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 ha... See more...

Aliases for PCDH15 Gene

Aliases for PCDH15 Gene

  • Protocadherin Related 15 2 3 5
  • Cadherin-Related Family Member 15 2 3
  • Protocadherin-15 3 4
  • CDHR15 2 3
  • USH1F 3 4
  • Deafness, Autosomal Recessive 23 2
  • Protocadherin 15 2
  • DFNB23 3
  • PCDH15 5

External Ids for PCDH15 Gene

Previous HGNC Symbols for PCDH15 Gene

  • USH1F
  • DFNB23

Previous GeneCards Identifiers for PCDH15 Gene

  • GC10M054397
  • GC10M054586
  • GC10M055473
  • GC10M054925
  • GC10M055250
  • GC10M049544

Summaries for PCDH15 Gene

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 Usher Syndrome, Type If. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is PCDH10.

UniProtKB/Swiss-Prot Summary for PCDH15 Gene

  • Calcium-dependent cell-adhesion protein. Essential for maintenance of normal retinal and cochlear function.

Gene Wiki entry for PCDH15 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PCDH15 Gene

Genomics for PCDH15 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PCDH15 Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH10J055627 Promoter/Enhancer 1.3 Ensembl ENCODE CraniofacialAtlas 600.7 +1.2 1193 1.3 PRDM10 ZNF341 RAD21 CTCF ZBTB26 ZBTB17 ZNF189 ZNF335 TRIM28 TAF1 PCDH15 piR-55361-054 MTRNR2L5
GH10J055629 Promoter/Enhancer 1.1 ENCODE CraniofacialAtlas 600.7 -1.4 -1416 2.4 CREB1 CTCF PRDM10 RFX5 ZIC2 PATZ1 EZH2 ZNF600 ZNF341 SCRT2 PCDH15 piR-61945-048 ZWINT
GH10J054801 Promoter 0.9 EPDnew Ensembl 600 +828.6 828556 1.3 CTCF RAD21 TRIM28 SMARCA4 PCDH15 piR-31199-032 ENSG00000236958 MTRNR2L5
GH10J054739 Promoter 0.3 EPDnew 600 +889.9 889938 0.1 PCDH15 piR-59136-007 piR-31199-032 MTRNR2L5
GH10J055602 Promoter 0.4 CraniofacialAtlas 0.3 +27.3 27341 0.4 ZNF341 piR-33432-052 piR-55361-054 MTRNR2L5 PCDH15
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PCDH15 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PCDH15

Top Transcription factor binding sites by QIAGEN in the PCDH15 gene promoter:
  • AML1a
  • C/EBPbeta
  • Evi-1
  • FOXD3
  • GATA-1
  • IRF-2
  • POU2F1
  • POU2F1a
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for PCDH15 Gene

Genomic Locations for PCDH15 Gene
1,826,412 bases
Minus strand
1,825,172 bases
Minus strand

Genomic View for PCDH15 Gene

Genes around PCDH15 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PCDH15 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PCDH15 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PCDH15 Gene

Proteins for PCDH15 Gene

  • Protein details for PCDH15 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Protein Accession:
    Secondary Accessions:
    • A6NL19
    • C6ZEF5
    • C6ZEF6
    • C6ZEF7
    • Q5VY38
    • Q5VY39
    • Q6TRH8
    • Q8NDB9
    • Q96QT8

    Protein attributes for PCDH15 Gene

    1955 amino acids
    Molecular mass:
    216069 Da
    Quaternary structure:
    • Antiparallel heterodimer with CDH23. Found in a complex with TMIE and LHFPL5. Interacts with LHFPL5/TMHS; this interaction is required for efficient localization to hair bundles. Interacts with MYO7A. Interacts with USH1G; this interaction may recruit USH1G to the plasma membrane. Interacts with TOMT. Isoforms CD1 and CD3 interact with TMC1 (via N-terminus) and TMC2 (via N-terminus).
    • Sequence=ACF76477.1; Type=Miscellaneous discrepancy; Note=Unlikely isoform. Probable cloning artifact.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for PCDH15 Gene

