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

Summary

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

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_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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

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

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Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D6S1351 (e-PCR)
- UniSTS:153602

A008R03 (e-PCR)
- UniSTS:2060

RH37451 (e-PCR)
- UniSTS:78614

SHGC-146246 (e-PCR)
- UniSTS:172573

D6S366 (e-PCR)
- UniSTS:148254

RH65350 (e-PCR)
- UniSTS:67106

G32982 (e-PCR)
- UniSTS:117559

RH123573 (e-PCR)
- UniSTS:135993

RH123580 (e-PCR)
- UniSTS:136000

SGC34793 (e-PCR)
- UniSTS:82523

RH104070 (e-PCR)
- UniSTS:98395

SHGC-34604 (e-PCR)
- UniSTS:31068

D6S462 (e-PCR)
- UniSTS:74346

G17026 (e-PCR)
- UniSTS:17523

A009Y20 (e-PCR)
- UniSTS:35701

D6S462 (e-PCR)
- UniSTS:57726

RH16500 (e-PCR)
- UniSTS:65411

RH103117 (e-PCR)
- UniSTS:97451

G17078 (e-PCR)
- UniSTS:1457

RH119295 (e-PCR)
- UniSTS:133857

D6S1506 (e-PCR)
- UniSTS:33518

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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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)

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)
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)