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PCDH15 Gene

protein-coding   GIFtS: 58
GCID: GC10M055473

Protocadherin-Related 15

(Previous names: deafness, autosomal recessive 23, protocadherin 15)
(Previous symbols: USH1F, DFNB23)
  See PCDH15-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Protocadherin-Related 151 2     Deafness, Autosomal Recessive 231
USH1F1 2 3 5     Protocadherin 151
DFNB231 2 5     CDHR152
Cadherin-Related Family Member 151 2     protocadherin-152

External Ids:    HGNC: 146741   Entrez Gene: 652172   Ensembl: ENSG000001502757   OMIM: 6055145   UniProtKB: Q96QU13   

Export aliases for PCDH15 gene to outside databases

Previous GC identifers: GC10M054397 GC10M054586 GC10M054925 GC10M055250 GC10M049544


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PCDH15 Gene:
This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate
calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear
function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative
splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced
transcripts are inferred to occur in human, and additional variants are likely to occur. (provided by RefSeq, Dec
2008)

GeneCards Summary for PCDH15 Gene:
PCDH15 (protocadherin-related 15) is a protein-coding gene. Diseases associated with PCDH15 include deafness, autosomal recessive 23, and dfnb23 nonsyndromic hearing loss and deafness. GO annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot: PCD15_HUMAN, Q96QU1
Function: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear
function

Gene Wiki entry for PCDH15 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000010.10  NT_030059.14  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PCDH15 gene promoter:
         C/EBPbeta   AML1a   FOXD3   Evi-1   GATA-1   PPAR-gamma1   IRF-2   POU2F1   POU2F1a   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPCDH15 promoter sequence
   Search Chromatin IP Primers for PCDH15

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PCDH15


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 10q21.1   Ensembl cytogenetic band:  10q21.1   HGNC cytogenetic band: 10q21.1

PCDH15 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PCDH15 gene location

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M055473:  view genomic region     (about GC identifiers)

Start:
55,562,531 bp from pter      End:
57,387,702 bp from pter
Size:
1,825,172 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: PCD15_HUMAN, Q96QU1 (See protein sequence)
Recommended Name: Protocadherin-15 precursor  
Size: 1955 amino acids; 216069 Da
Subunit: Interacts with MYO7A. antiparallel heterodimer with CDH23 (By similarity). Interacts with USH1G; this
interaction may recruit USH1G to the plasma membrane (By similarity). Interacts with LHFPL5/TMHS; this
interaction is required for efficient localization to hair bundles (By similarity)
Secondary accessions: A6NL19 C6ZEF5 C6ZEF6 C6ZEF7 Q5VY38 Q5VY39 Q6TRH8 Q8NDB9 Q96QT8
Alternative splicing: 6 isoforms:  Q96QU1-1   Q96QU1-2   Q96QU1-3   Q96QU1-4   Q96QU1-5   Q96QU1-6   (Ref.5 (CAD38850) sequence differs from that shown at position 957 due to erroneous termination)

Explore the universe of human proteins at neXtProt for PCDH15: NX_Q96QU1

Explore proteomics data for PCDH15 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn52, Asn97, Asn201, Asn419, Asn559, Asn662, Asn724, Asn768, Asn821, Asn851,
                                 Asn1064, Asn1084, Asn1175
  • Modification sites at PhosphoSitePlus

  • See PCDH15 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (12 alternative transcripts): 
    NP_001136235.1  NP_001136236.1  NP_001136237.1  NP_001136238.1  NP_001136239.1  NP_001136240.1  NP_001136241.1  NP_001136242.1  
    NP_001136243.1  NP_001136244.1  NP_001136245.1  NP_149045.3  