    Alternative splice isoforms for PCDH15 Gene


neXtProt entry for PCDH15 Gene

Post-translational modifications for PCDH15 Gene

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

No data available for DME Specific Peptides for PCDH15 Gene

Domains & Families for PCDH15 Gene

Gene Families for PCDH15 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Plasma proteins
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PCDH15 Gene

Suggested Antigen Peptide Sequences for PCDH15 Gene

GenScript: Design optimal peptide antigens:
  • Protocadherin 15 (A2A3D8_HUMAN)
  • Protocadherin-15-CD2 isoform 1 (C6ZEF5_HUMAN)
  • Protocadherin-15-CD2 isoform 2 (C6ZEF6_HUMAN)
  • Protocadherin-15-CD3 isoform 1 (C6ZEF7_HUMAN)
  • Protocadherin-15 (PCD15_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with CDH23.
  • Cadherin repeats 1 and 2 mediate calcium-dependent heterophilic interaction with CDH23.
  • 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.
genes like me logo Genes that share domains with PCDH15: view

Function for PCDH15 Gene

Molecular function for PCDH15 Gene

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

Phenotypes From GWAS Catalog for PCDH15 Gene

Gene Ontology (GO) - Molecular Function for PCDH15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005509 calcium ion binding IEA --
GO:0044877 protein-containing complex binding IEA --
GO:0047485 protein N-terminus binding IEA --
genes like me logo Genes that share ontologies with PCDH15: view
genes like me logo Genes that share phenotypes with PCDH15: view

Human Phenotype Ontology for PCDH15 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCDH15

Clone Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targets and HOMER Transcription for PCDH15 Gene

Localization for PCDH15 Gene

Subcellular locations from UniProtKB/Swiss-Prot for PCDH15 Gene

Cell membrane. Single-pass type I membrane protein. Note=Efficient localization to the plasma membrane requires the presence of LHFPL5. {ECO:0000250}.
[Isoform 3]: Secreted.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PCDH15 gene
Compartment Confidence
extracellular 5
plasma membrane 4
cytoskeleton 2
mitochondrion 1
nucleus 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1
peroxisome 0

Gene Ontology (GO) - Cellular Components for PCDH15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001750 photoreceptor outer segment IDA 14570705
GO:0005576 extracellular region IEA --
GO:0005737 cytoplasm IEA --
GO:0005886 plasma membrane IEA --
GO:0005887 integral component of plasma membrane IBA 21873635
genes like me logo Genes that share ontologies with PCDH15: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PCDH15 Gene

Pathways & Interactions for PCDH15 Gene

PathCards logo

SuperPathways for PCDH15 Gene

No Data Available

Gene Ontology (GO) - Biological Process for PCDH15 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001964 startle response IEA --
GO:0002009 morphogenesis of an epithelium IEA --
GO:0007015 actin filament organization IEA --
GO:0007155 cell adhesion IEA,IBA 21873635
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
genes like me logo Genes that share ontologies with PCDH15: view

No data available for Pathways by source and SIGNOR curated interactions for PCDH15 Gene

Drugs & Compounds for PCDH15 Gene

(1) Drugs for PCDH15 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6556
genes like me logo Genes that share compounds with PCDH15: view

Transcripts for PCDH15 Gene

mRNA/cDNA for PCDH15 Gene

10 NCBI additional mRNA sequence :
36 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PCDH15

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for PCDH15 Gene

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: -

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

Relevant External Links for PCDH15 Gene

GeneLoc Exon Structure for

Expression for PCDH15 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PCDH15 Gene

mRNA differential expression in normal tissues according to GTEx for PCDH15 Gene

This gene is overexpressed in Brain - Amygdala (x6.1), Brain - Substantia nigra (x5.3), Brain - Hypothalamus (x4.9), Brain - Hippocampus (x4.8), and Brain - Anterior cingulate cortex (BA24) (x4.4).

Protein differential expression in normal tissues from HIPED for PCDH15 Gene

This gene is overexpressed in Fetal Brain (32.9), Blymphocyte (8.5), and Tlymphocyte (8.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PCDH15 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PCDH15

SOURCE GeneReport for Unigene cluster for PCDH15 Gene:


mRNA Expression by UniProt/SwissProt for PCDH15 Gene:

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.

