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    BACH2 BTB domain and CNC homolog 2 [ Homo sapiens (human) ]

    Gene ID: 60468, updated on 9-Dec-2024

    Summary

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    Official Symbol
    BACH2provided by HGNC
    Official Full Name
    BTB domain and CNC homolog 2provided by HGNC
    Primary source
    HGNC:HGNC:14078
    See related
    Ensembl:ENSG00000112182 MIM:605394; AllianceGenome:HGNC:14078
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    IMD60; BTBD25
    Summary
    Enables sequence-specific double-stranded DNA binding activity. Involved in primary adaptive immune response involving T cells and B cells. Located in cytosol and nucleoplasm. Part of RNA polymerase II transcription regulator complex. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in lymph node (RPKM 7.1), appendix (RPKM 2.5) and 10 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See BACH2 in Genome Data Viewer
    Location:
    6q15
    Exon count:
    9
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89926528..90296843, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (91138217..91508429, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (90636247..91006562, complement)

    Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:90596851-90597424 Neighboring gene MPRA-validated peak5956 silencer Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:90620440-90621084 Neighboring gene G protein pathway suppressor 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 14578 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr6:90644322-90644822 Neighboring gene gap junction protein alpha 10 Neighboring gene RN7SK pseudogene 110 Neighboring gene Sharpr-MPRA regulatory region 1684 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90866227 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:90866333-90867532 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90883525 Neighboring gene MED14-independent group 3 enhancer GRCh37_chr6:90894000-90895199 Neighboring gene uncharacterized LOC105377890 Neighboring gene Sharpr-MPRA regulatory region 6453 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:90927428-90928086 Neighboring gene P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:90931785-90932984 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90941289 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24833 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90981657 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:90982387 Neighboring gene H3K27ac hESC enhancer GRCh37_chr6:90995265-90995765 Neighboring gene uncharacterized LOC124901361 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17397 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24834 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17398 Neighboring gene uncharacterized LOC105377891 Neighboring gene NANOG hESC enhancer GRCh37_chr6:91008275-91008776 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:91012867 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:91036267 Neighboring gene melanoma risk locus-associated MPRA allelic enhancer 6:91037287 Neighboring gene microRNA 4464 Neighboring gene MPRA-validated peak5961 silencer Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr6:91078586-91079785 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:91095435-91096029 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr6:91117202-91117738 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24835 Neighboring gene NANOG-H3K4me1 hESC enhancer GRCh37_chr6:91122537-91123478 Neighboring gene OCT4-NANOG-H3K4me1 hESC enhancer GRCh37_chr6:91123479-91124420 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 24836 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 17399 Neighboring gene uncharacterized LOC124901362 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr6:91204071-91204730 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:91204758-91205314 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr6:91205315-91205871 Neighboring gene Sharpr-MPRA regulatory region 8521

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. A BACH2 Gene Variant Is Associated with Postoperative Recurrence of Crohn's Disease. Laffin MR, et al. J Am Coll Surg, 2018 May. PMID 29452228
    2. The role of Bach2 in nucleic acid-triggered antiviral innate immune responses. Hong SW, et al. Biochem Biophys Res Commun, 2008 Jan 18. PMID 17991429
    3. The rs11755527 polymorphism in the BACH2 gene and type 1 diabetes mellitus: case control study in a Brazilian population. Dieter C, et al. Arch Endocrinol Metab, 2020 Apr. PMID 32236312, Free PMC Article
    4. The Critical Role of Bach2 in Shaping the Balance between CD4(+) T Cell Subsets in Immune-Mediated Diseases. Yang L, et al. Mediators Inflamm, 2019. PMID 32082072, Free PMC Article
    5. BACH2 regulates the function of human CD4(+) CD45RA(-) Foxp3(l) ° cytokine-secreting T cells and promotes B-cell response in systemic lupus erythematosus. Zheng Y, et al. Eur J Immunol, 2020 Mar. PMID 31808546

    See all (117) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Genetic polymorphisms of BACH2, a key gene regulating Th2 immune response, increasing risk of allergic rhinitis.
      Title: Genetic polymorphisms of BACH2, a key gene regulating Th2 immune response, increasing risk of allergic rhinitis.
    2. BACH2 regulates diversification of regulatory and proinflammatory chromatin states in TH17 cells.
      Title: BACH2 regulates diversification of regulatory and proinflammatory chromatin states in T(H)17 cells.
    3. Intergenic risk variant rs56258221 skews the fate of naive CD4[+] T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.
      Title: Intergenic risk variant rs56258221 skews the fate of naive CD4(+) T cells via miR4464-BACH2 interplay in primary sclerosing cholangitis.
    4. The role of Bach2 in regulating CD8 + T cell development and function.
      Title: The role of Bach2 in regulating CD8 + T cell development and function.
    5. Exploring novel functions of BACH2 in the acquisition of antigen-specific antibodies.
      Title: Exploring novel functions of BACH2 in the acquisition of antigen-specific antibodies.
    6. Bach2 in CD4[+] T cells from SLE patients modulates B-cell differentiation and IgG production.
      Title: Bach2 in CD4(+) T cells from SLE patients modulates B-cell differentiation and IgG production.
    7. BACH2 restricts NK cell maturation and function, limiting immunity to cancer metastasis.
      Title: BACH2 restricts NK cell maturation and function, limiting immunity to cancer metastasis.
    8. Correlation of the transcription factors IRF4 and BACH2 with the abnormal NFATC1 expression in T cells from chronic myeloid leukemia patients.
      Title: Correlation of the transcription factors IRF4 and BACH2 with the abnormal NFATC1 expression in T cells from chronic myeloid leukemia patients.
    9. CRISPR/Cas9-Mediated Insertion of HIV Long Terminal Repeat within BACH2 Promotes Expansion of T Regulatory-like Cells.
      Title: CRISPR/Cas9-Mediated Insertion of HIV Long Terminal Repeat within BACH2 Promotes Expansion of T Regulatory-like Cells.
    10. Transcriptional behavior of the HIV-1 promoter in context of the BACH2 prominent proviral integration gene.
      Title: Transcriptional behavior of the HIV-1 promoter in context of the BACH2 prominent proviral integration gene.
    Submit: New GeneRIF Correction See all GeneRIFs (71)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    Immunodeficiency 60
    MedGen: C5193072 OMIM: 618394 GeneReviews: Not available
    		Compare labs

