sears DE, Hart SM, Ikebe D, Muto A, Basu S, Igarashi K, Melo JV | title = Bcr-Abl signaling through the PI-3/S6 kinase pathway inhibits nuclear translocation of the transcription factor Bach2, which represses the antiapoptotic factor heme oxygenase-1 | journal = Blood | volume = 109 | issue = 3 | pages = 1211–9 | date = February 2007 | pmid = 17018862 | doi = 10.1182/blood-2005-12-040972 }}
* {{cite journal | vauthors = Ono A, Kono K, Ikebe D, Muto A, Sun J, Kobayashi M, Ueda K, Melo JV, Igarashi K, Tashiro S | title = Nuclear positioning of the BACH2 gene in BCR-ABL positive leukemic cells | journal = Genes, Chromosomes & Cancer | volume = 46 | issue = 1 | pages = 67–74 | date = Jan 2007 | pmid = 17044046 | doi = 10.1002/gcc.20390 }}
* {{cite journal | vauthors = Ono A, Kono K, Ikebe D, Muto A, Sun J, Kobayashi M, Ueda K, Melo JV, Igarashi K, Tashiro S | title = Nuclear positioning of the BACH2 gene in BCR-ABL positive leukemic cells | journal = Genes, Chromosomes & Cancer | volume = 46 | issue = 1 | pages = 67–74 | date = January 2007 | pmid = 17044046 | doi = 10.1002/gcc.20390 }}
* {{cite journal | vauthors = Ikeda T, Shibata J, Yoshimura K, Koito A, Matsushita S | title = Recurrent HIV-1 integration at the BACH2 locus in resting CD4+ T cell populations during effective highly active antiretroviral therapy | journal = The Journal of Infectious Diseases | volume = 195 | issue = 5 | pages = 716–25 | date = Mar 2007 | pmid = 17262715 | doi = 10.1086/510915 }}
* {{cite journal | vauthors = Ikeda T, Shibata J, Yoshimura K, Koito A, Matsushita S | title = Recurrent HIV-1 integration at the BACH2 locus in resting CD4+ T cell populations during effective highly active antiretroviral therapy | journal = The Journal of Infectious Diseases | volume = 195 | issue = 5 | pages = 716–25 | date = March 2007 | pmid = 17262715 | doi = 10.1086/510915 }}
* {{cite journal | vauthors = Hoshino H, Nishino TG, Tashiro S, Miyazaki M, Ohmiya Y, Igarashi K, Horinouchi S, Yoshida M | title = Co-repressor SMRT and class II histone deacetylases promote Bach2 nuclear retention and formation of nuclear foci that are responsible for local transcriptional repression | journal = Journal of Biochemistry | volume = 141 | issue = 5 | pages = 719–27 | date = May 2007 | pmid = 17383980 | doi = 10.1093/jb/mvm073 }}
* {{cite journal | vauthors = Hoshino H, Nishino TG, Tashiro S, Miyazaki M, Ohmiya Y, Igarashi K, Horinouchi S, Yoshida M | title = Co-repressor SMRT and class II histone deacetylases promote Bach2 nuclear retention and formation of nuclear foci that are responsible for local transcriptional repression | journal = Journal of Biochemistry | volume = 141 | issue = 5 | pages = 719–27 | date = May 2007 | pmid = 17383980 | doi = 10.1093/jb/mvm073 }}
{{refend}}
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Latest revision as of 20:55, 26 December 2018

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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
PubMed searchn/an/a
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View/Edit Human

Transcription regulator protein BACH2 (broad complex-tramtrack-bric a brac and Cap'n'collar homology 2) is a protein that in humans is encoded by the BACH2 gene.[1][2][3] It contains a BTB/POZ domain at its N-terminus which forms a disulphide-linked dimer [4] and a bZip_Maf domain at the C-terminus.

