Aliases for PTPRQ Gene
External Ids for PTPRQ Gene
Previous HGNC Symbols for PTPRQ Gene
Previous GeneCards Identifiers for PTPRQ Gene
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]
GeneCards Summary for PTPRQ Gene
PTPRQ (Protein Tyrosine Phosphatase Receptor Type Q) is a Protein Coding gene. Diseases associated with PTPRQ include Deafness, Autosomal Recessive 84A and Deafness, Autosomal Dominant 73. Among its related pathways are PAK Pathway. Gene Ontology (GO) annotations related to this gene include phosphatase activity and protein tyrosine phosphatase activity. An important paralog of this gene is DSCAML1.
UniProtKB/Swiss-Prot Summary for PTPRQ Gene
Phosphatidylinositol phosphatase required for auditory function. May act by regulating the level of phosphatidylinositol 4,5-bisphosphate (PIP2) level in the basal region of hair bundles. Can dephosphorylate a broad range of phosphatidylinositol phosphates, including phosphatidylinositol 3,4,5-trisphosphate and most phosphatidylinositol monophosphates and diphosphates. Phosphate can be hydrolyzed from the D3 and D5 positions in the inositol ring. Has low tyrosine-protein phosphatase activity; however, the relevance of such activity in vivo is unclear. Plays an important role in adipogenesis of mesenchymal stem cells (MSCs). Regulates the phosphorylation state of AKT1 by suppressing the phosphatidylinositol 3,4,5-trisphosphate (PIP3) level in MSCs and preadipocyte cells.