    ENSEMBL proteins: 
     ENSP00000363076   ENSP00000378826   ENSP00000386693   ENSP00000412531   ENSP00000378832  
     ENSP00000378833   ENSP00000378829   ENSP00000378827   ENSP00000354950   ENSP00000378821  
     ENSP00000363068   ENSP00000322604   ENSP00000378818   ENSP00000412320   ENSP00000363067  
     ENSP00000363066   ENSP00000394465   ENSP00000410304   ENSP00000378820   ENSP00000412628  

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    CDHR: Cadherins / Cadherin-related

    3 InterPro protein domains:
     IPR015919 Cadherin-like
     IPR020894 Cadherin_CS
     IPR002126 Cadherin

    Graphical View of Domain Structure for InterPro Entry Q96QU1

    ProtoNet protein and cluster: Q96QU1

    1 Blocks protein domain: IPB002126 Cadherin

    UniProtKB/Swiss-Prot: PCD15_HUMAN, Q96QU1
    Domain: Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with CDH23 (By similarity)
    Domain: Three calcium ions are usually bound at the interface of each cadherin domain and rigidify the
    connections, imparting a strong curvature to the full-length ectodomain (By similarity)
    Similarity: Contains 11 cadherin domains


    Find genes that share domains with PCDH15           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PCD15_HUMAN, Q96QU1
    Function: Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear
    function

         Gene Ontology (GO): 2 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005509calcium ion binding IEA--
    GO:0005515protein binding ----
         
    Find genes that share ontologies with PCDH15           About GenesLikeMe


    Phenotypes:
         6 MGI mutant phenotypes (inferred from 10 alleles(MGI details for Pcdh15):
     behavior/neurological  growth/size/body  hearing/vestibular/ear  muscle  nervous system 
     vision/eye 

    Find genes that share phenotypes with PCDH15           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for PCDH15

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PCD15_HUMAN, Q96QU1: Cell membrane; Single-pass type I membrane protein (By similarity). Note=Efficient
    localization to the plasma membrane requires the presence of LHFPL5 (By similarity)
    PCD15_HUMAN, Q96QU1: Isoform 3: Secreted
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    extracellular5
    plasma membrane5
    cytoskeleton1
    endoplasmic reticulum1
    peroxisome1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001750photoreceptor outer segment IDA14570705
    GO:0005576extracellular region IEA--
    GO:0005615extracellular space IDA16369489
    GO:0005737cytoplasm ----
    GO:0005886plasma membrane IEA--

    Find genes that share ontologies with PCDH15           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PCDH15
    Interactions:

        Search GeneGlobe Interaction Network for PCDH15

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for PCDH15 (Q96QU12, 3 ENSP000003549504) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    USH1CQ9Y6N93, ENSP000000052264I2D: score=1 STRING: ENSP00000005226
    NFASCENSP000003531544STRING: ENSP00000353154
    PIK3CDENSP000003665634STRING: ENSP00000366563
    ACOT7ENSP000003670864STRING: ENSP00000367086
    ALDH1L1ENSP000003770834STRING: ENSP00000377083
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 19):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001964startle response ----
    GO:0002009morphogenesis of an epithelium ----
    GO:0007015actin filament organization ----
    GO:0007156homophilic cell adhesion IEA--
    GO:0007601visual perception ----

    Find genes that share ontologies with PCDH15           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PCDH15 (PCD15)

    1 HMDB Compound for PCDH15    About this table
    CompoundSynonyms CAS #PubMed Ids
    CalciumCa (see all 2)7440-70-2--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
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    REFSEQ mRNAs for PCDH15 gene (12 alternative transcripts): 
    NM_001142763.1  NM_001142764.1  NM_001142765.1  NM_001142766.1  NM_001142767.1  NM_001142768.1  NM_001142769.1  NM_001142770.1  
    NM_001142771.1  NM_001142772.1  NM_001142773.1  NM_033056.3  

    Unigene Cluster for PCDH15:

