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Aliases for BACH2 Gene

Aliases for BACH2 Gene

  • BTB Domain And CNC Homolog 2 2 3 5
  • BTB And CNC Homology 1, Basic Leucine Zipper Transcription Factor 2 2 3
  • BTB And CNC Homolog 2 3 4
  • Transcription Regulator Protein BACH2 3
  • BTBD25 3

External Ids for BACH2 Gene

Previous GeneCards Identifiers for BACH2 Gene

  • GC06M090582
  • GC06M090631
  • GC06M090692
  • GC06M087855
  • GC06M090636

Summaries for BACH2 Gene

GeneCards Summary for BACH2 Gene

BACH2 (BTB Domain And CNC Homolog 2) is a Protein Coding gene. Diseases associated with BACH2 include Lymphoma, Non-Hodgkin and Leukemia, Chronic Myeloid, Somatic. Among its related pathways are NF-kappaB Signaling. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and RNA polymerase II distal enhancer sequence-specific DNA binding. An important paralog of this gene is GRIK1-AS2.

UniProtKB/Swiss-Prot for BACH2 Gene

  • Transcriptional regulator that acts as repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 (PubMed:17018862). Positively regulates the nuclear import of actin (By similarity).

Gene Wiki entry for BACH2 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for BACH2 Gene

Genomics for BACH2 Gene

Regulatory Elements for BACH2 Gene

Enhancers for BACH2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06G090283 1.9 FANTOM5 Ensembl ENCODE dbSUPER 22 +11.5 11480 3.5 PKNOX1 ATF1 SIN3A ZNF2 ELK1 GATA2 CBX5 ZNF416 ZNF143 FOS BACH2 ENSG00000226455 MDN1 LOC105377890
GH06G090271 1.6 FANTOM5 Ensembl ENCODE dbSUPER 20.2 +22.8 22812 5.5 SCRT1 CTCF MTA2 FEZF1 TBX21 RAD21 ZSCAN21 PRDM6 SCRT2 ZXDB BACH2 MDN1 LOC105377890
GH06G090214 2.6 Ensembl ENCODE dbSUPER 11.7 +78.9 78908 6.2 FOXA2 PKNOX1 SIN3A FEZF1 ZNF2 YY1 FOS ZNF263 SP3 REST MDN1 BACH2 CASP8AP2 LOC105377890
GH06G090292 1.6 FANTOM5 ENCODE dbSUPER 18.2 +1.4 1383 5.3 FOXA2 ATF1 SIN3A ZNF2 GLIS2 CBX5 KLF13 ZNF263 SP3 TSHZ1 BACH2 MDN1 LOC105377890
GH06G090135 1.5 Ensembl ENCODE dbSUPER 10.8 +160.0 160022 3.6 PKNOX1 ATF1 ZNF133 FEZF1 GLI4 ZNF2 FOS KLF7 ZNF548 ZNF263 CASP8AP2 BACH2 ENSG00000218730 LOC105377890
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around BACH2 on UCSC Golden Path with GeneCards custom track

Promoters for BACH2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000200000 808 2601 FOXA2 ATF1 SIN3A ZNF2 GLIS2 CBX5 KLF13 ZNF263 SP3 TSHZ1

Genomic Location for BACH2 Gene

Chromosome:
6
Start:
89,926,528 bp from pter
End:
90,296,908 bp from pter
Size:
370,381 bases
Orientation:
Minus strand

Genomic View for BACH2 Gene

Genes around BACH2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
BACH2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for BACH2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for BACH2 Gene

Proteins for BACH2 Gene

  • Protein details for BACH2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9BYV9-BACH2_HUMAN
    Recommended name:
    Transcription regulator protein BACH2
    Protein Accession:
    Q9BYV9
    Secondary Accessions:
    • E1P518
    • Q59H70
    • Q5T793
    • Q9NTS5

    Protein attributes for BACH2 Gene

    Size:
    841 amino acids
    Molecular mass:
    92537 Da
    Quaternary structure:
    • Homodimer; disulfide-linked (PubMed:22194330). Heterodimer of BACH2 and Maf-related transcription factors (By similarity).
    SequenceCaution:
    • Sequence=BAD92126.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for BACH2 Gene

neXtProt entry for BACH2 Gene

Post-translational modifications for BACH2 Gene

  • Phosphorylation at Ser-521 downstream of the PI-3K pathway promotes nuclear export.
  • The reversible disulfide bond may provide a mechanism to regulate the activity in oxidative stress responses.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for BACH2 Gene

