PTPRQ: Protein Tyrosine Phosphatase Receptor Type Q
A key gene in hearing and balance, encoding a receptor-type phosphatase essential for hair cell function.
Gene Information Card
| Symbol | PTPRQ |
|---|---|
| Full Name | Protein Tyrosine Phosphatase Receptor Type Q |
| Gene Type | Protein coding |
| Chromosomal Location | 12q21.31 |
| NCBI Gene ID | 374462 ncbi.nlm.nih.gov/gene/374462 |
| Ensembl ID | ENSG00000139329 |
| UniProt ID | Q9UMR3 |
| OMIM ID | 603317 |
| HGNC ID | 9678 |
| Aliases | DFNB84, PTPGMC1, RP11-295G20.2 |
Description
PTPRQ encodes a receptor-type protein tyrosine phosphatase that is predominantly expressed in the inner ear, specifically in the hair cells of the cochlea and vestibule. The protein is involved in the maintenance of hair cell structure and function, particularly in the development and maintenance of the stereocilia bundle. Mutations in PTPRQ cause autosomal recessive nonsyndromic hearing loss (DFNB84) and are associated with balance disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Autosomal recessive nonsyndromic hearing loss (DFNB84) | Loss-of-function mutations in PTPRQ disrupt hair cell stereocilia development and maintenance, leading to sensorineural hearing loss. | ClinVar, OMIM |
| Vestibular dysfunction | Defective PTPRQ impairs otolith organ function, causing balance deficits in some patients. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Cochlea | High | Inner ear hair cells |
| Vestibular system | High | Utricle and saccule hair cells |
| Testis | Low | Spermatids |
| Kidney | Low | Tubular cells |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 0.5 | Low expression |
| K562 | 0.2 | Very low expression |
| Hair cell (mouse) | High | Cochlear and vestibular hair cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.349C>T (p.Arg117*) | Nonsense | Rare | Premature stop, loss of phosphatase domain |
| c.1234G>A (p.Gly412Arg) | Missense | Rare | Impaired catalytic activity |
| c.2116_2117del (p.Leu706fs) | Frameshift | Rare | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most PTPRQ mutations are loss-of-function, leading to truncated or non-functional phosphatase, causing hearing loss.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • protein tyrosine phosphatase activity | • receptor signaling protein tyrosine phosphatase activity |
| • cell adhesion | • inner ear morphogenesis |
| • stereocilium organization |
Pathways
• Protein tyrosine phosphatase signaling
• Inner ear development
Protein Summary
PTPRQ is a transmembrane receptor-type protein tyrosine phosphatase with a large extracellular domain containing fibronectin type III repeats and a cytoplasmic phosphatase domain. It is essential for the proper organization and maintenance of stereocilia bundles in inner ear hair cells. The protein dephosphorylates specific substrates to regulate actin cytoskeleton dynamics and cell adhesion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| PTPRQ Knockout HEK293 Cell Line | EDJ-KQ8098 | Human | 374462 | Details Get a Quote |
| PTPRQ Knockout HeLa Cell Line | EDJ-KQ33962 | Human | 374462 | Details Get a Quote |
| PTPRQ Knockout A-549 Cell Line | EDJ-KQ68357 | Human | 374462 | Details Get a Quote |
| PTPRQ Knockout HCT 116 Cell Line | EDJ-KQ76733 | Human | 374462 | Details Get a Quote |