    Protocadherin-related 15
    Hs.280209  [show with all ESTs]
    Unigene Representative Sequence: NM_001142771
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 23):
    ENST00000373965(uc010qhq.2 uc010qhr.2) ENST00000495484 ENST00000476074
    ENST00000395438(uc021pqv.1 uc021pqx.1) ENST00000409834 ENST00000414367
    ENST00000395445(uc021pqw.1 uc010qht.2) ENST00000395446 ENST00000395442
    ENST00000395440 ENST00000361849(uc021pqy.1 uc010qhv.1 uc010qhx.1 uc010qhy.1 uc010qhz.1 uc010qia.1 uc001jju.1)
    ENST00000395433(uc021pqz.1 uc010qib.1) ENST00000373957(uc001jjv.1)
    ENST00000463095 ENST00000320301 ENST00000395430 ENST00000448885 ENST00000373956

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    Additional mRNA sequence: 

    AK126923.1 AK311240.1 AL834134.1 AY029205.1 AY029237.1 AY388963.1 EU718480.1 EU718481.1 
    EU718482.1 

    3 DOTS entries:

    DT.75148058  DT.121230840  DT.97803101 

    12 AceView cDNA sequences:

    AY029237 BP348891 NM_033056 AW005431 AK126923 AL834134 AY388963 AY029205 
    AW449267 BP362105 BG004571 BF924020 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PCDH15    About this scheme

    ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^ 23 ^ 24 ^ 25 ^ 26 ^
    SP1:                                                                                                                                                        -   
    SP2:              -                                                                                                                                             
    SP3:                                                                                                                                                            

    ExUns: 27 ^ 28 ^ 29 ^ 30 ^ 31 ^ 32
    SP1:  -                                 
    SP2:                                    
    SP3:                                    


    ECgene alternative splicing isoforms for PCDH15

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PCDH15 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TATGGAAGAT
    PCDH15 Expression
    About this image

    PCDH15 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PCDH15 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.280209

    UniProtKB/Swiss-Prot: PCD15_HUMAN, Q96QU1
    Tissue specificity: Expressed in brain, lung, kidney, spleen and testis. Found also in the inner and outer
    synaptic layers, and the nerve fiber layer in adult and fetal retinas. Found in the supporting cells, outer
    sulcus cells and spiral ganglion of fetal cochlea. Expressed in cytotoxic tumor-derived T- and NK-cell lines as
    well as biopsies of nasal NK/T-cell lymphomas. Not detected in normal or in vitro activated peripheral blood
    cells, CD4 or CD8 lymphocytes or NK cells. Isoform 3 is expressed in brain, heart, cerebellum and kidney. CD1
    isoforms, such as isoform 1, have a limited pattern of expression and is detected in testis, retina and cochlea.
    CD2 isoforms, such as isoforms 4 and 5, are expressed in heart, kidney, thymus, spleen, testis, retina and
    cochlea. CD3 isoforms, such as isoform 6, are widely expressed

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    In Situ
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    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PCDH15 gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pcdh151 , 5 protocadherin 151, 5 82.45(n)1
    90.37(a)1
      10 (37.43 cM)5
    119941  NM_001142742.11  NP_001136214.11 
     730993425 
    chicken
    (Gallus gallus)
    Aves PCDH151 protocadherin-related 15 74.72(n)
    78.99(a)
      423644  NM_001044654.1  NP_001038119.1 
    lizard
    (Anolis carolinensis)
    Reptilia PCDH156
    protocadherin-related 15
    77(a)
    1 ↔ 1
    GL343268.1(446291-918818)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia pcdh151 protocadherin-related 15 69.75(n)
    72.73(a)
      100494111  XM_004916460.1  XP_004916517.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pcdh15b1 protocadherin 15b 65.34(n)
    67.2(a)
      503521  NM_001012486.1  NP_001012504.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Cad99C1 Cadherin 99C 42.17(n)
    31.77(a)
      43528  NM_001202382.1  NP_001189311.1 
    worm
    (Caenorhabditis elegans)
    Secernentea cdh-51 cdh-5 42.04(n)
    29.14(a)
      177671  NM_069086.3  NP_501487.1 


