ITPRID2
Inositol 1,4,5-Trisphosphate Receptor Interacting Protein Domain 2
Gene Information Card
| Symbol | ITPRID2 |
|---|---|
| Full Name | Inositol 1,4,5-Trisphosphate Receptor Interacting Protein Domain 2 |
| Gene Type | protein-coding |
| Chromosomal Location | 2q31.1 |
| NCBI Gene ID | 163351 ncbi.nlm.nih.gov/gene/163351 |
| Ensembl ID | ENSG00000162961 |
| UniProt ID | Q5VU97 |
| OMIM ID | 618822 |
| HGNC ID | 26056 |
| Aliases | C2orf74, FLJ32709 |
Description
ITPRID2 encodes a protein containing an IP3 receptor (ITPR) interacting domain, suggesting a role in calcium signaling modulation. The gene is located on chromosome 2q31.1 and is expressed in various tissues. Limited functional studies indicate potential involvement in cellular processes regulated by inositol trisphosphate receptors.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No specific disease association | Not established | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 5.2 | Medium |
| Brain | 3.8 | Low |
| Lung | 2.1 | Low |
| Liver | 1.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 4.0 | Moderate expression |
| K562 | 2.5 | Low expression |
| HeLa | 1.8 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No reported pathogenic variants | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No data
Gain of Function (GOF)
No data
Dominant Negative (DN)
No data
View complete mutation data：
Gene Ontology (GO)
| • protein binding | • calcium ion binding |
Pathways
• Inositol phosphate metabolism
• Calcium signaling pathway
Protein Summary
ITPRID2 is a 347-amino acid protein with an IP3 receptor interacting domain. It is predicted to localize to the cytoplasm and may modulate calcium release from intracellular stores. Expression is highest in testis and brain, with lower levels in other tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ITPRID2 Knockout HEK293 Cell Line | EDJ-KQ13871 | Human | 6744 | Details Get a Quote |
| ITPRID2 Knockout A-549 Cell Line | EDJ-KQ42447 | Human | 6744 | Details Get a Quote |
| ITPRID2 Knockout HCT 116 Cell Line | EDJ-KQ43716 | Human | 6744 | Details Get a Quote |
| ITPRID2 Knockout HeLa Cell Line | EDJ-KQ43717 | Human | 6744 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
