PCDH15 (protocadherin related 15)

2014-11-01  

Identity

HGNC
LOCATION
10q21.1
LOCUSID
ALIAS
CDHR15,DFNB23,USH1F
FUSION GENES

Other Information

Locus ID:

NCBI: 65217
MIM: 605514
HGNC: 14674
Ensembl: ENSG00000150275

Variants:

dbSNP: 65217
ClinVar: 65217
TCGA: ENSG00000150275
COSMIC: PCDH15

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000150275ENST00000320301Q96QU1
ENSG00000150275ENST00000361849A2A3E7
ENSG00000150275ENST00000373955Q96QU1
ENSG00000150275ENST00000373956E7EMG8
ENSG00000150275ENST00000373957A2A3D8
ENSG00000150275ENST00000373965A9Z1W1
ENSG00000150275ENST00000395430A2A3E6
ENSG00000150275ENST00000395432E7EMG0
ENSG00000150275ENST00000395433A2A3E8
ENSG00000150275ENST00000395438A2A3E3
ENSG00000150275ENST00000395440A2A3E5
ENSG00000150275ENST00000395442A2A3E1
ENSG00000150275ENST00000395445Q96QU1
ENSG00000150275ENST00000395446A2A3E4
ENSG00000150275ENST00000409834B7ZBT8
ENSG00000150275ENST00000414367E7EM97
ENSG00000150275ENST00000414778C9J4F3
ENSG00000150275ENST00000437009E7EM53
ENSG00000150275ENST00000448885E7EMG8
ENSG00000150275ENST00000458638A2A3D9
ENSG00000150275ENST00000495484A0A087WX70
ENSG00000150275ENST00000612394A0A087WZW3
ENSG00000150275ENST00000613346A0A087WXQ6
ENSG00000150275ENST00000613657A0A087WZN9
ENSG00000150275ENST00000614895A0A087WUA8
ENSG00000150275ENST00000615043A0A087WUC7
ENSG00000150275ENST00000616114Q96QU1
ENSG00000150275ENST00000617051A0A087X250
ENSG00000150275ENST00000617271A0A087WTR6
ENSG00000150275ENST00000618301A0A087WZN4
ENSG00000150275ENST00000621708A0A087X1T6
ENSG00000150275ENST00000622048A0A087WZ37
ENSG00000150275ENST00000642496A0A2R8YEV2
ENSG00000150275ENST00000644397A0A2R8Y6C0

Expression (GTEx)

0
1
2
3

References

Pubmed IDYearTitleCitations
371981442023The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population.1
371981442023The association of genetic polymorphisms in protocadherin 15 with sudden sensorineural hearing loss in a Chinese population.1
356373132022Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways.6
356373132022Protocadherin 15 suppresses oligodendrocyte progenitor cell proliferation and promotes motility through distinct signalling pathways.6
319379012020Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis.9
328355552020A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.0
329630952020Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception.25
319379012020Whole-exome sequencing for ocular adnexal sebaceous carcinoma suggests PCDH15 as a novel mutation associated with metastasis.9
328355552020A novel missense mutation locus of cadherin 23 and the interaction of cadherin 23 and protocadherin 15 in a patient with usher syndrome.0
329630952020Structural determinants of protocadherin-15 mechanics and function in hearing and balance perception.25
293019652018Genetics of the human face: Identification of large-effect single gene variants.30
296928702018Identification of Pathogenic Genes of Nonsyndromic Hearing Loss in Uyghur Families Using Massively Parallel DNA Sequencing Technique.3
300296242018Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment.8
300572062018Mechanotransduction by PCDH15 Relies on a Novel cis-Dimeric Architecture.29
293019652018Genetics of the human face: Identification of large-effect single gene variants.30

Citation

Dessen P

PCDH15 (protocadherin related 15)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71697/pcdh15-(protocadherin-related-15)