BACH2 (Q9BYV9) variants and mutations

BACH2 (also known as Q9BYV9) is a human protein-coding gene encoding a transcription regulator protein. It controls transcriptional programs that balance lymphocyte differentiation, immune tolerance, and effector-cell development. Haploinsufficiency can cause immunodeficiency with autoimmunity, and common variation influences susceptibility to several autoimmune diseases. This analysis covers 1,427 BACH2 variants and mutations. Of these, 69% have computational variant effect predictions. Disease context includes immunodeficiency 60, asthma, and inflammatory bowel disease. Example BACH2 variants include D4E, D4G, and D4V.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable BACH2 variants

Examples include D4E, D4G, D4V, D4Y, E5K, K6N, P7S, D8N. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.