SH2B3 (SH2B adapter protein 3) variants and mutations

SH2B3 (also known as SH2B adapter protein 3) is a human protein-coding gene encoding a SH2B adapter protein 3 protein. It restrains cytokine and growth-factor signaling in hematopoietic cells, including JAK-STAT pathways controlling blood-cell production. Loss-of-function variants can increase blood-cell proliferation and predispose to myeloproliferative neoplasms, while common variants influence autoimmune and hematologic traits. This analysis covers 1,356 SH2B3 variants and mutations. Of these, 98% have computational variant effect predictions. Disease context includes celiac disease, type 1 diabetes mellitus, and hypertensive disorder. Example SH2B3 variants include M1V, N2K, and N2D.

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 SH2B3 variants

Examples include M1V, N2K, N2D, N2S, N2N, G3R, G3W, G3V. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.