ITPR3: Inositol 1,4,5-Trisphosphate Receptor Type 3
Key calcium channel in intracellular signaling and disease
Gene Information Card
| Symbol | ITPR3 |
|---|---|
| Full Name | Inositol 1,4,5-Trisphosphate Receptor Type 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 6p21.31 |
| NCBI Gene ID | 3710 ncbi.nlm.nih.gov/gene/3710 |
| Ensembl ID | ENSG00000096433 |
| UniProt ID | Q14573 |
| OMIM ID | 147267 |
| HGNC ID | 6182 |
| Aliases | IP3R3, IP3R-3, InsP3R3 |
Description
ITPR3 encodes the inositol 1,4,5-trisphosphate receptor type 3 (IP3R3), an intracellular calcium release channel primarily localized to the endoplasmic reticulum. It mediates calcium signaling in response to IP3, playing critical roles in cell proliferation, apoptosis, and metabolism. Mutations and altered expression are linked to various cancers and neurological disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (e.g., breast, colorectal) | Altered ITPR3 expression disrupts calcium homeostasis, promoting cell survival and proliferation | PMID: 25686104; COSMIC |
| Spinocerebellar ataxia | Missense mutations impair calcium release, leading to neuronal dysfunction | PMID: 28886341; ClinVar |
| Diabetes | ITPR3 variants affect insulin secretion via calcium signaling in pancreatic beta cells | PMID: 23223017; OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Heart | 15.2 | Medium |
| Kidney | 10.1 | Medium |
| Pancreas | 18.7 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 22.4 | High expression |
| HeLa | 14.8 | Moderate expression |
| MCF7 | 9.2 | Low expression |
| HepG2 | 11.3 | Moderate expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1550G>A (p.Arg517His) | Missense | Rare | Impaired IP3 binding and calcium release |
| c.2242C>T (p.Arg748Trp) | Missense | Rare | Reduced channel activity |
| c.3610A>G (p.Asn1204Asp) | Missense | Rare | Altered gating properties |
Mutation functional classification
Loss of Function (LOF)
Missense mutations (e.g., p.Arg517His) reduce calcium release, impairing signaling.
Gain of Function (GOF)
Not well documented; overexpression in some cancers may enhance calcium flux.
Dominant Negative (DN)
Some variants may interfere with wild-type receptor assembly, reducing overall function.
View complete mutation data：
Gene Ontology (GO)
| • GO:0005216 - ion channel activity | • GO:0005515 - protein binding |
| • GO:0005783 - endoplasmic reticulum | • GO:0006874 - cellular calcium ion homeostasis |
| • GO:0015278 - inositol 1 | • 4 |
| • 5-trisphosphate-sensitive calcium-release channel activity |
Pathways
• Calcium signaling pathway (KEGG: hsa04020)
• Inositol phosphate metabolism (KEGG: hsa00562)
• Apoptosis (KEGG: hsa04210)
Protein Summary
ITPR3 encodes a 2670-amino acid protein (IP3R3) that forms tetrameric calcium channels in the endoplasmic reticulum. It contains an N-terminal IP3-binding domain, a central modulatory region, and a C-terminal channel domain. IP3R3 is ubiquitously expressed and regulates diverse cellular processes including cell cycle, apoptosis, and metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITPR3 Knockout HEK293 Cell Line | EDJ-KQ1424 | Human | 3710 | Details Get a Quote |
| ITPR3 Knockout HCT 116 Cell Line | EDJ-KQ20966 | Human | 3710 | Details Get a Quote |
| ITPR3 Knockout HeLa Cell Line | EDJ-KQ20967 | Human | 3710 | Details Get a Quote |
| ITPR3 Knockout A-549 Cell Line | EDJ-KQ19627 | Human | 3710 | Details Get a Quote |
| ITPR1 and ITPR2 and ITPR3 Knockout HEK293 Cell Line | EDC90258 | Human | 3708 and 3709 and 3710 | Details Get a Quote |
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