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BACH2 (BTB and CNC homology 1, basic leucine zipper transcription factor 2)

Written2010-01Malene Krag Kjeldsen, Karen Dybkaer, Jinghua Liu, Finn Skou Pedersen
Department of Haematology, Medical Center Aalborg Hospital Science, Innovation Center AHSIC, Sdr Skovvej 15, Aarhus University Hospital, DK-9000 Aalborg, Denmark (MKK, KD); Department of Molecular Biology, CF Mollers Alle 3, 1.130, Aarhus University, DK-8000 Arhus C, Denmark (JL, FSP)

(Note : for Links provided by Atlas : click)

Identity

Alias_namesBTB and CNC homology 1
Alias_symbol (synonym)BTBD25
Other alias
HGNC (Hugo) BACH2
LocusID (NCBI) 60468
Atlas_Id 741
Location 6q15  [Link to chromosome band 6q15]
Location_base_pair Starts at 89926528 and ends at 90296908 bp from pter ( according to hg19-Feb_2009)  [Mapping BACH2.png]
Local_order Reverse strand.
Fusion genes
(updated 2017)		Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ARHGAP6 (Xp22.2) / BACH2 (6q15)BACH2 (6q15) / BCL2L1 (20q11.21)BACH2 (6q15) / MAP3K7 (6q15)
BACH2 (6q15) / ZDHHC13 (11p15.1)NUDCD2 (5q34) / BACH2 (6q15)RAG2 (11p12) / BACH2 (6q15)
RNGTT (6q15) / BACH2 (6q15)STPG1 (1p36.11) / BACH2 (6q15)TBC1D22A (22q13.31) / BACH2 (6q15)

DNA/RNA

Description DNA:
NCBI Reference Sequence: NC_000006.11;
370316 bp DNA;
BACH2 consists of 9 exons and 8 intervening introns.
RNA:
NCBI Reference Sequence: NM_021813.2;
9215 bp mRNA.
Transcription Transcription produces at least four alternative spliced variants.
Pseudogene By FISH, Sasaki et al. (2000) mapped the BACH2 gene to chromosome 6q15. Southern blot analysis determined that BACH2 is a single-copy gene (Sasaki et al., 2000).

Protein

Description Reference sequence for BACH2 protein: NP_068585.1.
BACH2 contains 841 amino acid residues with a molecular weight of 92536 Da.
BACH2 belongs to the bZIP family and CNC subfamily.
BACH2 contains a BTB domain for protein interaction in the N-terminal region starting at amino acid residue 37 to 103. In the C-terminus from amino acid residue 651 to amino acid residue 666 a basic DNA binding domain, followed by a hydrophobic leucine zipper domain ranging from amino acid residue 674 to 695 responsible for dimerisation.
The four alternative spliced variants generate four different proteins:
1) BACH2-003, transcript ID: ENST00000257749 and protein ID: ENSP00000257749. This transcript contains all 9 exons and have the full length transcript at 9215 bps and a full length protein with 841 aa.
2) BACH2-005, transcript ID: ENST00000343122 and protein ID: ENSP00000345642. This transcript contains 7 exons (1, 4, 5, 6, 7, 8, 9) resulting in a transcript with 3981 bps and a protein with 841 aa.
3) BACH2-002, transcript ID: ENST00000406998 and protein ID: ENSP00000384145. This transcript contains only 4 alternative exons (1, 4, 5, 6) producing a transcript at 780 bps and a protein with 81 aa. This alternative protein only contains the BTB domain.
4) BACH2-007, transcript ID : ENST00000453877 and protein ID: ENSP00000397668. This transcript contains only 5 alternative exons (1, 2, 4, 5, 6), producing a transcript at 868 bps and 81 aa. This alterniative protein only contains the BTB domain.
Liu et al. have, in mice, identified an alternative promoter and new isoforms of BACH2 by using murine insertional mutagenesis (Liu et al., 2009).

