ITPR2 Gene - Inositol 1,4,5-Trisphosphate Receptor Type 2
Complete genetic and functional information for ITPR2, encoding a key intracellular calcium release channel.
Gene Information Card
| Symbol | ITPR2 |
|---|---|
| Full Name | inositol 1,4,5-trisphosphate receptor type 2 |
| Gene Type | gene with protein product |
| Chromosomal Location | 12p11.23 |
| NCBI Gene ID | 3709 ncbi.nlm.nih.gov/gene/3709 |
| Ensembl ID | ENSG00000123104 |
| UniProt ID | Q14571 |
| OMIM ID | 600144 |
| HGNC ID | HGNC:6181 |
| Aliases | IP3R2, CFAP48 |
Description
The ITPR2 gene encodes inositol 1,4,5-trisphosphate receptor type 2 (IP3R2), an intracellular calcium release channel localized to the endoplasmic reticulum. It mediates calcium release in response to IP3 signaling, playing a critical role in various cellular processes including proliferation, apoptosis, and metabolism. Mutations and dysregulation of ITPR2 have been implicated in several diseases, including cancer and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Spinocerebellar ataxia 29 | Missense mutations in ITPR2 impair calcium signaling in Purkinje cells, leading to neurodegeneration. | ClinVar, OMIM |
| Colorectal cancer | Altered ITPR2 expression affects calcium-dependent apoptosis and proliferation in colon epithelial cells. | COSMIC, PubMed |
| Hepatocellular carcinoma | ITPR2 overexpression promotes cell proliferation and migration via enhanced calcium signaling. | COSMIC, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.3 | Medium |
| Brain | 8.7 | Low |
| Heart | 5.2 | Low |
| Kidney | 4.1 | Low |
| Testis | 2.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.6 | Hepatocellular carcinoma cell line |
| SH-SY5Y | 8.2 | Neuroblastoma cell line |
| A549 | 3.4 | Lung carcinoma cell line |
| MCF7 | 2.1 | Breast adenocarcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.638C>T (p.Pro213Leu) | Missense | Rare | Pathogenic; associated with spinocerebellar ataxia 29 |
| c.2545A>G (p.Thr849Ala) | Missense | Rare | Uncertain significance; may affect calcium channel function |
| c.1234G>A (p.Val412Ile) | Missense | Rare | Benign; no known clinical significance |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in ITPR2 reduce calcium release, impairing cellular signaling and leading to conditions like spinocerebellar ataxia.
Gain of Function (GOF)
Gain-of-function mutations may enhance calcium release, promoting cell proliferation and contributing to tumorigenesis.
Dominant Negative (DN)
Dominant-negative mutations can interfere with the function of wild-type IP3R2, disrupting calcium signaling in a dominant manner.
View complete mutation data：
Gene Ontology (GO)
| • inositol 1 | • 4 |
| • 5-trisphosphate-sensitive calcium-release channel activity | • calcium ion binding |
| • endoplasmic reticulum membrane | • calcium ion transport |
| • response to IP3 |
Pathways
• Calcium signaling pathway
• IP3-mediated calcium release
• Apoptosis signaling
Protein Summary
The ITPR2 protein is a large transmembrane channel that releases calcium from the endoplasmic reticulum into the cytosol upon binding of inositol 1,4,5-trisphosphate (IP3). It is a tetrameric complex, each subunit containing an IP3-binding domain, a modulatory domain, and a channel-forming domain. IP3R2 is widely expressed, with high levels in the liver and brain, and plays a role in diverse processes such as cell proliferation, differentiation, and apoptosis. Dysregulation of IP3R2 has been linked to cancer and neurodegenerative diseases.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITPR2 Knockout HEK293 Cell Line | EDJ-KQ1422 | Human | 3709 | Details Get a Quote |
| ITPR2 Knockout A-549 Cell Line | EDJ-KQ20963 | Human | 3709 | Details Get a Quote |
| ITPR2 Knockout HCT 116 Cell Line | EDJ-KQ20964 | Human | 3709 | Details Get a Quote |
| ITPR2 Knockout HeLa Cell Line | EDJ-KQ20965 | Human | 3709 | Details Get a Quote |
| ITPR1 and ITPR2 and ITPR3 Knockout HEK293 Cell Line | EDC90258 | Human | 3708 and 3709 and 3710 | Details Get a Quote |
Displaying Records 1 To 5 Of 5 Records
