PIRT Gene (Phosphoinositide-Interacting Regulator of Transient Receptor Potential Channels)
Comprehensive genomic and functional analysis of PIRT, a regulator of TRP channels involved in sensory perception and cancer.
Gene Information Card
| Symbol | PIRT |
|---|---|
| Full Name | Phosphoinositide-Interacting Regulator of Transient Receptor Potential Channels |
| Gene Type | protein-coding |
| Chromosomal Location | 17q12 |
| NCBI Gene ID | 644168 ncbi.nlm.nih.gov/gene/644168 |
| Ensembl ID | ENSG00000214595 |
| UniProt ID | Q6ZVN8 |
| OMIM ID | 617637 |
| HGNC ID | 33738 |
| Aliases | FLJ39660, MGC138290 |
Description
PIRT (Phosphoinositide-Interacting Regulator of Transient Receptor Potential Channels) is a protein-coding gene that encodes a membrane-associated protein. It functions as a regulator of transient receptor potential (TRP) channels, particularly TRPV1 and TRPM8, by binding to phosphoinositides. PIRT is involved in sensory transduction, including pain and temperature perception, and has been implicated in cancer progression through modulation of calcium signaling and cell proliferation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | PIRT overexpression enhances TRPV1/TRPM8 signaling, promoting calcium influx and cell proliferation in certain cancers. | PMID: 25605792; COSMIC database |
| Pain disorders | Dysregulation of PIRT alters TRPV1 sensitivity, contributing to chronic pain conditions. | PMID: 25605792; NCBI GeneRIF |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 15.2 | Medium |
| Brain | 8.7 | Low |
| Lung | 6.1 | Low |
| Kidney | 4.3 | Low |
| Heart | 2.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 12.4 | High expression in transfected cells |
| SH-SY5Y | 8.1 | Moderate expression |
| A549 | 5.3 | Low expression |
| MCF7 | 3.9 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | missense | <0.01% | Potential loss of start codon; functional impact unknown |
| c.100C>T (p.Arg34Trp) | missense | <0.01% | May alter phosphoinositide binding; not validated |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in ClinVar or COSMIC.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Transient Receptor Potential (TRP) channel regulation
• Phosphoinositide signaling
Protein Summary
The PIRT protein is a small, membrane-associated protein that contains a phosphoinositide-binding domain. It interacts with TRPV1 and TRPM8 channels, modulating their activity in response to phosphoinositide levels. PIRT is expressed in sensory neurons and various tissues, where it influences calcium signaling, cell growth, and sensory perception. Its dysregulation is linked to cancer and pain disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PIRT Knockout HEK293 Cell Line | EDJ-KQ14771 | Human | 644139 | Details Get a Quote |
| PIRT Knockout HeLa Cell Line | EDJ-KQ60565 | Human | 644139 | Details Get a Quote |
| PIRT Knockout A-549 Cell Line | EDJ-KQ69035 | Human | 644139 | Details Get a Quote |
| PIRT Knockout HCT 116 Cell Line | EDJ-KQ77391 | Human | 644139 | Details Get a Quote |