Disease associations

Single nucleotide variants in BACH2 have been linked to a number of autoimmune diseases in humans.[5] Mendelian BACH2-related immunodeficiency and autoimmunity (BRIDA) syndrome in humans is caused by haploinsufficiency of this transcription factor resulting from germline mutations.[6]

Model organisms

Model organisms have been used in the study of BACH2 function. A conditional knockout mouse line called Bach2tm1a(EUCOMM)Wtsi was generated at the Wellcome Trust Sanger Institute.[7] Male and female animals underwent a standardized phenotypic screen[8] to determine the effects of deletion.[9][10][11][12] Additional screens performed: - In-depth immunological phenotyping[13] - in-depth bone and cartilage phenotyping[14]

References

  1. ↑ Sasaki S, Ito E, Toki T, Maekawa T, Kanezaki R, Umenai T, Muto A, Nagai H, Kinoshita T, Yamamoto M, Inazawa J, Taketo MM, Nakahata T, Igarashi K, Yokoyama M (August 2000). "Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15". Oncogene. 19 (33): 3739–49. doi:10.1038/sj.onc.1203716. PMID 10949928.
  2. ↑ Kamio T, Toki T, Kanezaki R, Sasaki S, Tandai S, Terui K, Ikebe D, Igarashi K, Ito E (November 2003). "B-cell-specific transcription factor BACH2 modifies the cytotoxic effects of anticancer drugs". Blood. 102 (9): 3317–22. doi:10.1182/blood-2002-12-3656. PMID 12829606.
  3. ↑ "Entrez Gene: BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2".
  4. ↑ Rosbrook GO, Stead MA, Carr SB, Wright SC (January 2012). "The structure of the Bach2 POZ-domain dimer reveals an intersubunit disulfide bond". Acta Crystallographica. Section D, Biological Crystallography. 68 (Pt 1): 26–34. doi:10.1107/S0907444911048335. PMID 22194330.
  5. ↑ Shen C, Gao J, Sheng Y, Dou J, Zhou F, Zheng X, Ko R, Tang X, Zhu C, Yin X, Sun L, Cui Y, Zhang X (2016). "Genetic Susceptibility to Vitiligo: GWAS Approaches for Identifying Vitiligo Susceptibility Genes and Loci". Frontiers in Genetics. 7: 3. doi:10.3389/fgene.2016.00003. PMC 4740779. PMID 26870082.
  6. ↑ Afzali B, Grönholm J, Vandrovcova J, O'Brien C, Sun HW, Vanderleyden I, et al. (July 2017). "BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency". Nature Immunology. 18 (7): 813–823. doi:10.1038/ni.3753. PMC 5593426. PMID 28530713.
  7. ↑ Gerdin AK (2010). "The Sanger Mouse Genetics Programme: high throughput characterisation of knockout mice". Acta Ophthalmologica. 88: 925–7. doi:10.1111/j.1755-3768.2010.4142.x.
  8. ↑ 8.0 8.1 "International Mouse Phenotyping Consortium".
  9. ↑ Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (June 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410. PMID 21677750.
  10. ↑ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  11. ↑ Collins FS, Rossant J, Wurst W (January 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247.
  12. ↑ White JK, Gerdin AK, Karp NA, Ryder E, Buljan M, Bussell JN, Salisbury J, Clare S, Ingham NJ, Podrini C, Houghton R, Estabel J, Bottomley JR, Melvin DG, Sunter D, Adams NC, Tannahill D, Logan DW, Macarthur DG, Flint J, Mahajan VB, Tsang SH, Smyth I, Watt FM, Skarnes WC, Dougan G, Adams DJ, Ramirez-Solis R, Bradley A, Steel KP (July 2013). "Genome-wide generation and systematic phenotyping of knockout mice reveals new roles for many genes". Cell. 154 (2): 452–64. doi:10.1016/j.cell.2013.06.022. PMC 3717207. PMID 23870131.
  13. ↑ 13.0 13.1 "Infection and Immunity Immunophenotyping (3i) Consortium".
  14. ↑ "OBCD Consortium".

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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