ITPR1

inositol 1,4,5-trisphosphate receptor type 1

4 disorders 2 no genetic record 2 untyped 3p26.1 gene with protein product

HGNC:6180 Monarch NCBI Gene 3708 ENSG00000150995 UniProt Q14643 OMIM 147265

Previous symbols: SCA15, SCA16, SCA29. Aliases: Insp3r1, IP3R1, ACV, PPP1R94.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Autosomal Dominant Cerebellar Ataxia Type I	untyped SCA29 ITPR1 variants	mechanism: Purkinje-Cell Calcium Signaling Dysfunction subtype: SCA29 scoped to subtype: SCA29
Spinocerebellar Ataxia Type 15/16	untyped
Autosomal Dominant Cerebellar Ataxia	no genetic record	mechanism: Conventional Dominant Disease Variant
Autosomal Dominant Sensory Ataxia 1	no genetic record	mechanism: Impaired erlin1/2-RNF170-Mediated IP3 Receptor ERAD

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
spinocerebellar ataxia type 29 MONDO:0007298	AD	Definitive 2025-01-23	Autosomal Dominant Cerebellar Ataxia Type I untyped
aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795	AD	Definitive 2025-01-23	no dismech entry
aniridia-cerebellar ataxia-intellectual disability syndrome MONDO:0008795	AR	Definitive 2025-01-23	no dismech entry

Mechanism modules · computed from kb/

cerebellar_purkinje_degeneration via Autosomal Dominant Cerebellar Ataxia Type I

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.