Identity
HGNC
LOCATION
12p11.23
LOCUSID
ALIAS
ANHD,CFAP48,INSP3R2,IP3R2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3709
MIM: 600144
HGNC: 6181
Ensembl: ENSG00000123104
Variants:
dbSNP: 3709
ClinVar: 3709
TCGA: ENSG00000123104
COSMIC: ITPR2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000123104 | ENST00000242737 | Q14571 |
| ENSG00000123104 | ENST00000381340 | Q14571 |
| ENSG00000123104 | ENST00000451599 | H7C2X9 |
| ENSG00000123104 | ENST00000545235 | F5GYT5 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA447199 | Bipolar Disorder | Disease | Literature, MultilinkAnnotation | associated | 24718920 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34860335 | 2023 | Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients. | 0 |
| 36350267 | 2023 | Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population. | 1 |
| 34860335 | 2023 | Candidate Gene of NOS3, MMP3, AGT, and AGT1R and Pathway Analyses for Platelet Reactivity and Clinical Outcomes of Repeat Revascularization After First PCI in Chinese Patients. | 0 |
| 36350267 | 2023 | Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population. | 1 |
| 33526781 | 2021 | Calcium channel ITPR2 and mitochondria-ER contacts promote cellular senescence and aging. | 46 |
| 33526781 | 2021 | Calcium channel ITPR2 and mitochondria-ER contacts promote cellular senescence and aging. | 46 |
| 31979185 | 2020 | Type 3 Inositol 1,4,5-Trisphosphate Receptor is a Crucial Regulator of Calcium Dynamics Mediated by Endoplasmic Reticulum in HEK Cells. | 11 |
| 31979185 | 2020 | Type 3 Inositol 1,4,5-Trisphosphate Receptor is a Crucial Regulator of Calcium Dynamics Mediated by Endoplasmic Reticulum in HEK Cells. | 11 |
| 30244130 | 2019 | Experimental and theoretical study of IBC domain from human IP3R2; molecular cloning, bacterial expression and protein purification. | 2 |
| 31066235 | 2019 | Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. | 2 |
| 30244130 | 2019 | Experimental and theoretical study of IBC domain from human IP3R2; molecular cloning, bacterial expression and protein purification. | 2 |
| 31066235 | 2019 | Genetic variants in the ITPR2 gene are associated with Kashin-Beck Disease in Tibetan. | 2 |
| 29023819 | 2018 | Nonalcoholic fatty liver disease impairs expression of the type II inositol 1,4,5-trisphosphate receptor. | 25 |
| 29023819 | 2018 | Nonalcoholic fatty liver disease impairs expression of the type II inositol 1,4,5-trisphosphate receptor. | 25 |
| 26918600 | 2017 | Germline genetic variations in PDZD2 and ITPR2 genes are associated with clear cell renal cell carcinoma in Chinese population. | 6 |
Citation
Dessen P
ITPR2 (inositol 1,4,5-trisphosphate receptor type 2)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47218/itpr2-(inositol-1-4-5-trisphosphate-receptor-type-2)
