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

Gene ID: 60468, updated on 6-Jan-2019

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
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
BTBD25
Expression
Biased expression in lymph node (RPKM 7.1), appendix (RPKM 2.5) and 10 other tissues See more
Orthologs

Genomic context

See BACH2 in Genome Data Viewer
Location:
6q15
Exon count:
14
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 6 NC_000006.12 (89926528..90296908, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 6 NC_000006.11 (90636247..91006627, complement)

Chromosome 6 - NC_000006.12Genomic Context describing neighboring genes Neighboring gene G protein pathway suppressor 1 pseudogene Neighboring gene gap junction protein alpha 10 Neighboring gene RNA, 7SK small nuclear pseudogene 110 Neighboring gene uncharacterized LOC105377890 Neighboring gene uncharacterized LOC105377891 Neighboring gene microRNA 4464 Neighboring gene mitogen-activated protein kinase kinase kinase 7

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 FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

Process Evidence Code Pubs
import into nucleus ISS
Inferred from Sequence or Structural Similarity
more info
 
negative regulation of transcription by RNA polymerase II IEA
Inferred from Electronic Annotation
more info
 
regulation of transcription, DNA-templated IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 

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)

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_001170794.1NP_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
    Related
    ENSP00000437473.1, ENST00000537989.5
    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
    pfam00651
    Location:27133
    BTB; BTB/POZ domain
  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
    Related
    ENSP00000257749.4, ENST00000257749.8
    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
    pfam00651
    Location:27133
    BTB; BTB/POZ domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000006.12 Reference GRCh38.p12 Primary Assembly

    Range
    89926528..90296908 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017011166.2XP_016866655.1  transcription regulator protein BACH2 isoform X3

    UniProtKB/Swiss-Prot
    Q9BYV9
    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
    pfam00651
    Location:27133
    BTB; BTB/POZ domain
  2. XM_024446511.1XP_024302279.1  transcription regulator protein BACH2 isoform X1

    Conserved Domains (2) summary
    cd14719
    Location:726796
    bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
    pfam00651
    Location:113219
    BTB; BTB/POZ domain
  3. XM_024446510.1XP_024302278.1  transcription regulator protein BACH2 isoform X1

    Conserved Domains (2) summary
    cd14719
    Location:726796
    bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
    pfam00651
    Location:113219
    BTB; BTB/POZ domain
  4. XM_005248759.5XP_005248816.1  transcription regulator protein BACH2 isoform X3

    See identical proteins and their annotated locations for XP_005248816.1

    UniProtKB/Swiss-Prot
    Q9BYV9
    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
    pfam00651
    Location:27133
    BTB; BTB/POZ domain
  5. XM_005248758.5XP_005248815.1  transcription regulator protein BACH2 isoform X2

    Conserved Domains (3) summary
    smart00225
    Location:74169
    BTB; Broad-Complex, Tramtrack and Bric a brac
    cd14719
    Location:676746
    bZIP_BACH; Basic leucine zipper (bZIP) domain of BTB and CNC homolog (BACH) proteins: a DNA-binding and dimerization domain
    pfam00651
    Location:63166
    BTB; BTB/POZ domain
  6. XM_011536039.3XP_011534341.1  transcription regulator protein BACH2 isoform X3

    See identical proteins and their annotated locations for XP_011534341.1

    UniProtKB/Swiss-Prot
    Q9BYV9
    Related
    ENSP00000345642.3, ENST00000343122.7
    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
    pfam00651
    Location:27133
    BTB; BTB/POZ domain
  7. XM_024446513.1XP_024302281.1  transcription regulator protein BACH2 isoform X3

    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
    pfam00651
    Location:27133
    BTB; BTB/POZ domain
  8. XM_011536040.2XP_011534342.1  transcription regulator protein BACH2 isoform X3

    See identical proteins and their annotated locations for XP_011534342.1

    UniProtKB/Swiss-Prot
    Q9BYV9
    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
    pfam00651
    Location:27133
    BTB; BTB/POZ domain
  9. XM_017011167.2XP_016866656.1  transcription regulator protein BACH2 isoform X4

Reference GRCh38.p12 PATCHES

Genomic

  1. NW_017363815.1 Reference GRCh38.p12 PATCHES

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