Related proteins:
BACH1 and BACH2 are highly homologous proteins with significant similarity to each other in the bZIP and BTB domains. But the expression pattern and function of the two proteins are different. BACH1 is more ubiquitously expressed whereas BACH2 expression is restricted to mononuclear and neuronal cells. (Shim et al., 2006; Hoshino and Igarashi, 2002; Muto et al., 1998; Oyake et al., 1996).

Expression BACH2 is expressed mainly in B-lymphoid cells and in the fetal brain (Muto et al., 1998; Hoshino and Igarashi, 2002). During B cell differentiation BACH2 is expressed from the pro-B cell to the mature B-cell stages but is absent in the plasma cell stage (Igarashi et al., 2007). Its expression is also silenced in primary plasma cells (our unpublished observation). BACH2 is expressed in umbilical cord blood CD4+ T cells (Lesniewski et al., 2008).
Localisation BACH2 is predominantly cytoplasmic and migrates to the nucleus upon oxidative stress where it functions as a proapoptotic factor (Muto et al., 2002; Hoshino et al., 2000).
Function BACH2 protein is a transcriptional repressor or activator. BACH2 forms heterodimers with small Maf oncoproteins (MafF, MafG, MafK) through the BTB domain. It binds to Maf recognition elements (MARE) through the DNA binding domain bZIP. It plays important roles in coordinating transcription activation and repression by MAFK (by similarity) (Oyake et al., 1996).

BACH2 in B-cell differentation:
BACH2 is critical for antibody responses including class switch recombination (CSR) and somatic hypermutation (SH) of immunoglobulin genes (Muto et al., 2004). BACH2 and Bcl-6 cooporates to repress Prdm1, and thereby regulating B-cell differentiation through the germinal center (Ochiai et al., 2008).

Neuronal differentiation:
BACH2 seems to be involed in neuronal differentiation, by upregulating both cytoplasmic and nuclear p21 protein levels. P21 is a cdk inhibitor known to arrest the cell cycle. In N1E-115 cells regulation of differentiation involves a down regulation of cellular proliferation (Shim et al., 2006).

Immune response:
BACH2 is involved in the antiviral response triggered by dsRNA or dsDNA molecular patterns (Hong et al., 2008).

Homology HomoloGene (NCBI) BACH2 conserved in Euteleostomi. Genes identified as putative homologs:
NP_068585.1 BACH2 Homo sapiens
XP_539044.2 BACH2 Canis lupus familiaris
XP_618496.2 BACH2 Bos taurus
XP_232858.3 RGD1562865 Rattus norvegicus
XP_419833.2 BACH2 Gallus gallus
XP_682933.2 bach2 Danio rerio

Mutations

Note There are 11 SNPs in coding regions of human BACH2 of which 4 are encoding missense protein residues (NCBI dbSNP).
Bach2 is considered a B-cell specific tumor suppressor since loss of heterozygosity (LOH) is frequently observed for non-hodgkin lymphomas (Sasaki et al., 2000).
High throughput screens using retroviral and transposon insertion into mouse models have identified BACH2 as a common insertion site (CIS) (http://rtcgd.abcc.ncifcrf.gov/). BACH2 expression is in these models disrupted or activated in the resulting B cell tumours.
Homozygous null mice display impaired B cell differentiation and reduced B cell numbers.

