PTPRQ

Chr 12q21.31

protein tyrosine phosphatase receptor type Q

MANE:: ENST00000644991.3

OMIM: 603317 ↗NCBI: 374462 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

AlphaFold predicted structure

PTPRQ · Q9UMZ3

v62025-08-01

Predicted Aligned Error matrix for PTPRQ — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

74.9/ 100

Confident

2,332 residues

Confidence breakdown

Very high(≥ 90)5%
Confident(70–90)73%
Low(50–70)13%
Very low(< 50)10%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

Monogenic hearing loss
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Osteogenesis imperfecta
Skeletal dysplasia

Disease associations (Open Targets)

hearing loss, autosomal recessive
0.72
autosomal dominant nonsyndromic hearing loss
0.63
deafness
0.60
Hearing impairment
0.40
Abnormality of the ear
0.35
Sensorineural hearing impairment
0.34
flatfoot
0.34
Loss of ambulation
0.34
Unsteady gait
0.34
Pes cavus
0.34

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Phosphatidylinositol phosphatase PTPRQ

Dephosphorylates phosphatidylinositol phosphates, such as phosphatidylinositol 3,4,5-trisphosphate (PIP3) and phosphatidylinositol 3,5-diphosphates, with preference for PIP3 (PubMed:23897475). Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring (PubMed:23897475). Has low tyrosine-protein phosphatase activity in vitro; however, the relevance of such activity in vivo is unclear (By similarity). Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by regulating the levels of PIP3 in MSCs and preadipocyte cells (PubMed:19351528). Required for hair bundle maturation, a process that enables hair cells to detect and transmit sound and balance signals effectively, therefore affecting auditory function (PubMed:20472657, PubMed:29309402). May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles (By similarity)

Curated MONDO disease pages that list PTPRQ among their top associated genes.

hearing loss, autosomal recessiveRare

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Disease associations (Open Targets)

Protein function (UniProt)

Diseases associated with PTPRQ