    ENSEMBL Gene Tree for PCDH15 (if available)
    TreeFam Gene Tree for PCDH15 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PCDH15 gene
    DCHS12  DCHS22  CELSR32  CELSR12  FAT22  FAT42  FAT32  CELSR22  
    FAT12  
    3 SIMAP similar genes for PCDH15 using alignment to 19 protein entries:     PCD15_HUMAN (see all proteins):
    FAT3    ME5    DSC2

    Find genes that share paralogs with PCDH15           About GenesLikeMe



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PCDH15 (see all 23902)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs617313871,2,,4
    C,FUsher syndrome 1F (USH1F)4 non-pathogenic155970639(+) CGGCTG/TAAAGT 20 K Q mis15Minor allele frequency- T:0.01NS WA NA EU 6071
    VAR_0692974
    Usher syndrome 1D/F (USH1DF)4--see VAR_0692972 D G mis40--------
    VAR_0240354
    Deafness, autosomal recessive, 23 (DFNB23)4--see VAR_0240352 R G mis40--------
    VAR_0240364
    Deafness, autosomal recessive, 23 (DFNB23)4--see VAR_0240362 G D mis40--------
    rs798541481,2
    C,Fnon-pathogenic155961167(-) GTCAAA/GTAGAA 16 I V mis13Minor allele frequency- G:0.05CSA WA NA 4664
    rs618623901,2
    C,Fnon-pathogenic155961515(+) AAGAGG/AGATAG 16 /P /S mis13Minor allele frequency- A:0.01NA 2896
    rs1110333621,2
    C,Fnon-pathogenic155962024(-) TACAAA/GCAAAA 16 N S mis12Minor allele frequency- G:0.01NA EU 5871
    rs108251141,2
    C,F,A,Hnon-pathogenic155962293(+) TAAAGG/TGGATT 16 P syn126Minor allele frequency- T:0.17NA NS EA CSA WA EU 8755
    rs1110334961,2
    C,Fnon-pathogenic155996255(-) ATAGAA/TGATCT 20 E D mis12Minor allele frequency- T:0.02CSA NA 4414
    rs21357201,2,,4
    C,F,O,A,Hnon-pathogenic156134747(-) TAAACA/GAATAT 20 Q R mis127Minor allele frequency- N:0.00EA NA NS WA CSA EU 8497

    HapMap Linkage Disequilibrium report for PCDH15 (55562531 - 55812531 bp, first 250kb of PCDH15)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PCDH15 (see all 106):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv14e180CNV Deletion20482838
    esv2662719CNV Deletion23128226
    esv2737006CNV Deletion23290073
    esv2661074CNV Deletion23128226
    esv2737040CNV Deletion23290073
    esv2321279CNV Deletion18987734
    esv2737095CNV Deletion23290073
    esv2034822CNV Deletion18987734
    esv2168362CNV Deletion18987734
    esv2676429CNV Deletion23128226

    Human Gene Mutation Database (HGMD): PCDH15
    Locus Specific Mutation Databases (LSDB): PCDH15

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PCDH15
    DNA2.0 Custom Variant and Variant Library Synthesis for PCDH15

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 605514   
    OMIM disorders: 602083  609533  601067  
    UniProtKB/Swiss-Prot: PCD15_HUMAN, Q96QU1
  • Usher syndrome 1F (USH1F) [MIM:602083]: USH is a genetically heterogeneous condition characterized by the
    association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and
    vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome
    type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function
    and prepubertal onset of progressive retinitis pigmentosa leading to blindness. Note=The disease is caused by
    mutations affecting the gene represented in this entry
  • Usher syndrome 1D/F (USH1DF) [MIM:601067]: USH1DF patients are heterozygous for mutations in CDH23 and
    PCDH15, indicating a digenic inheritance pattern. Note=The disease is caused by mutations affecting distinct
    genetic loci, including the gene represented in this entry
  • Deafness, autosomal recessive, 23 (DFNB23) [MIM:609533]: A form of non-syndromic sensorineural hearing
    loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to
    the brain, or the area of the brain that receives sound information. Note=The disease is caused by mutations
    affecting the gene represented in this entry

