• 30
    Haplo
    Score
  • -5
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
PTPRQ (HGNC:9679) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
protein tyrosine phosphatase receptor type Q
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
DFNB84
Alias symbols
No aliases found
%HI
43.92(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.7(Read more about gnomAD LOEUF score)
Cytoband
12q21.31
Genomic Coordinates
GRCh37/hg19: chr12:80838015-81074052 NCBI Ensembl UCSC
GRCh38/hg38: chr12:80444235-80680273 NCBI Ensembl UCSC
MANE Select Transcript
NM_001145026.2 ENST00000644991.3 (Read more about MANE Select)
Function
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; h... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-30944
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Triplosensitivity:
Not Yet Evaluated
Last Evaluated:
08/22/2016

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
  • autosomal recessive nonsyndromic hearing loss 84A Monarch
HI Evidence Comments:
Variants in PTPRQ have been reported in association with autosomal recessive nonsyndromic hearing loss (ARNSHL). Furthermore, the overall evidence that PTPRQ, when altered, causes ARNSHL has been expert reviewed by the ClinGen Hearing Loss Working Group and classified as DEFINITIVE

Triplosensitivity (TS) Score Details

TS Evidence Strength:
Not Yet Evaluated (Disclaimer)

Genomic View

Select assembly: (NC_000012.11) (NC_000012.12)