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

Gene ID: 60468, updated on 22-Sep-2022

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. Implicated in immunodeficiency 60. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Biased expression in lymph node (RPKM 7.1), appendix (RPKM 2.5) and 10 other tissues See more
Orthologs
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Genomic context

See BACH2 in Genome Data Viewer
Location:
6q15
Exon count:
9
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 6 NC_000006.12 (89926528..90296843, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 6 NC_060930.1 (91138217..91508429, complement)
105.20220307 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 G protein pathway suppressor 1 pseudogene Neighboring gene Sharpr-MPRA regulatory region 14578 Neighboring gene gap junction protein alpha 10 Neighboring gene RN7SK pseudogene 110 Neighboring gene Sharpr-MPRA regulatory region 1684 Neighboring gene uncharacterized LOC105377890 Neighboring gene Sharpr-MPRA regulatory region 6453 Neighboring gene uncharacterized LOC124901361 Neighboring gene uncharacterized LOC105377891 Neighboring gene microRNA 4464 Neighboring gene uncharacterized LOC124901362 Neighboring gene Sharpr-MPRA regulatory region 8521

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Phenotypes

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

HIV-1 interactions

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

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Component Evidence Code Pubs
part_of RNA polymerase II transcription regulator complex IC
Inferred by Curator
more info
 
part_of RNA polymerase II transcription regulator complex IPI
Inferred from Physical Interaction
more info
PubMed 
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 IC
Inferred by Curator
more info
PubMed 

General protein information

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)

  1. NM_001170794.2NP_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
    Q9BYV9, Q9NTS5
    Related
    ENSP00000384145.3, ENST00000406998.7
    Conserved Domains (2) summary
    cd14719
    Location:640710
    bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
    cd18278
    Location:6129
    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_021813.4NP_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
    Q9BYV9, Q9NTS5
    Related
    ENSP00000257749.4, ENST00000257749.9
    Conserved Domains (2) summary
    cd14719
    Location:640710
    bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
    cd18278
    Location:6129
    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: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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)