PTPRQ Gene Summary [Human]
This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. [provided by RefSeq, Mar 2014]
Details
| Type | Processed Transcript |
| Official Symbol | PTPRQ |
| Official Name | protein tyrosine phosphatase receptor type Q [Source:HGNC Symbol;Acc:HGNC:9679] |
| Ensembl ID | ENSG00000139304 |
| Bio databases IDs | |
| Aliases | protein tyrosine phosphatase receptor type Q, phosphatidylinositol phosphatase PTPRQ |
| Synonyms | DFNA73, DFNB84, DFNB84A, LOC100129165, LOC105378254, protein tyrosine phosphatase receptor type Q, protein tyrosine phosphatase, receptor type, Q, PTPGMC1, PTP-I32039, rPTP-GMC1, R-PTP-Q |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human PTPRQ often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Protein tyrosine phosphatase, catalytic domain, undefined specificity
- TM proximal of protein tyrosine phosphatase, receptor type J
- Protein-tyrosine phosphatase
- Uroplakin IIIb, IIIa and II
- catalytic domain
- FN3
- Protein tyrosine phosphatase, catalytic domain
- Purple acid Phosphatase, N-terminal domain
- Fibronectin type 3 domain
- PTP_DSP_cys
- protein binding
- Protein tyrosine phosphatase, catalytic domain motif
Pathways
Biological processes and signaling networks where the PTPRQ gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- autosomal recessive deafness
- autosomal recessive deafness type 84
- autosomal recessive nonsyndromic postlingual hearing loss
- autosomal dominant deafness type 73
- hereditary age-related sensorineural hearing loss
- sporadic age-related sensorineural hearing loss
- absent pinna reflex
- non-insulin-dependent diabetes mellitus
- hearing loss
- ear malformation
regulates
- phosphatidylinositol-3,4,5-triphosphate
- phosphtidylinositol 5-phosphate
- phosphatidylinositol 3,4-bisphosphate
- phosphatidylinositol 3,5-bisphosphate
- phosphatidylinositol 4-phosphate
- phosphatidylinositol-3-phosphate
- phosphatidylinositol 4,5-bisphosphate
role in cell
- number
- differentiation
- apoptosis
- proliferation
- elongation
- elongation in
- length
- abnormal morphology
- degeneration
- fusion
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Extracellular Space
- stereocilia
- apical membrane
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PTPRQ gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of fat cell differentiation
Cellular Component
Where in the cell the gene product is active
- basal plasma membrane
- receptor complex
- apical plasma membrane
Molecular Function
What the gene product does at the molecular level
- protein tyrosine phosphatase activity