Implicated in

Note
  
Entity Diffuse large B-cell lymphoma (DLBCL)
Note BACH2 expression was immunohistochemically examined for 108 DLBCL patients and for 2/3 of cases staining intensity in the cytoplasm of the tumor cells was weaker than that in the endothelial cells in the same specimens (Sakane-Ishikawa et al., 2005).
The translocation between the Bcl-2 and the immunoglobulin heavy-chain (IgH) gene, t(14;18)(q21;q34), is a common genetic alteration in follicular and DLBCL lymphomas, bringing the antiapoptotic Bcl-2 gene under regulation of the active IgH promoter in B-cells. This translocation should result in an upregulation of Bcl-2 due to the activity of the IgH promoter in B-cells. Green et al. demonstrated that patients with t(14;18) and a high expression of BACH2 had significantly lower Bcl-2 expression from the t(14;18) translocation (Green et al., 2009).
Disease DLBCL, a lymphoma entity characterised by an agressive malignancy of mature B-lymphocytes, is the most common type of B-NHL accounting for 30-40%. Bach2 is a B-cell specific tumor suppressor and relatively high frequencies of loss of heterozygosity (LOH), 20% in 25 cases, was detected for Bach2 (Sasaki et al., 2000).
Prognosis Most patients respond initially to chemotherapy, fewer than half of the patients achieve a durable remission. At present, the International Prognostic Index (IPI) is the most widely used for prediction of outcome in patients with aggresive NHL. It incorporates patient age performance status, serum lactate dehydrogenase (LDH), clinical stage, and the number of extranodal lesions. Bach2 expression level has proven to be a useful marker to predict disease-free and overall survival of patients with DLBCL, where a favorable prognosis is correlated with a high expression level of Bach2 protein (Sakane-Ishikawa et al., 2005), perhaps because over-expression of Bach2 increased cellular toxicity of anticancer drugs that generate reactive oxygen species (Kamio et al., 2003).
  
  
Entity Chronic myeloid leukemia (CML)
Note Comparison of the mRNA profile of a CML cell line, BV173, before and after imatinib treatment revealed an accumulation of BACH2 mRNA upon BCR-ABL kinase inhibition (Vieira et al., 2001). This up-regulation of BACH2 by imatinib was seen in lymphoid BCR-ABL1-positive cell lines, as well as in CD34+ cells from CML patients, but not in myeloid BCR-ABL1-positive cell lines. However, the relationship between the regulation of BACH2 and higher order nuclear structure in CML and human B cells remains unclear (Vieira et al., 2001; Yoshida et al., 2006).
Disease CML is a myeloproliferative disorder of the hematopoietic stem cell caused by a t(9;22)(q34;q11) translocation that generates the Philadelphia (Ph) chromosome. This translocation result in the expression of the fusion oncoprotein, Bcr-Abl, with uncontrolled tyrosine kinase activity. Bcr-Abl phsphorylates several substrates that activate multiple signaling pathways, including Ras, signal transducer and activator of transcription-5 (STAT-5), Janus kinase 2 (Jak-2) and others. This abnormal signaling leads to increased proliferation, reduced adhesion to the bone marrow stroma and extracellular matrix, and inhibition of the apoptotic response to mutagenic stimuli, giving rise to the malignant phenotype of CML (Yoshida et al., 2006).
  
  
Entity Burkitt's lymphoma
Note Epstein-Barr virus is an oncogenic virus, present in Burkitt's lymphoma cells. The Raji cell line (Burkitt's lymphoma) has no BACH2 expression and enforced BACH2 expression generates a marked reduction of clonogenic activity (Sasaki et al., 2000). Takakuwa and co-workers demonstrated that the EBV chromosome was present in intron 1 of the BACH2 gene located on chromosome 6q15. As BACH2 is a putative tumour suppressor gene, they suggest that loss of BACH2 might contribute to lymphomagenesis (Takakuwa et al., 2004).
  
  
Entity Ovarian cancer
Note Dysregulated androgen response in ovarian cancer results in transcriptional upregulation of BACH2 and acetylchrolinesterase. Both cytoplasmic BACH2 and acetylcholinesterase immunostaining were significantly increased in ovarian cancer relative to benign cases. Accumulation of nuclear BACH2 correlated with decreased time to disease recurrence (Motamed-Khorasani et al., 2007).
  
  
Entity Diabetes type 1
Note Type 1 diabetes is a common multifactorial with a strong genetic component. Genome wide association studies reveal that BACH2 is associated with Type 1 diabetes (Grant et al., 2009; Cooper et al., 2008).
  

