BACH2

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Identifiers
Aliases
External IDs	GeneCards: [1]
Orthologs
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a
Wikidata
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. It contains a BTB/POZ domain at its N-terminus which forms a disulphide-linked dimer 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. Mendelian BACH2-related immunodeficiency and autoimmunity (BRIDA) syndrome in humans is caused by haploinsufficiency of this transcription factor resulting from germline mutations.

Model organisms

Model organisms have been used in the study of BACH2 function. A conditional knockout mouse line called Bach2^{tm1a(EUCOMM)Wtsi} was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping - in-depth bone and cartilage phenotyping

Bach2 knockout mouse phenotype

Characteristic	Phenotype
All data available at.
Peripheral blood leukocytes 6 Weeks	Abnormal
Haematology 6 Weeks	Abnormal
Insulin	Normal
Homozygous viability at P14	Normal
Homozygous Fertility	Normal
Body weight	Normal
Neurological assessment	Normal
Grip strength	Normal
Dysmorphology	Normal
Indirect calorimetry	Normal
Glucose tolerance test	Abnormal
Auditory brainstem response	Normal
DEXA	Abnormal
Radiography	Normal
Eye morphology	Normal
Clinical chemistry	Normal
Haematology 16 Weeks	Normal
Peripheral blood leukocytes 16 Weeks	Abnormal
Heart weight	Normal
Salmonella infection	Normal
Cytotoxic T Cell Function	Abnormal
Spleen Immunophenotyping	Abnormal
Mesenteric Lymph Node Immunophenotyping	Normal
Bone Marrow Immunophenotyping	Normal
Epidermal Immune Composition	Abnormal
Influenza Challenge	Normal
Trichuris Challenge	Normal

Further reading

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

External links

• BACH2+protein,+human at the US National Library of Medicine Medical Subject Headings (MeSH)
• Human BACH2 genome location and BACH2 gene details page in the UCSC Genome Browser.

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