Domains & Families for BACH2 Gene

Suggested Antigen Peptide Sequences for BACH2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9BYV9

UniProtKB/Swiss-Prot:

BACH2_HUMAN :
  • Belongs to the bZIP family. CNC subfamily.
Family:
  • Belongs to the bZIP family. CNC subfamily.
genes like me logo Genes that share domains with BACH2: view

Function for BACH2 Gene

Molecular function for BACH2 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional regulator that acts as repressor or activator (By similarity). Binds to Maf recognition elements (MARE) (By similarity). Plays an important role in coordinating transcription activation and repression by MAFK (By similarity). Induces apoptosis in response to oxidative stress through repression of the antiapoptotic factor HMOX1 (PubMed:17018862). Positively regulates the nuclear import of actin (By similarity).

Gene Ontology (GO) - Molecular Function for BACH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IBA --
GO:0001206 transcriptional repressor activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
GO:0003700 transcription factor activity, sequence-specific DNA binding IBA --
GO:0004842 contributes_to ubiquitin-protein transferase activity IBA --
genes like me logo Genes that share ontologies with BACH2: view
genes like me logo Genes that share phenotypes with BACH2: view

Animal Models for BACH2 Gene

MGI Knock Outs for BACH2:

Animal Model Products

CRISPR Products

miRNA for BACH2 Gene

Transcription Factor Targets for BACH2 Gene

Selected GeneGlobe predicted Target genes for BACH2
Targeted motifs for BACH2 Gene
HOMER Transcription Factor Regulatory Elements motif BACH2
  • Consensus sequence: TGCTGAGTCA Submotif: canonical Cell Type: OCILy7 GEO ID: GSE44420

Inhibitory RNA Products

No data available for Enzyme Numbers (IUBMB) and Human Phenotype Ontology for BACH2 Gene

Localization for BACH2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for BACH2 Gene

Cytoplasm. Nucleus. Note=Nucleocytoplasmic shuttling is controlled by phosphorylation. {ECO:0000269 PubMed:17018862}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for BACH2 gene
Compartment Confidence
nucleus 5
cytosol 4

Gene Ontology (GO) - Cellular Components for BACH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA --
GO:0031463 Cul3-RING ubiquitin ligase complex IBA --
genes like me logo Genes that share ontologies with BACH2: view

Pathways & Interactions for BACH2 Gene

SuperPathways for BACH2 Gene

SuperPathway Contained pathways
1 NF-kappaB Signaling
genes like me logo Genes that share pathways with BACH2: view

Pathways by source for BACH2 Gene

1 Cell Signaling Technology pathway for BACH2 Gene

Gene Ontology (GO) - Biological Process for BACH2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006366 transcription from RNA polymerase II promoter IBA --
GO:0016567 protein ubiquitination IEA --
genes like me logo Genes that share ontologies with BACH2: view

No data available for SIGNOR curated interactions for BACH2 Gene

Drugs & Compounds for BACH2 Gene

(4) Drugs for BACH2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for BACH2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with BACH2: view

Transcripts for BACH2 Gene

Unigene Clusters for BACH2 Gene

BTB and CNC homology 1, basic leucine zipper transcription factor 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for BACH2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10
SP1: -
SP2: - - -
SP3:

Relevant External Links for BACH2 Gene

GeneLoc Exon Structure for
BACH2
ECgene alternative splicing isoforms for
BACH2

Expression for BACH2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for BACH2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for BACH2 Gene

This gene is overexpressed in Platelet (32.2), Blymphocyte (18.9), and Peripheral blood mononuclear cells (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for BACH2 Gene



Protein tissue co-expression partners for BACH2 Gene

NURSA nuclear receptor signaling pathways regulating expression of BACH2 Gene:

BACH2

SOURCE GeneReport for Unigene cluster for BACH2 Gene:

Hs.269764

mRNA Expression by UniProt/SwissProt for BACH2 Gene:

Q9BYV9-BACH2_HUMAN
Tissue specificity: B-cell specific.

Evidence on tissue expression from TISSUES for BACH2 Gene

  • Nervous system(4.6)
  • Blood(2.4)
  • Bone marrow(2.3)
  • Lymph node(2)
genes like me logo Genes that share expression patterns with BACH2: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer for BACH2 Gene

Orthologs for BACH2 Gene

This gene was present in the common ancestor of animals.