Bibliography

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
Cooper JD, Smyth DJ, Smiles AM, Plagnol V, Walker NM, Allen JE, Downes K, Barrett JC, Healy BC, Mychaleckyj JC, Warram JH, Todd JA.
Nat Genet. 2008 Dec;40(12):1399-401. Epub 2008 Nov 2.
PMID 18978792
 
Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
Grant SF, Qu HQ, Bradfield JP, Marchand L, Kim CE, Glessner JT, Grabs R, Taback SP, Frackelton EC, Eckert AW, Annaiah K, Lawson ML, Otieno FG, Santa E, Shaner JL, Smith RM, Skraban R, Imielinski M, Chiavacci RM, Grundmeier RW, Stanley CA, Kirsch SE, Waggott D, Paterson AD, Monos DS; DCCT/EDIC Research Group, Polychronakos C, Hakonarson H.
Diabetes. 2009 Jan;58(1):290-5. Epub 2008 Oct 7.
PMID 18840781
 
High levels of BACH2 associated with lower levels of BCL2 transcript abundance in t(14;18)(q21;q34) translocation positive non-Hodgkin's lymphoma.
Green M, Gandhi MK, Camilleri E, Marlton P, Lea R, Griffiths L.
Leuk Res. 2009 May;33(5):731-4. Epub 2008 Oct 16.
PMID 18929412
 
The role of Bach2 in nucleic acid-triggered antiviral innate immune responses.
Hong SW, Kim S, Lee DK.
Biochem Biophys Res Commun. 2008 Jan 18;365(3):426-32. Epub 2007 Nov 6.
PMID 17991429
 
Expression of the oxidative stress-regulated transcription factor bach2 in differentiating neuronal cells.
Hoshino H, Igarashi K.
J Biochem. 2002 Sep;132(3):427-31.
PMID 12204112
 
Oxidative stress abolishes leptomycin B-sensitive nuclear export of transcription repressor Bach2 that counteracts activation of Maf recognition element.
Hoshino H, Kobayashi A, Yoshida M, Kudo N, Oyake T, Motohashi H, Hayashi N, Yamamoto M, Igarashi K.
J Biol Chem. 2000 May 19;275(20):15370-6.
PMID 10809773
 
Architecture and dynamics of the transcription factor network that regulates B-to-plasma cell differentiation.
Igarashi K, Ochiai K, Muto A.
J Biochem. 2007 Jun;141(6):783-9. (REVIEW)
PMID 17569706
 
B-cell-specific transcription factor BACH2 modifies the cytotoxic effects of anticancer drugs.
Kamio T, Toki T, Kanezaki R, Sasaki S, Tandai S, Terui K, Ikebe D, Igarashi K, Ito E.
Blood. 2003 Nov 1;102(9):3317-22. Epub 2003 Jun 26.
PMID 12829606
 
A combinatorial code for gene expression generated by transcription factor Bach2 and MAZR (MAZ-related factor) through the BTB/POZ domain.
Kobayashi A, Yamagiwa H, Hoshino H, Muto A, Sato K, Morita M, Hayashi N, Yamamoto M, Igarashi K.
Mol Cell Biol. 2000 Mar;20(5):1733-46.
PMID 10669750
 
Regulation of IL-2 expression by transcription factor BACH2 in umbilical cord blood CD4+ T cells.
Lesniewski ML, Haviernik P, Weitzel RP, Kadereit S, Kozik MM, Fanning LR, Yang YC, Hegerfeldt Y, Finney MR, Ratajczak MZ, Greco N, Paul P, Maciejewski J, Laughlin MJ.
Leukemia. 2008 Dec;22(12):2201-7. Epub 2008 Sep 4.
PMID 18769450
 