Evidence on tissue expression from TISSUES for PCDH15 Gene

  • Eye(4.5)
  • Nervous system(4.5)
  • Lymph node(4)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PCDH15 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • immune
  • nervous
  • skeletal muscle
  • skeleton
Head and neck:
  • brain
  • cerebellum
  • cranial nerve
  • ear
  • eye
  • face
  • head
  • inner ear
  • middle ear
  • nose
  • outer ear
  • skull
  • peripheral nerve
  • peripheral nervous system
genes like me logo Genes that share expression patterns with PCDH15: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and Protein tissue co-expression partners for PCDH15 Gene

Orthologs for PCDH15 Gene

This gene was present in the common ancestor of animals.

Orthologs for PCDH15 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia PCDH15 30 31
  • 97.29 (n)
(Bos Taurus)
Mammalia LOC100140108 30
  • 89.98 (n)
PCDH15 31
  • 82 (a)
(Monodelphis domestica)
Mammalia PCDH15 31
  • 89 (a)
(Canis familiaris)
Mammalia PCDH15 30 31
  • 86.53 (n)
(Ornithorhynchus anatinus)
Mammalia -- 31
  • 86 (a)
-- 31
  • 71 (a)
-- 31
  • 51 (a)
(Mus musculus)
Mammalia Pcdh15 30 17 31
  • 82.45 (n)
(Rattus norvegicus)
Mammalia Pcdh15 30
  • 81.83 (n)
(Gallus gallus)
Aves PCDH15 30 31
  • 74.72 (n)
(Anolis carolinensis)
Reptilia PCDH15 31
  • 77 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pcdh15 30
  • 69.75 (n)
(Danio rerio)
Actinopterygii pcdh15b 30 31
  • 65.34 (n)
pcdh15a 31
  • 58 (a)
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP002310 30
  • 42.27 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta Cad99C 30 31
  • 42.17 (n)
(Caenorhabditis elegans)
Secernentea cdh-5 30
  • 42.04 (n)
cdh-3 31
  • 10 (a)
Species where no ortholog for PCDH15 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for PCDH15 Gene

Gene Tree for PCDH15 (if available)
Gene Tree for PCDH15 (if available)
Evolutionary constrained regions (ECRs) for PCDH15: view image

Paralogs for PCDH15 Gene

(3) SIMAP similar genes for PCDH15 Gene using alignment to 19 proteins:

  • A2A3D8_HUMAN
  • A2A3D9_HUMAN
  • A2A3E1_HUMAN
  • A2A3E2_HUMAN
  • A2A3E3_HUMAN
  • A2A3E4_HUMAN
  • A2A3E5_HUMAN
  • A2A3E6_HUMAN
  • A2A3E7_HUMAN
  • A2A3E8_HUMAN
  • A9Z1W1_HUMAN
  • C9J4F3_HUMAN
  • E7EM53_HUMAN
  • E7EM97_HUMAN
genes like me logo Genes that share paralogs with PCDH15: view

Variants for PCDH15 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PCDH15 Gene

SNP ID Clinical significance and condition Chr 10 pos Variation AA Info Type
636185 Likely Pathogenic: Progressive cone dystrophy (without rod involvement) 53,821,877(-) CTG/C FRAMESHIFT_VARIANT,INTRON_VARIANT
641407 Pathogenic: not provided 53,840,356(-) TG/T FRAMESHIFT_VARIANT
641711 Pathogenic: not provided 54,195,779(-) A/C NONSENSE
650649 Pathogenic: not provided 54,183,558(-) T/TG FRAMESHIFT_VARIANT
650919 Pathogenic: not provided 53,866,698(-) G/A NONSENSE