  • 10 diseases for PCDH15:    
    About MalaCards
    deafness, autosomal recessive 23    dfnb23 nonsyndromic hearing loss and deafness    usher syndrome, type 1f    usher syndrome, type 1d/f digenic
    usher syndrome, type 1d    usher syndrome type 1g    dfnb1    usher syndrome
    usher syndrome type i    deafness, autosomal recessive 76

    3 diseases from the University of Copenhagen DISEASES database for PCDH15:
    Usher syndrome     Retinitis pigmentosa     Nonsyndromic deafness

    Find genes that share disorders with PCDH15           About GenesLikeMe

    3 Novoseek inferred disease relationships for PCDH15 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    usher syndrome 96.2 18 18719945 (2), 19107147 (2), 17653769 (1), 19151506 (1) (see all 12)
    retinitis pigmentosa 77 4 11398101 (1), 14570705 (1), 15028842 (1)
    blindness 49.7 1 16807332 (1)

    GeneTests: PCDH15
    GeneReviews: PCDH15
    Genetic Association Database (GAD): PCDH15
    Human Genome Epidemiology (HuGE) Navigator: PCDH15 (15 documents)

    Export disorders for PCDH15 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for PCDH15 gene, integrated from 10 sources (see all 72):
    (articles sorted by number of sources associating them with PCDH15)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. (PubMed id 14570705)1, 2, 3, 9 Ahmed Z.M.... Wilcox E.R. (Hum. Mol. Genet. 2003)
    2. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PubMed id 15660226)1, 2, 4, 9 Ouyang X.M.... Liu X.Z. (Hum. Genet. 2005)
    3. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. (PubMed id 11398101)1, 2, 3, 9 Ahmed Z.M.... Wilcox E.R. (Am. J. Hum. Genet. 2001)
    4. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (PubMed id 18719945)1, 2, 9 Ahmed Z.M.... Friedman T.B. (Hum. Genet. 2008)
    5. Protocadherin 15 (PCDH15): a new secreted isoform and a potential marker for NK/T cell lymphomas. (PubMed id 16369489)1, 2, 9 Rouget-Quermalet V.... Schmitt C. (Oncogene 2006)
    6. The R245X mutation of PCDH15 in Ashkenazi Jewish children diagnosed with nonsyndromic hearing loss foreshadows retinitis pigmentosa. (PubMed id 15028842)1, 4, 9 Brownstein Z....Avraham K.B. (Pediatr. Res. 2004)
    7. A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. (PubMed id 19816713)1, 4, 9 Huertas-Vazquez A....Pajukanta P. (Hum. Genet. 2010)
    8. Genome-wide association study of lung function decline in adults with and without asthma. (PubMed id 22424883)1, 4 Imboden M....Probst-Hensch N.M. (J. Allergy Clin. Immunol. 2012)
    9. Simultaneous mutation detection in 90 retinal disease genes in multiple patients using a custom-designed 300-kb retinal resequencing chip. (PubMed id 20801516)1, 4 Booij J.C....Florijn R.J. (Ophthalmology 2011)
    10. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PubMed id 20966902)1, 4 Croteau-Chonka D.C....Mohlke K.L. (Obesity (Silver Spring) 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 65217 HGNC: 14674 AceView: PCDH15 Ensembl:ENSG00000150275 euGenes: HUgn65217
    ECgene: PCDH15 H-InvDB: PCDH15

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PCDH15 Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=PCDH15[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for PCDH15 gene:
    Search GeneIP for patents involving PCDH15

    GeneCards and IP:
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