Identification of novel Bach2 transcripts and protein isoforms through tagging analysis of retroviral integrations in B-cell lymphomas.
Liu J, Sorensen AB, Wang B, Wabl M, Nielsen AL, Pedersen FS.
BMC Mol Biol. 2009 Jan 21;10:2.
PMID 19159451
 
Differentially androgen-modulated genes in ovarian epithelial cells from BRCA mutation carriers and control patients predict ovarian cancer survival and disease progression.
Motamed-Khorasani A, Jurisica I, Letarte M, Shaw PA, Parkes RK, Zhang X, Evangelou A, Rosen B, Murphy KJ, Brown TJ.
Oncogene. 2007 Jan 11;26(2):198-214. Epub 2006 Jul 10.
PMID 16832351
 
Identification of Bach2 as a B-cell-specific partner for small maf proteins that negatively regulate the immunoglobulin heavy chain gene 3' enhancer.
Muto A, Hoshino H, Madisen L, Yanai N, Obinata M, Karasuyama H, Hayashi N, Nakauchi H, Yamamoto M, Groudine M, Igarashi K.
EMBO J. 1998 Oct 1;17(19):5734-43.
PMID 9755173
 
The transcriptional programme of antibody class switching involves the repressor Bach2.
Muto A, Tashiro S, Nakajima O, Hoshino H, Takahashi S, Sakoda E, Ikebe D, Yamamoto M, Igarashi K.
Nature. 2004 Jun 3;429(6991):566-71. Epub 2004 May 19.
PMID 15152264
 
Plasmacytic transcription factor Blimp-1 is repressed by Bach2 in B cells.
Ochiai K, Katoh Y, Ikura T, Hoshikawa Y, Noda T, Karasuyama H, Tashiro S, Muto A, Igarashi K.
J Biol Chem. 2006 Dec 15;281(50):38226-34. Epub 2006 Oct 17.
PMID 17046816
 
Regulation of the plasma cell transcription factor Blimp-1 gene by Bach2 and Bcl6.
Ochiai K, Muto A, Tanaka H, Takahashi S, Igarashi K.
Int Immunol. 2008 Mar;20(3):453-60. Epub 2008 Feb 5.
PMID 18256039
 
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.
Oyake T, Itoh K, Motohashi H, Hayashi N, Hoshino H, Nishizawa M, Yamamoto M, Igarashi K.
Mol Cell Biol. 1996 Nov;16(11):6083-95.
PMID 8887638
 
Prognostic significance of BACH2 expression in diffuse large B-cell lymphoma: a study of the Osaka Lymphoma Study Group.
Sakane-Ishikawa E, Nakatsuka S, Tomita Y, Fujita S, Nakamichi I, Takakuwa T, Sugiyama H, Fukuhara S, Hino M, Kanamaru A, Soma T, Tsukaguchi M, Igarashi K, Kanakura Y, Aozasa K; Osaka Lymphoma Study Group.
J Clin Oncol. 2005 Nov 1;23(31):8012-7.
PMID 16258099
 
Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15.
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.
Oncogene. 2000 Aug 3;19(33):3739-49.
PMID 10949928
 
Bach2 is involved in neuronal differentiation of N1E-115 neuroblastoma cells.
Shim KS, Rosner M, Freilinger A, Lubec G, Hengstschlager M.
Exp Cell Res. 2006 Jul 15;312(12):2264-78. Epub 2006 Apr 24.
PMID 16631738
 
Integration of Epstein-Barr virus into chromosome 6q15 of Burkitt lymphoma cell line (Raji) induces loss of BACH2 expression.
Takakuwa T, Luo WJ, Ham MF, Sakane-Ishikawa F, Wada N, Aozasa K.
Am J Pathol. 2004 Mar;164(3):967-74.
PMID 14982850
 
Transcription factor BACH2 is transcriptionally regulated by the BCR/ABL oncogene.
Vieira SA, Deininger MW, Sorour A, Sinclair P, Foroni L, Goldman JM, Melo JV.
Genes Chromosomes Cancer. 2001 Dec;32(4):353-63.
PMID 11746976
 
