BACH2

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BACH2
3ohu.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases BACH2, BTBD25, BTB domain and CNC homolog 2
External IDs MGI: 894679 HomoloGene: 7240 GeneCards: 60468
Genetically Related Diseases
Disease Name References
diabetes mellitus type 1
obesity
Vitiligo
multiple sclerosis
Crohn's disease
coeliac disease
RNA expression pattern
PBB GE BACH2 221234 s at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001170794
NM_021813

NM_001109661
NM_007521

RefSeq (protein)

NP_001164265.1
NP_068585.1

NP_001103131.1

Location (UCSC) Chr 6: 89.93 – 90.3 Mb Chr 4: 32.24 – 32.59 Mb
PubMed search [7] [8]
Wikidata
View/Edit Human View/Edit Mouse

Transcription regulator protein BACH2 is a protein that in humans is encoded by the BACH2 gene.[9][10][11] It contains a BTB/POZ domain at its N-terminus which forms a disulphide-linked dimer [12] and a bZip_Maf domain at the C-terminus.

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.[13] Male and female animals underwent a standardized phenotypic screen[14] to determine the effects of deletion.[15][16][17][18] Additional screens performed: - In-depth immunological phenotyping[19] - in-depth bone and cartilage phenotyping[20]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_9744&geneId=321802". 
  2. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_9970&geneId=321802". 
  3. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_12306&geneId=321802". 
  4. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_2377&geneId=321802". 
  5. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_8778&geneId=321802". 
  6. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_10608&geneId=321802". 
  7. ^ "Human PubMed Reference:". 
  8. ^ "Mouse PubMed Reference:". 
  9. ^ 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 (Aug 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. 
  10. ^ Kamio T, Toki T, Kanezaki R, Sasaki S, Tandai S, Terui K, Ikebe D, Igarashi K, Ito E (Nov 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. 
  11. ^ "Entrez Gene: BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2". 
  12. ^ Rosbrook GO, Stead MA, Carr SB, Wright SC (Jan 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. 
  13. ^ 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. 
  14. ^ a b "International Mouse Phenotyping Consortium". 
  15. ^ 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 (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC 3572410free to read. PMID 21677750. 
  16. ^ Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID 21677718. 
  17. ^ Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi:10.1016/j.cell.2006.12.018. PMID 17218247. 
  18. ^ 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 (Jul 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 3717207free to read. PMID 23870131. 
  19. ^ a b "Infection and Immunity Immunophenotyping (3i) Consortium". 
  20. ^ "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.