Identity
HGNC
LOCATION
12q21.31
LOCUSID
ALIAS
DFNA73,DFNB84,DFNB84A,PTPGMC1,R-PTP-Q
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 374462
MIM: 603317
HGNC: 9679
Ensembl: ENSG00000139304
Variants:
dbSNP: 374462
ClinVar: 374462
TCGA: ENSG00000139304
COSMIC: PTPRQ
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38674423 | 2024 | Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort. | 0 |
| 38674423 | 2024 | Detailed Clinical Features of PTPRQ-Associated Hearing Loss Identified in a Large Japanese Hearing Loss Cohort. | 0 |
| 37106574 | 2023 | Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient. | 2 |
| 37106574 | 2023 | Delayed progressive sensorineural hearing loss due to a novel compound heterozygous PTPRQ mutation in a Chinese patient. | 2 |
| 34374074 | 2022 | PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | 4 |
| 35546749 | 2022 | Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease. | 3 |
| 34374074 | 2022 | PNPT1, MYO15A, PTPRQ, and SLC12A2-associated genetic and phenotypic heterogeneity among hearing impaired assortative mating families in Southern India. | 4 |
| 35546749 | 2022 | Protein Tyrosine Phosphatase Receptor-type Q: Structure, Activity, and Implications in Human Disease. | 3 |
| 33035386 | 2021 | Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus. | 7 |
| 33035386 | 2021 | Protein tyrosine phosphatase receptor type Q in cerebrospinal fluid reflects ependymal cell dysfunction and is a potential biomarker for adult chronic hydrocephalus. | 7 |
| 31655630 | 2019 | First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. | 9 |
| 31655630 | 2019 | First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene. | 9 |
| 29309402 | 2018 | A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. | 15 |
| 29849575 | 2018 | Autosomal Recessive Congenital Sensorineural Hearing Loss due to a Novel Compound Heterozygous PTPRQ Mutation in a Chinese Family. | 11 |
| 29309402 | 2018 | A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73. | 15 |
Citation
Dessen P
PTPRQ (protein tyrosine phosphatase receptor type Q)
Atlas Genet Cytogenet Oncol Haematol. 2016-08-01
Online version: http://atlasgeneticsoncology.org/gene/55852/ptprq-(protein-tyrosine-phosphatase-receptor-type-q)
