Property Summary

NCBI Gene PubMed Count 50
Grant Count 55
R01 Count 37
Funding $9,489,293.87
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 0.024
lung adenocarcinoma -1.800 0.000
pilocytic astrocytoma 2.500 0.000
lung carcinoma -2.200 0.000
non-small cell lung carcinoma -1.900 0.000

 GO Function (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.
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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
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Publication (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.
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