Additional dbSNP identifiers (rs#s) for PCDH15 Gene

Structural Variations from Database of Genomic Variants (DGV) for PCDH15 Gene

Variant ID Type Subtype PubMed ID
dgv1146n54 CNV loss 21841781
dgv1153n54 CNV loss 21841781
dgv1154n54 CNV loss 21841781
dgv1155n54 CNV loss 21841781
dgv1156n54 CNV loss 21841781
dgv1157n54 CNV loss 21841781
dgv1158n54 CNV loss 21841781
dgv1159n54 CNV loss 21841781
dgv1160n54 CNV loss 21841781
dgv1161n54 CNV gain 21841781
dgv1162n54 CNV gain 21841781
dgv1163n54 CNV gain 21841781
dgv1164n54 CNV gain 21841781
dgv1165n54 CNV loss 21841781
dgv132e214 CNV gain 21293372
dgv14e180 CNV deletion 20482838
dgv152n67 CNV loss 20364138
dgv241e212 CNV loss 25503493
dgv242e212 CNV gain 25503493
dgv243e212 CNV gain 25503493
dgv861n100 CNV loss 25217958
dgv862n100 CNV gain 25217958
dgv93n27 CNV loss 19166990
dgv94n27 CNV loss 19166990
dgv95n27 CNV loss 19166990
dgv96n27 CNV loss 19166990
esv1006375 CNV gain 20482838
esv1007583 CNV insertion 20482838
esv1009504 CNV gain 20482838
esv1014340 CNV insertion 17803354
esv1228234 CNV insertion 17803354
esv1246910 CNV deletion 17803354
esv1378415 CNV insertion 17803354
esv1589340 CNV deletion 17803354
esv2034822 CNV deletion 18987734
esv2168362 CNV deletion 18987734
esv22182 CNV loss 19812545
esv2321279 CNV deletion 18987734
esv2561219 CNV deletion 19546169
esv2654824 CNV deletion 19546169
esv2659575 CNV deletion 23128226
esv2661074 CNV deletion 23128226
esv2662719 CNV deletion 23128226
esv2668457 CNV deletion 23128226
esv2676429 CNV deletion 23128226
esv2676676 CNV deletion 23128226
esv2736995 CNV deletion 23290073
esv2737006 CNV deletion 23290073
esv2737017 CNV deletion 23290073
esv2737029 CNV deletion 23290073
esv2737040 CNV deletion 23290073
esv2737051 CNV deletion 23290073
esv2737062 CNV deletion 23290073
esv2737073 CNV deletion 23290073
esv2737084 CNV deletion 23290073
esv2737095 CNV deletion 23290073
esv2750962 CNV loss 17911159
esv2759753 CNV loss 17122850
esv2759754 CNV gain+loss 17122850
esv2760189 CNV gain 21179565
esv29200 CNV loss 19812545
esv29623 CNV gain 19812545
esv3302909 CNV tandem duplication 20981092
esv3303945 CNV mobile element insertion 20981092
esv3304372 CNV mobile element insertion 20981092
esv3321650 CNV insertion 20981092
esv33398 CNV gain 17666407
esv3352344 CNV insertion 20981092
esv3358293 CNV insertion 20981092
esv3363252 CNV insertion 20981092
esv3373843 CNV insertion 20981092
esv3423353 CNV insertion 20981092
esv3432772 CNV insertion 20981092
esv3546313 CNV deletion 23714750
esv3546316 CNV deletion 23714750
esv3546317 CNV deletion 23714750
esv3546319 CNV deletion 23714750
esv3577238 CNV gain 25503493
esv3578910 CNV loss 25503493
esv3578911 CNV loss 25503493
esv3578914 CNV loss 25503493
esv3578918 CNV loss 25503493
esv3623300 CNV loss 21293372
esv3623302 CNV loss 21293372
esv3623303 CNV loss 21293372
esv3623304 CNV loss 21293372
esv3623305 CNV loss 21293372
esv3623311 CNV loss 21293372
esv3623314 CNV loss 21293372
esv3623316 CNV gain 21293372
esv3623320 CNV loss 21293372
esv3623321 CNV loss 21293372
esv3891814 CNV loss 25118596
esv9702 CNV loss 19470904
nsv1037228 CNV loss 25217958
nsv1041917 CNV loss 25217958
nsv1043144 CNV loss 25217958
nsv1045621 CNV gain 25217958
nsv1048014 CNV loss 25217958
nsv1049442 CNV gain 25217958
nsv1052386 CNV gain 25217958
nsv1053651 CNV gain 25217958
nsv1053832 CNV gain 25217958
nsv1069052 CNV deletion 25765185
nsv1069493 CNV deletion 25765185
nsv1069494 CNV deletion 25765185
nsv1113299 CNV deletion 24896259
nsv1116647 CNV tandem duplication 24896259
nsv1122529 CNV deletion 24896259
nsv1125332 OTHER inversion 24896259
nsv1134011 CNV deletion 24896259
nsv1137925 CNV deletion 24896259
nsv1144489 CNV deletion 24896259
nsv1144490 CNV deletion 24896259
nsv1144491 CNV deletion 24896259
nsv1145457 CNV deletion 24896259
nsv1148919 CNV deletion 26484159
nsv1161954 CNV duplication 26073780
nsv24798 CNV deletion 16902084
nsv25061 CNV insertion 16902084
nsv442577 CNV gain 18776908
nsv467213 CNV loss 19166990
nsv467214 CNV loss 19166990
nsv467217 CNV loss 19166990
nsv467221 CNV loss 19166990
nsv467226 CNV loss 19166990
nsv467228 CNV loss 19166990
nsv467229 CNV loss 19166990
nsv470942 CNV gain 18288195
nsv470943 CNV loss 18288195
nsv471793 CNV loss 16327809
nsv476624 CNV novel sequence insertion 20440878
nsv514560 CNV gain 21397061
nsv516160 CNV loss 19592680
nsv520151 CNV gain 19592680
nsv520863 CNV gain 19592680
nsv524035 CNV loss 19592680
nsv525948 CNV loss 19592680
nsv526545 CNV loss 19592680
nsv527039 CNV loss 19592680
nsv550947 CNV loss 21841781
nsv550951 CNV loss 21841781
nsv550952 CNV loss 21841781
nsv550955 CNV loss 21841781
nsv550956 CNV gain+loss 21841781
nsv550960 CNV loss 21841781
nsv550966 CNV loss 21841781
nsv550967 CNV gain 21841781
nsv550970 CNV gain 21841781
nsv550975 CNV gain 21841781
nsv550986 CNV loss 21841781
nsv6687 CNV insertion 18451855
nsv6698 CNV deletion 18451855
nsv6709 CNV deletion 18451855
nsv818762 CNV loss 17921354
nsv818763 CNV loss 17921354
nsv820195 CNV loss 19587683
nsv820422 CNV duplication 20802225
nsv825390 CNV gain 20364138
nsv825391 CNV gain 20364138
nsv825392 CNV gain 20364138
nsv825393 CNV loss 20364138
nsv831879 CNV gain 17160897
nsv8667 CNV loss 18304495
nsv8668 CNV loss 18304495
nsv948012 CNV duplication 23825009
nsv948013 CNV duplication 23825009
nsv948014 CNV duplication 23825009
nsv948015 CNV duplication 23825009
nsv956100 CNV deletion 24416366