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.
Yoshida C, Yoshida F, Sears DE, Hart SM, Ikebe D, Muto A, Basu S, Igarashi K, Melo JV.
Blood. 2007 Feb 1;109(3):1211-9. Epub 2006 Oct 3.
PMID 17018862
 

Citation

This paper should be referenced as such :
Kjeldsen, MK ; Dybkaer, K ; Liu, J ; Pedersen, FS
BACH2 (BTB, CNC homology 1, basic leucine zipper transcription factor 2)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(10):930-933.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/BACH2ID741ch6q15.html

Other Leukemias implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(6;20)(q15;q11.2) BACH2/BCL2L1
t(6;11)(q15;p15) BACH2/ZDHHC13
t(6;20)(q15;q11) BACH2/BCL2L1

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(6;22)(q15;q13) TBC1D22A/BACH2

External links

Nomenclature
HGNC (Hugo)BACH2   14078
Cards
AtlasBACH2ID741ch6q15
Entrez_Gene (NCBI)BACH2  60468  BTB domain and CNC homolog 2
AliasesBTBD25
GeneCards (Weizmann)BACH2
Ensembl hg19 (Hinxton)ENSG00000112182 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112182 [Gene_View]  ENSG00000112182 [Sequence]  chr6:89926528-90296908 [Contig_View]  BACH2 [Vega]
ICGC DataPortalENSG00000112182
TCGA cBioPortalBACH2
AceView (NCBI)BACH2
Genatlas (Paris)BACH2
WikiGenes60468
SOURCE (Princeton)BACH2
Genetics Home Reference (NIH)BACH2
Genomic and cartography
GoldenPath hg38 (UCSC)BACH2  -     chr6:89926528-90296908 -  6q15   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BACH2  -     6q15   [Description]    (hg19-Feb_2009)
EnsemblBACH2 - 6q15 [CytoView hg19]  BACH2 - 6q15 [CytoView hg38]
Mapping of homologs : NCBIBACH2 [Mapview hg19]  BACH2 [Mapview hg38]
OMIM605394   
Gene and transcription
Genbank (Entrez)AA885077 AB208889 AF357835 AI524722 AJ271878
RefSeq transcript (Entrez)NM_001170794 NM_021813
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BACH2
Cluster EST : UnigeneHs.269764 [ NCBI ]
CGAP (NCI)Hs.269764
Alternative Splicing GalleryENSG00000112182
Gene ExpressionBACH2 [ NCBI-GEO ]   BACH2 [ EBI - ARRAY_EXPRESS ]   BACH2 [ SEEK ]   BACH2 [ MEM ]
Gene Expression Viewer (FireBrowse)BACH2 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)60468
GTEX Portal (Tissue expression)BACH2
Human Protein AtlasENSG00000112182-BACH2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BYV9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BYV9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BYV9
Splice isoforms : SwissVarQ9BYV9
PhosPhoSitePlusQ9BYV9
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    BZIP (PS50217)    BZIP_BASIC (PS00036)   
Domains : Interpro (EBI)BTB/POZ_dom    bZIP    bZIP_Maf    SKP1/BTB/POZ_sf    TF_DNA-bd_sf   
Domain families : Pfam (Sanger)BTB (PF00651)    bZIP_Maf (PF03131)   
Domain families : Pfam (NCBI)pfam00651    pfam03131   
Domain families : Smart (EMBL)BRLZ (SM00338)  BTB (SM00225)  
Conserved Domain (NCBI)BACH2
DMDM Disease mutations60468
Blocks (Seattle)BACH2
PDB (SRS)3OHU    3OHV   
PDB (PDBSum)3OHU    3OHV   
PDB (IMB)3OHU    3OHV   
PDB (RSDB)3OHU    3OHV   
Structural Biology KnowledgeBase3OHU    3OHV   
SCOP (Structural Classification of Proteins)3OHU    3OHV   
CATH (Classification of proteins structures)3OHU    3OHV   
