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Available structures
PDBOrtholog search: PDBe RCSB
AliasesBACH2, BTBD25, BTB domain and CNC homolog 2, IMD60
External IDsMGI: 894679 HomoloGene: 7240 GeneCards: BACH2
Gene location (Human)
Chromosome 6 (human)
Chr.Chromosome 6 (human)[1]
Chromosome 6 (human)
Genomic location for BACH2
Genomic location for BACH2
Band6q15Start89,926,528 bp[1]
End90,296,908 bp[1]
RNA expression pattern
PBB GE BACH2 221234 s at fs.png
More reference expression data
RefSeq (mRNA)



RefSeq (protein)



Location (UCSC)Chr 6: 89.93 – 90.3 MbChr 4: 32.24 – 32.59 Mb
PubMed search[3][4]
View/Edit HumanView/Edit Mouse

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.[5][6][7] It contains a BTB/POZ domain at its N-terminus which forms a disulphide-linked dimer [8] and a bZip_Maf domain at the C-terminus.

Disease associations[edit]

Single nucleotide variants in BACH2 have been linked to a number of autoimmune diseases in humans.[9] Mendelian BACH2-related immunodeficiency and autoimmunity (BRIDA) syndrome in humans is caused by haploinsufficiency of this transcription factor resulting from germline mutations.[10]

Model organisms[edit]

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.[11] Male and female animals underwent a standardized phenotypic screen[12] to determine the effects of deletion.[13][14][15][16] Additional screens performed: - In-depth immunological phenotyping[17] - in-depth bone and cartilage phenotyping[18]


  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000112182 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000040270 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:".
  4. ^ "Mouse PubMed Reference:".
  5. ^ 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.
  6. ^ 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.
  7. ^ "Entrez Gene: BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2".
  8. ^ 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. 68 (Pt 1): 26–34. doi:10.1107/S0907444911048335. PMID 22194330.
  9. ^ 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.
  10. ^ 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.
  11. ^ 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.
  12. ^ a b "International Mouse Phenotyping Consortium".
  13. ^ 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.
  14. ^ Dolgin E (June 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718.
  15. ^ 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.
  16. ^ 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.
  17. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium".
  18. ^ "OBCD Consortium".

Further reading[edit]

External links[edit]

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