Property Summary

NCBI Gene PubMed Count 50
PubMed Score 69.68
PubTator Score 51.77

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (5)

Disease log2 FC p
astrocytic glioma 1.100 2.4e-02
lung adenocarcinoma -1.800 1.6e-19
pilocytic astrocytoma 2.500 1.0e-05
lung carcinoma -2.200 5.2e-14
non-small cell lung carcinoma -1.900 2.4e-35

 GO Function (1)

 CSPA Cell Line (1)

Gene RIF (37)

PMID Text
27058588 no statistically significant association between any rare, heterozygous PCDH15 point variants and schizophrenia or autism spectrum disorders was found
26279247 PCDH15 p.Asp1010Gly variant probably modified the phenotypic expression of the 7511T>C mutation in MT-TS1
26166082 PCDH15 or DFNB59 variants are associated with poor CI performance, yet children with PCDH15 or DFNB59 variants might show clinical features indistinguishable from those of other typical pediatric cochlear implant recipients.
25930172 The novel homozygous mutation in a family segregating non-syndromic hearing loss family supports previous reported observations that PCDH15 does not only causes Usher syndrome type 1F, but also DFNB23.
25462672 Genetic variations of PCDH15 and their interactions with occupational noise exposure are associated with genetic susceptibility t onoise-induced hearing loss.
25307757 PCDH15 has several alternate cytoplasmic domain exons and differentially spliced isoforms may function redundantly
24940003 Patients lacking PCDH15-CD2 isoform are profoundly deaf.
24797007 Single nucleotide polymorphisms spanning a 9-kb region centered on exon 11 of the protocadherin 15 ( PCDH15 ) gene were found to be associated with irritable bowel syndrome in Australian, United States, and Swedish populations.
24667918 Microarray analysis indicates HIV-1 Tat-induced upregulation of protocadherin-related 15 (PCDH15) in primary human brain microvascular endothelial cells
22815625 Seven different point mutations, five novel, were detected in PCDH15 gene in Spanish patients with Usher syndrome type I.
22690115 Alberta Hutterites with Usher syndrome type I do not carry the exon 10 mutation in the PCDH15 gene.
20801516 Observational study of genetic testing. (HuGE Navigator)
20628086 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20538994 a combination of PCR-based mutation screening, together with deletion and duplication analysis, is mandatory for the accurate screening of the PCDH15 gene in Usher patients.
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20201926 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20182759 Observational study of gene-disease association. (HuGE Navigator)
19913121 Observational study of gene-disease association. (HuGE Navigator)
19816713 Study suggests that PCDH15 is associated with lipid abnormalities.
19816713 Observational study of gene-disease association. (HuGE Navigator)
19240061 Observational study of gene-disease association. (HuGE Navigator)
19183343 One SNP in PCDH15 (rs7095441) and two SNPs in MYH14 (rs667907 and rs588035), resulted in significant associations in the Polish sample set and significant interactions with noise exposure level in the Swedish sample set.
19107147 missense mutations in conserved motifs of PCDH15 cause nonsyndromic hearing loss
18719945 study of PCDH15 mutations in nonsyndromic deafness DFNB23 and type 1 Usher syndrome
18519826 Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
18463160 Humans with PCDH15 (USH1F), USH2A or GPR98 (USH2C) had a similar retinal phenotype to MYO7A
17706913 Both mouse and human protocadherin 15 genes have complex genomic structures and transcription control mechanisms.
17277737 Analysis of three large deletions revealed that all six breakpoints are different. Breakpoint junction was identified in one patient and four other breakpoints were mapped to 4 kb.
16887306 characterizeation of a new allele of the protocadherin 15 gene (designatedPcdh15(av-6J); Young Pcdh15(av-6J) mice are unresponsive to auditory stimulation and show circling behavior indicative of vestibular dysfunction
16679490 Disease causing mutations were identified in 31 of the 34 families referred: 17 in MYO7A, 6 in CDH23, 6 in PCDH15, and 2 in USH1C.
16385451 Observational study of gene-disease association. (HuGE Navigator)
15660226 Observational study of genotype prevalence. (HuGE Navigator)
15537665 CDH23 and PCDH15 play an essential long-term role in maintaining the normal organization of the stereocilia bundle.
15028842 Observational study of genotype prevalence. (HuGE Navigator)
14570705 Here we report that non-syndromic recessive hearing loss (DFNB23) is caused by missense mutations of PCDH15.
12711741 A founder mutation, R245X, of the PCDH15 gene among Ashkenazi Jews is a cause of Type 1 Usher Syndrome.
11487575 Mutations cause Usher syndrome type 1F. Protocadherins are essential for maintenance of normal retinal and cochlear function.