Orthologs for BACH2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia BACH2 35 34
  • 99.08 (n)
OneToOne
dog
(Canis familiaris)
Mammalia BACH2 35 34
  • 91.62 (n)
OneToOne
cow
(Bos Taurus)
Mammalia BACH2 34 35
  • 90.61 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 90 (a)
ManyToMany
mouse
(Mus musculus)
Mammalia Bach2 16 35 34
  • 87.95 (n)
rat
(Rattus norvegicus)
Mammalia RGD1562865 34
  • 87.51 (n)
oppossum
(Monodelphis domestica)
Mammalia BACH2 35
  • 82 (a)
OneToOne
chicken
(Gallus gallus)
Aves BACH2 34 35
  • 79.83 (n)
lizard
(Anolis carolinensis)
Reptilia BACH2 35
  • 79 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia bach2 34
  • 73.08 (n)
zebrafish
(Danio rerio)
Actinopterygii bach2b 34 35
  • 64.48 (n)
fruit fly
(Drosophila melanogaster)
Insecta cnc 35
  • 9 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 23 (a)
OneToMany
Species where no ortholog for BACH2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for BACH2 Gene

ENSEMBL:
Gene Tree for BACH2 (if available)
TreeFam:
Gene Tree for BACH2 (if available)

Paralogs for BACH2 Gene

Variants for BACH2 Gene

Sequence variations from dbSNP and Humsavar for BACH2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs1000005631 -- 90,250,124(+) CTGAA(C/T)GAAAG intron-variant
rs1000008812 -- 90,079,443(+) TTTTT(A/T)AAAAA intron-variant
rs1000016257 -- 90,108,239(+) AGATC(C/T)CAAGG intron-variant
rs1000017691 -- 89,958,011(+) ATAAA(C/T)GGAGT intron-variant
rs1000018247 -- 90,154,188(+) AGAAT(A/T)GCAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for BACH2 Gene

Variant ID Type Subtype PubMed ID
dgv10837n54 CNV loss 21841781
esv2499312 CNV deletion 19546169
esv275360 CNV gain+loss 21479260
esv28039 CNV loss 19812545
esv3304694 CNV mobile element insertion 20981092
esv3309055 CNV mobile element insertion 20981092
esv3350061 CNV insertion 20981092
esv3440926 CNV insertion 20981092
esv3449602 CNV insertion 20981092
esv3452003 CNV insertion 20981092
esv3609913 CNV loss 21293372
esv3609914 CNV loss 21293372
esv3609915 CNV loss 21293372
esv3609916 CNV loss 21293372
esv3609919 CNV loss 21293372
esv3890901 CNV gain 25118596
nsv1074419 CNV deletion 25765185
nsv1114853 CNV deletion 24896259
nsv1137125 CNV deletion 24896259
nsv604125 CNV gain 21841781
nsv604126 CNV gain 21841781
nsv604127 CNV loss 21841781
nsv604130 CNV gain 21841781

Variation tolerance for BACH2 Gene

Residual Variation Intolerance Score: 25.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.54; 44.34% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for BACH2 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
BACH2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for BACH2 Gene

Disorders for BACH2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for BACH2 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
lymphoma, non-hodgkin
  • lymphoma, non-hodgkin, somatic
leukemia, chronic myeloid, somatic
  • leukemia, chronic myeloid
- elite association - COSMIC cancer census association via MalaCards
Search BACH2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for BACH2

Genetic Association Database (GAD)
BACH2
Human Genome Epidemiology (HuGE) Navigator
BACH2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
BACH2
genes like me logo Genes that share disorders with BACH2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for BACH2 Gene

Publications for BACH2 Gene

  1. Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15. (PMID: 10949928) Sasaki S. … Yokoyama M. (Oncogene 2000) 2 3 4 22 64
  2. 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. (PMID: 17018862) Yoshida C. … Melo J.V. (Blood 2007) 3 4 22 64
  3. B-cell-specific transcription factor BACH2 modifies the cytotoxic effects of anticancer drugs. (PMID: 12829606) Kamio T. … Ito E. (Blood 2003) 2 3 22 64
  4. Transcription factor BACH2 is transcriptionally regulated by the BCR/ABL oncogene. (PMID: 11746976) Vieira S.A.D. … Melo J.V. (Genes Chromosomes Cancer 2001) 3 4 22 64
  5. The structure of the Bach2 POZ-domain dimer reveals an intersubunit disulfide bond. (PMID: 22194330) Rosbrook G.O. … Wright S.C. (Acta Crystallogr. D Biol. Crystallogr. 2012) 3 4 64

Products for BACH2 Gene

Sources for BACH2 Gene

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