Variation tolerance for PCDH15 Gene

Residual Variation Intolerance Score: 92.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 21.81; 99.34% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PCDH15 Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PCDH15 Gene

Disorders for PCDH15 Gene

MalaCards: The human disease database

(54) MalaCards diseases for PCDH15 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards


  • 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. {ECO:0000269 PubMed:15660226, ECO:0000269 PubMed:22815625}. 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. {ECO:0000269 PubMed:15537665, ECO:0000269 PubMed:18719945}. 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. {ECO:0000269 PubMed:14570705, ECO:0000269 PubMed:18719945, ECO:0000269 PubMed:28281779}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PCDH15

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with PCDH15: view

No data available for Genatlas for PCDH15 Gene

Publications for PCDH15 Gene

  1. Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. (PMID: 15660226) Ouyang XM … Liu XZ (Human genetics 2005) 3 4 23 41
  2. PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23. (PMID: 14570705) Ahmed ZM … Wilcox ER (Human molecular genetics 2003) 2 3 4 23
  3. Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. (PMID: 11398101) Ahmed ZM … Wilcox ER (American journal of human genetics 2001) 2 3 4 23
  4. A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemia. (PMID: 19816713) Huertas-Vazquez A … Pajukanta P (Human genetics 2010) 3 23 41
  5. Gene structure and mutant alleles of PCDH15: nonsyndromic deafness DFNB23 and type 1 Usher syndrome. (PMID: 18719945) Ahmed ZM … Friedman TB (Human genetics 2008) 3 4 23

Products for PCDH15 Gene

Sources for PCDH15 Gene