AA Sequence

MFRQFYLWTCLASGIILGSLFEICLGQYDDDCKLARGGPPATIVAIDEESRNGTILVDNMLIKGTAGGPD      1 - 70
PTIELSLKDNVDYWVLMDPVKQMLFLNSTGRVLDRDPPMNIHSIVVQVQCINKKVGTIIYHEVRIVVRDR     71 - 140
NDNSPTFKHESYYATVNELTPVGTTIFTGFSGDNGATDIDDGPNGQIEYVIQYNPDDPTSNDTFEIPLML    141 - 210
TGNIVLRKRLNYEDKTRYFVIIQANDRAQNLNERRTTTTTLTVDVLDGDDLGPMFLPCVLVPNTRDCRPL    211 - 280
TYQAAIPELRTPEELNPIIVTPPIQAIDQDRNIQPPSDRPGILYSILVGTPEDYPRFFHMHPRTAELSLL    281 - 350
EPVNRDFHQKFDLVIKAEQDNGHPLPAFAGLHIEILDENNQSPYFTMPSYQGYILESAPVGATISDSLNL    351 - 420
TSPLRIVALDKDIEDTKDPELHLFLNDYTSVFTVTQTGITRYLTLLQPVDREEQQTYTFSITAFDGVQES    421 - 490
EPVIVNIQVMDANDNTPTFPEISYDVYVYTDMRPGDSVIQLTAVDADEGSNGEITYEILVGAQGDFIINK    491 - 560
TTGLITIAPGVEMIVGRTYALTVQAADNAPPAERRNSICTVYIEVLPPNNQSPPRFPQLMYSLEISEAMR    561 - 630
VGAVLLNLQATDREGDSITYAIENGDPQRVFNLSETTGILTLGKALDRESTDRYILIITASDGRPDGTST    631 - 700
ATVNIVVTDVNDNAPVFDPYLPRNLSVVEEEANAFVGQVKATDPDAGINGQVHYSLGNFNNLFRITSNGS    701 - 770
IYTAVKLNREVRDYYELVVVATDGAVHPRHSTLTLAIKVLDIDDNSPVFTNSTYTVLVEENLPAGTTILQ    771 - 840
IEAKDVDLGANVSYRIRSPEVKHFFALHPFTGELSLLRSLDYEAFPDQEASITFLVEAFDIYGTMPPGIA    841 - 910
TVTVIVKDMNDYPPVFSKRIYKGMVAPDAVKGTPITTVYAEDADPPGLPASRVRYRVDDVQFPYPASIFE    911 - 980
VEEDSGRVITRVNLNEEPTTIFKLVVVAFDDGEPVMSSSATVKILVLHPGEIPRFTQEEYRPPPVSELAT    981 - 1050
KGTMVGVISAAAINQSIVYSIVSGNEEDTFGINNITGVIYVNGPLDYETRTSYVLRVQADSLEVVLANLR   1051 - 1120
VPSKSNTAKVYIEIQDENNHPPVFQKKFYIGGVSEDARMFTSVLRVKATDKDTGNYSVMAYRLIIPPIKE   1121 - 1190
GKEGFVVETYTGLIKTAMLFHNMRRSYFKFQVIATDDYGKGLSGKADVLVSVVNQLDMQVIVSNVPPTLV   1191 - 1260
EKKIEDLTEILDRYVQEQIPGAKVVVESIGARRHGDAFSLEDYTKCDLTVYAIDPQTNRAIDRNELFKFL   1261 - 1330
DGKLLDINKDFQPYYGEGGRILEIRTPEAVTSIKKRGESLGYTEGALLALAFIIILCCIPAILVVLVSYR   1331 - 1400
QFKVRQAECTKTARIQAALPAAKPAVPAPAPVAAPPPPPPPPPGAHLYEELGDSSILFLLYHFQQSRGNN   1401 - 1470
SVSEDRKHQQVVMPFSSNTIEAHKSAHVDGSLKSNKLKSARKFTFLSDEDDLSAHNPLYKENISQVSTNS   1471 - 1540
DISQRTDFVDPFSPKIQAKSKSLRGPREKIQRLWSQSVSLPRRLMRKVPNRPEIIDLQQWQGTRQKAENE   1541 - 1610
NTGICTNKRGSSNPLLTTEEANLTEKEEIRQGETLMIEGTEQLKSLSSDSSFCFPRPHFSFSTLPTVSRT   1611 - 1680
VELKSEPNVISSPAECSLELSPSRPCVLHSSLSRRETPICMLPIETERNIFENFAHPPNISPSACPLPPP   1681 - 1750
PPISPPSPPPAPAPLAPPPDISPFSLFCPPPSPPSIPLPLPPPTFFPLSVSTSGPPTPPLLPPFPTPLPP   1751 - 1820
PPPSIPCPPPPSASFLSTECVCITGVKCTTNLMPAEKIKSSMTQLSTTTVCKTDPQREPKGILRHVKNLA   1821 - 1890
ELEKSVANMYSQIEKNYLRTNVSELQTMCPSEVTNMEITSEQNKGSLNNIVEGTEKQSHSQSTSL        1891 - 1955
//

