PTPRQ Chromosome 12
Protein tyrosine phosphatase receptor type Q
Upload your DNA to see your personal genotypes for variants in PTPRQ.
What This Gene Does
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]
Gene Info
Gene Group
"Fibronectin type III domain containing|Protein tyrosine phosphatases receptor type"
Locus Type
gene with protein product
Location
12q21.31
Ensembl
ENSG00000139304
Associated Conditions (10)
Hearing loss
autosomal dominant 73
autosomal recessive
See cases
Autosomal recessive nonsyndromic hearing loss 84A
PTPRQ-related disorder
Ear malformation
7 conditions
Monogenic hearing loss
Deafness
Key Variants
RS1555214288
Conflicting classifications of pathogenicity
Hearing loss, autosomal dominant 73, Hearing loss
Health Risk
RS181362419
Conflicting classifications of pathogenicity
Hearing loss, autosomal recessive, Hearing loss
Health Risk
RS186746372
Conflicting classifications of pathogenicity
Health Risk
RS1894506287
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS367572836
Conflicting classifications of pathogenicity
Health Risk
RS370185461
Conflicting classifications of pathogenicity
Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 84A
Health Risk
RS372908419
Conflicting classifications of pathogenicity
PTPRQ-related disorder, PTPRQ-related disorder
Health Risk
RS527967292
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
Health Risk
RS933245871
Conflicting classifications of pathogenicity
Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
Health Risk
RS1005570619
Likely pathogenic
Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
Health Risk
RS1197563846
Likely pathogenic
Hearing loss, autosomal dominant 73, Hearing loss
Health Risk
RS1283638306
Likely pathogenic
PTPRQ-related disorder, PTPRQ-related disorder
Health Risk
All Variants (35)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555214288 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, autosomal dominant 73, Hearing loss |
| RS181362419 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, autosomal recessive, Hearing loss |
| RS186746372 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1894506287 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS367572836 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS370185461 | Health Risk | Conflicting classifications of pathogenicity | Hearing loss, autosomal recessive, Autosomal recessive nonsyndromic hearing loss 84A |
| RS372908419 | Health Risk | Conflicting classifications of pathogenicity | PTPRQ-related disorder, PTPRQ-related disorder |
| RS527967292 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS933245871 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS1005570619 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS1197563846 | Health Risk | Likely pathogenic | Hearing loss, autosomal dominant 73, Hearing loss |
| RS1283638306 | Health Risk | Likely pathogenic | PTPRQ-related disorder, PTPRQ-related disorder |
| RS1310828595 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS1403376991 | Health Risk | Likely pathogenic | — |
| RS1450763362 | Health Risk | Likely pathogenic | PTPRQ-related disorder, PTPRQ-related disorder |
| RS1592582910 | Health Risk | Likely pathogenic | — |
| RS1592779077 | Health Risk | Likely pathogenic | Ear malformation, Ear malformation |
| RS2121280782 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS2121304960 | Health Risk | Likely pathogenic | Ear malformation, Ear malformation |
| RS2541600597 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS916582229 | Health Risk | Likely pathogenic | Hearing loss, autosomal dominant 73, Hearing loss |
| RS948217913 | Health Risk | Likely pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS1419144846 | Health Risk | Pathogenic | — |
| RS1445287184 | Health Risk | Pathogenic | 7 conditions, Autosomal recessive nonsyndromic hearing loss 84A, 7 conditions |
| RS183258549 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS1894570068 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS1896318374 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Monogenic hearing loss, Autosomal recessive nonsyndromic hearing loss 84A |
| RS2120650961 | Health Risk | Pathogenic | — |
| RS2121223982 | Health Risk | Pathogenic | Hearing loss, autosomal dominant 73, Hearing loss |
| RS2541594859 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS281865414 | Health Risk | Pathogenic | Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A |
| RS377572771 | Health Risk | Pathogenic | PTPRQ-related disorder, PTPRQ-related disorder |
| RS886043240 | Health Risk | Pathogenic | — |
| RS1565819402 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Hearing loss, autosomal recessive |
| RS1565855932 | Health Risk | Pathogenic/Likely pathogenic | Deafness, Hearing loss, autosomal recessive |