    EBI GWAS Catalog

    Description
    A genome-wide association study identifies two new risk loci for Graves' disease.
    EBI GWAS Catalog
    Common genetic variation and performance on standardized cognitive tests.
    EBI GWAS Catalog
    Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
    EBI GWAS Catalog
    Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
    EBI GWAS Catalog
    Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo.
    EBI GWAS Catalog
    Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
    EBI GWAS Catalog
    Genome-wide association for abdominal subcutaneous and visceral adipose reveals a novel locus for visceral fat in women.
    EBI GWAS Catalog
    Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
    EBI GWAS Catalog
    Genome-wide association study of celiac disease in North America confirms FRMD4B as new celiac locus.
    EBI GWAS Catalog
    Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
    EBI GWAS Catalog
    Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
    EBI GWAS Catalog
    Identification of novel genetic Loci associated with thyroid peroxidase antibodies and clinical thyroid disease.
    EBI GWAS Catalog
    Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.
    EBI GWAS Catalog
    Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
    EBI GWAS Catalog
    Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.
    EBI GWAS Catalog
    Multiple common variants for celiac disease influencing immune gene expression.
    EBI GWAS Catalog
    Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    Protein interactions

    Protein Gene Interaction Pubs
    integrase gag-pol Analysis of HIV-1 proviral integration sites in antiretroviral treatment patients indicates that BACH2 gene favors HIV-1 integration for expansion and persistence of infected cells, suggesting HIV-1 IN interacts with BACH2 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription factor activity, RNA polymerase II-specific IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription factor activity, RNA polymerase II-specific ISA
    Inferred from Sequence Alignment
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables sequence-specific double-stranded DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in import into nucleus ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in primary adaptive immune response involving T cells and B cells IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of RNA polymerase II transcription regulator complex IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    part_of RNA polymerase II transcription regulator complex ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
    		  
    located_in cytosol IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleus NAS
    Non-traceable Author Statement
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    transcription regulator protein BACH2
    Names
    BTB and CNC homolog 2
    BTB and CNC homology 1, basic leucine zipper transcription factor 2

    NCBI Reference Sequences (RefSeq)

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    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001170794.2 → NP_001164265.1  transcription regulator protein BACH2

      See identical proteins and their annotated locations for NP_001164265.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) lacks two exons in the 5' UTR, compared to variant 1. Variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB208889, AJ271878, AL353692, CN261405, DB240991
      Consensus CDS
      CCDS5026.1
      UniProtKB/Swiss-Prot
      E1P518, Q59H70, Q5T793, Q9BYV9, Q9NTS5
      Related
      ENSP00000384145.3, ENST00000406998.7
      Conserved Domains (2) summary
      cd14719
      Location:640 → 710
      bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
      cd18278
      Location:6 → 129
      BTB_POZ_BACH2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB and CNC homolog 2 (BACH2)

    2. NM_021813.4 → NP_068585.1  transcription regulator protein BACH2

      See identical proteins and their annotated locations for NP_068585.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
      Source sequence(s)
      AB208889, AI524722, AJ271878, AL353692, CN261405, DB240991
      Consensus CDS
      CCDS5026.1
      UniProtKB/Swiss-Prot
      E1P518, Q59H70, Q5T793, Q9BYV9, Q9NTS5
      Related
      ENSP00000257749.4, ENST00000257749.9
      Conserved Domains (2) summary
      cd14719
      Location:640 → 710
      bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
      cd18278
      Location:6 → 129
      BTB_POZ_BACH2; BTB (Broad-Complex, Tramtrack and Bric a brac)/POZ (poxvirus and zinc finger) domain found in BTB and CNC homolog 2 (BACH2)

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000006.12 Reference GRCh38.p14 Primary Assembly

      Range
      89926528..90296843 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_017363815.1 Reference GRCh38.p14 PATCHES

      Range
      124216..136040 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060930.1 Alternate T2T-CHM13v2.0

      Range
      91138217..91508429 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q9BYV9.1 GenPept UniProtKB/Swiss-Prot:Q9BYV9

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
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