DIP2B (Q9P265) variants and mutations

DIP2B (also known as Q9P265) is a human protein-coding gene encoding a disco-interacting protein 2 homolog B protein. It participates in neuronal and developmental regulation, with proposed roles in DNA methylation and lipid metabolism, although its molecular functions remain incompletely defined. CGG-repeat expansion and silencing at the locus cause fragile site FRA12A-associated intellectual disability. This analysis covers 1,644 DIP2B variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes Abnormality of the skeletal system, intellectual disability, FRA12A type, and hypertensive disorder. Example DIP2B variants include M1?, A2S, and A2T.

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, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable DIP2B variants

Examples include M1?, A2S, A2T, A2G, A2E, A2V, A2A, E3K. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.