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GeneE
0 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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BACH2
BACH transcriptional regulator 2
Chromosome 6 Β· 6q15
NCBI Gene: 60468Ensembl: ENSG00000112182.17HGNC: HGNC:14078UniProt: Q9BYV9
119PubMed Papers
21Diseases
0Drugs
1Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
primary adaptive immune response involving T cells and B cellsnucleoplasmcytosolprotein bindingimmunodeficiency 60asthmahypothyroidisminflammatory bowel disease
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

BACH transcriptional regulator 2

⚠Limited data available β€” This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
immunodeficiency 60Open Targets
0.60Moderate
asthmaOpen Targets
0.57Moderate
hypothyroidismOpen Targets
0.56Moderate
inflammatory bowel diseaseOpen Targets
0.56Moderate
type 1 diabetes mellitusOpen Targets
0.55Moderate
skin cancerOpen Targets
0.54Moderate
basal cell carcinomaOpen Targets
0.54Moderate
skin neoplasmOpen Targets
0.54Moderate
autoimmune diseaseOpen Targets
0.53Moderate
thyroid diseaseOpen Targets
0.53Moderate
myxedemaOpen Targets
0.50Moderate
Crohn's diseaseOpen Targets
0.49Moderate
childhood onset asthmaOpen Targets
0.49Moderate
atopic eczemaOpen Targets
0.48Moderate
rheumatoid arthritisOpen Targets
0.48Moderate
VitiligoOpen Targets
0.48Moderate
systemic lupus erythematosusOpen Targets
0.48Moderate
cutaneous melanomaOpen Targets
0.48Moderate
squamous cell carcinomaOpen Targets
0.47Moderate
actinic keratosisOpen Targets
0.47Moderate
Immunodeficiency 60 and autoimmunityUniProt
Pathogenic Variants1
NM_021813.4(BACH2):c.71T>C (p.Leu24Pro)Pathogenic
Immunodeficiency 60
β˜†β˜†β˜†β˜†2021β†’ Residue 24
View on ClinVar β†—
Related Genes
MAFProtein interaction99%MAFGProtein interaction98%MAFKProtein interaction98%MAFFProtein interaction96%NCOR1Protein interaction89%NCOR2Protein interaction85%
Tissue Expression6 tissues
Bone Marrow
100%
Liver
41%
Ovary
40%
Brain
36%
Lung
33%
Heart
28%
Gene Interaction Network
Click a node to explore
BACH2MAFMAFGMAFKMAFFNCOR1NCOR2
PROTEIN STRUCTURE
Preparing viewer…
PDB3OHU Β· 2.10 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.16Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.08 [0.04–0.16]
RankingsWhere BACH2 stands among ~20K protein-coding genes
  • #3,956of 20,598
    Most Researched119 Β· top quartile
  • #4,835of 5,498
    Most Pathogenic Variants1
  • #269of 17,882
    Most Constrained (LOEUF)0.16 Β· top 5%
Genes detectedBACH2
Sources retrieved0 papers
Response timeβ€”