ITPR2 (Q14571) variants and mutations

ITPR2 (also known as Q14571) is a human protein-coding gene encoding an inositol 1,4,5-trisphosphate-gated calcium channel protein. Its annotated function is inositol 1,4,5-trisphosphate-gated calcium channel that upon inositol 1,4,5-trisphosphate binding transports calcium from the endoplasmic reticulum lumen to cytoplasm. Exists in two states; a long-lived closed state where the channel is…. It is annotated at the endoplasmic reticulum membrane. This analysis covers 2,736 ITPR2 variants and mutations. Of these, 71% have computational variant effect predictions. Disease context includes isolated anhidrosis with normal sweat glands, alcohol drinking, and atrial fibrillation. Example ITPR2 variants include M1?, T2I, and E3D.

Variant analysis overview

Gene: ITPR2
Protein: Q14571
UniProt accession: Q14571
Organism: Homo sapiens
Variants analyzed: 2736
Variant scope: all variants
Completed: 2026-09-02

Variant and mutation evidence

Variant composition: 2,540 unspecified-consequence records; 85 synonymous variants; 90 missense variants; 10 frameshift variants; 8 stop-gained variants; 3 in-frame deletions; 1 splice-region variants
Prediction scores: 1,949 variants have prediction scores (71% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: isolated anhidrosis with normal sweat glands, alcohol drinking, atrial fibrillation, open-angle glaucoma, familial hypercholesterolemia, clonal hematopoiesis, diabetes mellitus, refractive error, Abnormality of refraction, tooth disorder, crystal arthropathy, urolithiasis.

Protein structure and variant hotspots

Protein features: 6 transmembrane segments; 5 domains; 28 binding sites; 6 post-translational modification sites.
Structural context: 357 variants have structural context.
PTM context: 6 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable ITPR2 variants

Examples include M1?, T2I, E3D, K4N, S7N, S7R, L9F, Y10C. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

ITPR2 analysis run — ITPR2 (2,736 variants) — completed 2026-09-02