SuperfamilyQ9BYV9
Human Protein Atlas [tissue]ENSG00000112182-BACH2 [tissue]
Peptide AtlasQ9BYV9
HPRD12012
IPIIPI00029178   IPI00220582   
Protein Interaction databases
DIP (DOE-UCLA)Q9BYV9
IntAct (EBI)Q9BYV9
FunCoupENSG00000112182
BioGRIDBACH2
STRING (EMBL)BACH2
ZODIACBACH2
Ontologies - Pathways
QuickGOQ9BYV9
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  DNA-binding transcription factor activity  nucleus  nucleus  cytosol  regulation of transcription, DNA-templated  protein ubiquitination  import into nucleus  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  RNA polymerase II distal enhancer sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding  DNA-binding transcription factor activity  nucleus  nucleus  cytosol  regulation of transcription, DNA-templated  protein ubiquitination  import into nucleus  
NDEx NetworkBACH2
Atlas of Cancer Signalling NetworkBACH2
Wikipedia pathwaysBACH2
Orthology - Evolution
OrthoDB60468
GeneTree (enSembl)ENSG00000112182
Phylogenetic Trees/Animal Genes : TreeFamBACH2
HOVERGENQ9BYV9
HOGENOMQ9BYV9
Homologs : HomoloGeneBACH2
Homology/Alignments : Family Browser (UCSC)BACH2
Gene fusions - Rearrangements
Fusion : MitelmanBACH2/BCL2L1 [6q15/20q11.21]  
Fusion : MitelmanBACH2/ZDHHC13 [6q15/11p15.1]  [t(6;11)(q15;p15)]  
Fusion : MitelmanIGH/BACH2 [14q32.33/6q15]  [t(6;14)(q15;q32)]  
Fusion : MitelmanTBC1D22A/BACH2 [22q13.31/6q15]  [t(6;22)(q15;q13)]  
Fusion PortalBACH2 6q15 MAP3K7 6q15 LGG
Fusion PortalRNGTT 6q15 BACH2 6q15 BRCA
Fusion PortalTBC1D22A 22q13.31 BACH2 6q15 SKCM
Fusion : TICdbBACH2 [6q15]  -  BCL2L1 [20q11.21]
Fusion : QuiverBACH2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBACH2 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BACH2
dbVarBACH2
ClinVarBACH2
1000_GenomesBACH2 
Exome Variant ServerBACH2
ExAC (Exome Aggregation Consortium)ENSG00000112182
GNOMAD BrowserENSG00000112182
Varsome BrowserBACH2
Genetic variants : HAPMAP60468
Genomic Variants (DGV)BACH2 [DGVbeta]
DECIPHERBACH2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBACH2 
Mutations
ICGC Data PortalBACH2 
TCGA Data PortalBACH2 
Broad Tumor PortalBACH2
OASIS PortalBACH2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBACH2  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBACH2
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BACH2
DgiDB (Drug Gene Interaction Database)BACH2
DoCM (Curated mutations)BACH2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BACH2 (select a term)
intoGenBACH2
NCG5 (London)BACH2
Cancer3DBACH2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605394   
Orphanet
DisGeNETBACH2
MedgenBACH2
Genetic Testing Registry BACH2
NextProtQ9BYV9 [Medical]
TSGene60468
GENETestsBACH2
Target ValidationBACH2
Huge Navigator BACH2 [HugePedia]
snp3D : Map Gene to Disease60468
BioCentury BCIQBACH2
ClinGenBACH2
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD60468
Chemical/Pharm GKB GenePA25235
Clinical trialBACH2
Miscellaneous
canSAR (ICR)BACH2 (select the gene name)
Probes
Litterature
PubMed79 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBACH2
EVEXBACH2
GoPubMedBACH2
iHOPBACH2
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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