Text Mined References (50)

PMID Year Title
27058588 2016 Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders.
26279247 2015 Mutation in PCDH15 may modify the phenotypic expression of the 7511T>C mutation in MT-TS1 in a Chinese Han family with maternally inherited nonsyndromic hearing loss.
26166082 2015 Identifying Children With Poor Cochlear Implantation Outcomes Using Massively Parallel Sequencing.
25930172 2015 Novel mutation located in EC7 domain of protocadherin-15 uncovered by targeted massively parallel sequencing in a family segregating non-syndromic deafness DFNB23.
25462672 2014 Genetic variations in protocadherin 15 and their interactions with noise exposure associated with noise-induced hearing loss in Chinese population.
25307757 2014 Truncating variants in the majority of the cytoplasmic domain of PCDH15 are unlikely to cause Usher syndrome 1F.
24940003 2014 The CD2 isoform of protocadherin-15 is an essential component of the tip-link complex in mature auditory hair cells.
24797007 2014 Genome-wide association study identifies two novel genomic regions in irritable bowel syndrome.
24618850 2014 Massively parallel DNA sequencing facilitates diagnosis of patients with Usher syndrome type 1.
24025145 2013 A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients.
23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
22815625 2012 Mutation screening of the PCDH15 gene in Spanish patients with Usher syndrome type I.
22690115 2012 Evidence of genetic heterogeneity in Alberta Hutterites with Usher syndrome type I.
22542470 2012 Genome-wide association study of antibody response to smallpox vaccine.
22424883 2012 Genome-wide association study of lung function decline in adults with and without asthma.
20966902 2011 Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women.
20801516 2011 Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip.
20628086 2010 Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
20538994 2010 Identification of large rearrangements of the PCDH15 gene by combined MLPA and a CGH: large duplications are responsible for Usher syndrome.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20201926 2010 Human variation in alcohol response is influenced by variation in neuronal signaling genes.
20182759 2010 Fine mapping of the chromosome 10q11-q21 linkage region in Alzheimer's disease cases and controls.
19913121 2009 Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
19816713 2010 A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia.
19240061 2009 Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.
19183343 2009 Candidate gene association study for noise-induced hearing loss in two independent noise-exposed populations.
19107147 2009 Profound, prelingual nonsyndromic deafness maps to chromosome 10q21 and is caused by a novel missense mutation in the Usher syndrome type IF gene PCDH15.
18719945 2008 Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome.
18519826 2008 Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
18484607 2008 UMD-USHbases: a comprehensive set of databases to record and analyse pathogenic mutations and unclassified variants in seven Usher syndrome causing genes.
18463160 2008 Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17903293 2007 Genome-wide association with select biomarker traits in the Framingham Heart Study.
17706913 2007 Promoter, alternative splice forms, and genomic structure of protocadherin 15.
17277737 2007 Large genomic rearrangements within the PCDH15 gene are a significant cause of USH1F syndrome.
16887306 2006 A new spontaneous mutation in the mouse protocadherin 15 gene.
16807332 2006 The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
16679490 2006 Survey of the frequency of USH1 gene mutations in a cohort of Usher patients shows the importance of cadherin 23 and protocadherin 15 genes and establishes a detection rate of above 90%.
16385451 2006 A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
16369489 2006 Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas.
15660226 2005 Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
15537665 2005 Digenic inheritance of deafness caused by mutations in genes encoding cadherin 23 and protocadherin 15 in mice and humans.
15164054 2004 The DNA sequence and comparative analysis of human chromosome 10.
15028842 2004 The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa.
14570705 2003 PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.
12711741 2003 A mutation of PCDH15 among Ashkenazi Jews with the type 1 Usher syndrome.
11487575 2001 Mutations in the novel protocadherin PCDH15 cause Usher syndrome type 1F.
11398101 2001 Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F.
11138007 2001 The mouse Ames waltzer hearing-loss mutant is caused by mutation of Pcdh15, a novel protocadherin gene.