BACH2 BTB and CNC homology 1, basic leucine zipper transcription factor 2 [Homo sapiens] - Gene

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Summary

Official Symbol: BACH2provided by HGNC
Official Full Name: BTB and CNC homology 1, basic leucine zipper transcription factor 2provided by HGNC
Primary source: HGNC:14078
Locus tag: RP11-63K6.2
See related: Ensembl:ENSG00000112182; HPRD:12012; MIM:605394; Vega:OTTHUMG00000015216
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

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Genomic context

Location :: 6q15

Sequence :: Chromosome: 6; NC_000006.11 (90636247..91006627, complement)

See BACH2 in Epigenomics, MapViewer

Chromosome 6 - NC_000006.11 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

crystal structure of the human Bach2 POZ domain is reported at 2.1 A resolution
Title: The structure of the Bach2 POZ-domain dimer reveals an intersubunit disulfide bond.
This is the first report that shows the involvement of both BCL2L1 and the transcription factor BACH2 in a chromosomal rearrangement.
Title: A BACH2-BCL2L1 fusion gene resulting from a t(6;20)(q15;q11.2) chromosomal translocation in the lymphoma cell line BLUE-1.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
Title: Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.
Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
Title: Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.
BACH2 may be partially responsible for regulation of BCL2 expression from the t(14;18)(q21;q34) translocation
Title: High levels of BACH2 associated with lower levels of BCL2 transcript abundance in t(14;18)(q21;q34) translocation positive non-Hodgkin's lymphoma.
reporter assays demonstrated that Bach2 and Bcl6 cooperate to repress Prdm1 through its intron enhancer region
Title: Regulation of the plasma cell transcription factor Blimp-1 gene by Bach2 and Bcl6.
BACH2 expression is necessary to maintain IL-2 production when NFAT1 protein is reduced, potentially impacting umbilical cord blood graft CD4(+) T-cell allogeneic responses
Title: Regulation of IL-2 expression by transcription factor BACH2 in umbilical cord blood CD4+ T cells.
Observational study of gene-disease association. (HuGE Navigator)
Title: Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.
This study demonstrates a novel role for Bach2 as a key regulator of nucleic acid-triggered antiviral responses in human cells.
Title: The role of Bach2 in nucleic acid-triggered antiviral innate immune responses.

Submit: New GeneRIF Correction See all (19)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes.

Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.

Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.

Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

Multiple common variants for celiac disease influencing immune gene expression.

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Products	Interactant	Other Gene	Source	Pubs	Description
Q9BYV9	O60675	MAFK	HPRD	PubMed
Q9BYV9	Q9HBE1	PATZ1	HPRD	PubMed
BioGRID:121913	BioGRID:107076	BCL6	BioGRID	PubMed	Affinity Capture-Western
BioGRID:121913	BioGRID:113688	MAFK	BioGRID	PubMed	Affinity Capture-MS; Affinity Capture-Western
BioGRID:121913	BioGRID:114974	NCOR2	BioGRID	PubMed	Co-localization
BioGRID:121913	BioGRID:117133	PATZ1	BioGRID	PubMed	Two-hybrid
BioGRID:121913	BioGRID:113164	UBC	BioGRID	PubMed	Reconstituted Complex

Function	Evidence Code	Pubs
DNA binding	IEA Inferred from Electronic Annotation more info
protein dimerization activity	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: transcription regulator protein BACH2

Names: transcription regulator protein BACH2; BTB and CNC homolog 2

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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)

NM_001170794.1 → NP_001164265.1 transcription regulator protein BACH2

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, ENST00000537989

Conserved Domains (2) summary

cl02518
Location:27 – 130
Blast Score: 283

BTB; BTB/POZ domain

cl02576
Location:645 – 708
Blast Score: 163

bZIP_1; bZIP transcription factor
NM_021813.2 → NP_068585.1 transcription regulator protein BACH2

Status: VALIDATED

Description

Transcript Variant: This variant (1) is the longer transcript. Variants 1 and 2 encode the same protein.

Source sequence(s)

AA885077, AB208889, AJ271878, AL353692, DB077323

Consensus CDS

CCDS5026.1

UniProtKB/Swiss-Prot

Q9BYV9

Related

ENSP00000257749, OTTHUMP00000016867, ENST00000257749, OTTHUMT00000041522

Conserved Domains (2) summary

cl02518
Location:27 – 130
Blast Score: 283

BTB; BTB/POZ domain

cl02576
Location:645 – 708
Blast Score: 163

bZIP_1; bZIP transcription factor

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000006.11 Reference GRCh37.p5 Primary Assembly

Range

90636247..91006627, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000138.1 Alternate HuRef

Range

87855580..88225476, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL117342.12 (100..97082)	None
genomic	AL121787.22	CAD92600.1
		CAI21648.1
genomic	AL121941.14	None
genomic	AL158136.8 (100..28739)	None
genomic	AL159164.14 (100..61238)	None
genomic	AL353692.14	CAI16237.1
genomic	CH471051.2	EAW48530.1
		EAW48531.1
		EAW48532.1
		EAW48533.1
		EAW48534.1
genomic	HI573894.1	CBX47436.1
mRNA	AA885077.1	None
mRNA	AB208889.1	BAD92126.1
mRNA	AF357835.1	AAK48898.1
mRNA	AJ271878.1	CAC28130.1
mRNA	AK309526.1	None
mRNA	AL512739.1	None
mRNA	BC070239.1	None
mRNA	CN261405.1	None
mRNA	DB077323.1	None
mRNA	DB240991.1	None
other-genetic	BC166613.1	AAI66613.1