PTPRQ protein tyrosine phosphatase receptor type Q

Gene ID: 374462, updated on 28-Oct-2024
Gene type: protein coding
Also known as: DFNA73; DFNB84; DFNB84A; PTPGMC1; R-PTP-Q

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Autosomal recessive nonsyndromic hearing loss 84A MedGen: C3150654OMIM: 613391GeneReviews: Not available	See labs
Hearing loss, autosomal dominant 73 MedGen: C4540024OMIM: 617663GeneReviews: Not available	See labs

Genomic context

Location:: 12q21.31

Sequence:: Chromosome: 12; NC_000012.12 (80444235..80680273)

Total number of exons:: 45

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for PTPRQ variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PTPRQ database
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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