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374462 PTPRQ

374462

PTPRQ

protein tyrosine phosphatase receptor type Q

protein-coding

Homo sapiens

基因描述

Type Description
Definition protein tyrosine phosphatase receptor type Q

研究结论

Date Results Publications
2020-09-26 13:04:00 First confirmatory study on as an autosomal dominant non-syndromic hearing loss gene. 31655630
2018-12-01 12:11:00 The studies findings suggest that the novel compound heterozygous mutations, c.4472C>T (p.T1491M) and c.1973T>C (p.V658A), are the cause of congenital Sensorineural Hearing Loss in a Chinese family. 29849575
2018-10-20 12:21:00 We identified a heterozygous nonsense mutation, c.6881G>A (p.Trp2294*), in the last coding exon of has been linked with recessive (DFNB84A), but not dominant deafness. protein would lack only six terminal residues and could exert a dominant-negative effect 29309402
2018-04-21 11:29:00 may be a useful biomarker for discriminating between patients with Idiopathic normal pressure hydrocephalus and Alzheimer's disease. 28714010
2016-07-16 11:26:00 Confirm contribution of PTPRZ1, and especially in CRC carcinogenesis and demonstrated that expression is correlated with KRAS mutation. 26851024

名称对应

Type IDs
Synonymous DFNA73, DFNB84, DFNB84A, PTPGMC1, R-PTP-Q
Gene
UniProtKB-ID: A0A087WZU1_HUMAN
UniprotKB: A0A087WZU1
UniParc: UPI000192953C
EMBL: AC083812, ABBA01053496, AC074031
Ensembl: ENSG00000139304
KO: hsa:374462
Nucleutide sequences
Ensembl_TRS: ENST00000644991
Protein sequencees
Ensembl_PRO: ENSP00000495607
RefSeq: NP_001138498.1, XP_016874762.1, XP_016874763.1, XP_016874764.1
Others
UniRef100: UniRef100_A0A087WZU1
UniRef90: UniRef90_Q9UMZ3
UniRef50: UniRef50_Q9UMZ3
UniGene: Hs.539284

全选

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研究热度

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