HomeAboutRankingsData Sources
Β© 2026 GeneE
🧬
GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ITPR2
inositol 1,4,5-trisphosphate receptor type 2
Chromosome 12 Β· 12p11.23
NCBI Gene: 3709Ensembl: ENSG00000123104.12HGNC: HGNC:6181UniProt: Q14571
125PubMed Papers
21Diseases
0Drugs
2Pathogenic Variants
FUNCTIONAL ROLE
Ion ChannelReceptorTransporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
membraneplasma membranetransmembrane transporter bindingsarcoplasmic reticulum membraneisolated anhidrosis with normal sweat glandsatrial fibrillationalcohol drinkingopen-angle glaucoma
✦AI Summary

ITPR2 encodes an inositol 1,4,5-trisphosphate-gated calcium channel that mediates calcium release from the endoplasmic reticulum (ER) to the cytoplasm, functioning as a key regulator of intracellular calcium signaling 1. The channel exists in distinct conformational states, transitioning from a 'parked' closed state to active 'drive' mode upon ligand binding, enabling calcium flux essential for cellular processes 2. ITPR2 localizes to mitochondria-associated ER membranes (MAMs) where it forms complexes with Grp75 and VDAC1, facilitating ER-mitochondrial calcium transfer critical for bioenergetics and cellular homeostasis 2. Functionally, ITPR2-mediated calcium signaling regulates astrocytic ATP release, which modulates antidepressant-like effects in depression models 3, and controls cellular senescence and aging through ER-mitochondrial contacts 1. Disease relevance includes genetic associations with congenital vertebral malformation, where ITPR2 variants show large effect sizes in spine development 4, and Kashin-Beck disease, where SNP rs11048526 increases osteoarthropathy risk 5. Clinically, ITPR2 degradation by neutrophil elastase regulates hepatocyte calcium signaling in alcohol-associated hepatitis 6, suggesting therapeutic potential for modulating this pathway in liver disease and aging-related pathologies.

Sources cited
1
ITPR2 drives cellular senescence through ER-mitochondrial calcium signaling; knockout mice show improved aging and lifespan
PMID: 33526781
2
ITPR2 assembles with Grp75 and VDAC1 at MAMs to regulate ER-mitochondrial calcium transfer and prevent cardiac hypertrophy
PMID: 40489543
3
ITPR2 is required for astrocytic ATP release, which produces antidepressant-like effects in depression models
PMID: 23644515
4
ITPR2 variants are identified as risk genes with large effect sizes in congenital vertebral malformation through burden testing
PMID: 38321032
5
ITPR2 SNP rs11048526 is significantly associated with Kashin-Beck disease risk in Tibetan populations
PMID: 31066235
6
Neutrophil elastase selectively degrades ITPR2 in hepatocytes to regulate calcium signaling in alcohol-associated hepatitis
PMID: 38916955
Disease Associationsβ“˜21
isolated anhidrosis with normal sweat glandsOpen Targets
0.54Moderate
atrial fibrillationOpen Targets
0.46Moderate
alcohol drinkingOpen Targets
0.45Moderate
open-angle glaucomaOpen Targets
0.42Moderate
crystal arthropathyOpen Targets
0.32Weak
Abnormality of refractionOpen Targets
0.30Weak
diabetes mellitusOpen Targets
0.29Weak
refractive errorOpen Targets
0.29Weak
tooth diseaseOpen Targets
0.28Weak
Kashin-Beck diseaseOpen Targets
0.28Weak
smoking initiationOpen Targets
0.27Weak
brain cancerOpen Targets
0.27Weak
subarachnoid hemorrhageOpen Targets
0.26Weak
chronic intestinal vascular insufficiencyOpen Targets
0.25Weak
clonal hematopoiesisOpen Targets
0.24Weak
poisoningOpen Targets
0.24Weak
Abruptio PlacentaeOpen Targets
0.24Weak
aortic diseaseOpen Targets
0.23Weak
pulmonary vascular congestionOpen Targets
0.23Weak
osteitis deformansOpen Targets
0.22Weak
Anhidrosis, isolated, with normal sweat glandsUniProt
Pathogenic Variants2
NM_002223.4(ITPR2):c.7391del (p.Ala2463_Ser2464insTer)Pathogenic
Familial hypercholesterolemia
β˜†β˜†β˜†β˜†2022β†’ Residue 2463
NM_002223.4(ITPR2):c.7492G>A (p.Gly2498Ser)Pathogenic
Isolated anhidrosis with normal sweat glands
β˜†β˜†β˜†β˜†2014β†’ Residue 2498
View on ClinVar β†—
Related Genes
BTKProtein interaction100%SYKProtein interaction100%PLCG2Protein interaction100%ATXN3LProtein interaction100%ATXN2Protein interaction100%VDAC1Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Bone Marrow
58%
Brain
35%
Ovary
31%
Heart
28%
Lung
27%
Gene Interaction Network
Click a node to explore
ITPR2BTKSYKPLCG2ATXN3LATXN2VDAC1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q14571
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.72LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.63 [0.55–0.72]
RankingsWhere ITPR2 stands among ~20K protein-coding genes
  • #3,768of 20,598
    Most Researched125 Β· top quartile
  • #4,287of 5,498
    Most Pathogenic Variants2
  • #5,600of 17,882
    Most Constrained (LOEUF)0.72
Genes detectedITPR2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Calcium channel ITPR2 and mitochondria-ER contacts promote cellular senescence and aging.
PMID: 33526781
Nat Commun Β· 2021
1.00
2
FMO2 Prevents Pathological Cardiac Hypertrophy by Maintaining the ER-Mitochondria Association Through Interaction With IP3R2-Grp75-VDAC1.
PMID: 40489543
Circulation Β· 2025
0.90
3
Human pegivirus alters brain and blood immune and transcriptomic profiles of patients with Parkinson's disease.
PMID: 40626361
JCI Insight Β· 2025
0.80
4
Astrocyte-derived ATP modulates depressive-like behaviors.
PMID: 23644515
Nat Med Β· 2013
0.70
5
A pleiotropic recurrent dominant
PMID: 39270020
Sci Adv Β· 2024
0.60