PTPRQ (protein tyrosine phosphatase receptor type Q)

2016-08-01  

Identity

HGNC
LOCATION
12q21.31
LOCUSID
ALIAS
DFNA73,DFNB84,DFNB84A,PTPGMC1,R-PTP-Q
FUSION GENES

Other Information

Locus ID:

NCBI: 374462
MIM: 603317
HGNC: 9679
Ensembl: ENSG00000139304

Variants:

dbSNP: 374462
ClinVar: 374462
TCGA: ENSG00000139304
COSMIC: PTPRQ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000139304ENST00000547376F8VXI2
ENSG00000139304ENST00000547881H0YIJ5
ENSG00000139304ENST00000551042F8W122
ENSG00000139304ENST00000551573F8VW52
ENSG00000139304ENST00000616559A0A087X0B9
ENSG00000139304ENST00000644991A0A087WZU1

Expression (GTEx)

0
1
2
3
4
5

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
268510242016High PTPRQ Expression and Its Relationship to Expression of PTPRZ1 and the Presence of KRAS Mutations in Colorectal Cancer Tissues.1
193515282009Involvement of PTP-RQ in differentiation during adipogenesis of human mesenchymal stem cells.0
203464352010Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.0
204726572010Nonsense mutation of the stereociliar membrane protein gene PTPRQ in human hearing loss DFNB84.0
238974752013Structural basis for the dephosphorylating activity of PTPRQ towards phosphatidylinositide substrates.0
255579142015Identification of a novel compound heterozygous mutation in PTPRQ in a DFNB84 family with prelingual sensorineural hearing impairment.0
257885642015Novel PTPRQ mutations identified in three congenital hearing loss patients with various types of hearing loss.0
259193742015Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family.0
287140102017PTPRQ as a potential biomarker for idiopathic normal pressure hydrocephalus.0

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