HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
0 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PCDH15
protocadherin related 15
Chromosome 10 · 10q21.1
NCBI Gene: 65217Ensembl: ENSG00000150275.20HGNC: HGNC:14674UniProt: A0A087WTR6
128PubMed Papers
23Diseases
0Drugs
524Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
sensory perception of soundphotoreceptor cell maintenancesensory perception of light stimulusequilibrioceptionUsher syndrome type 1FUsher syndrome type 1Usher syndromeautosomal recessive nonsyndromic hearing loss 23
✦AI Summary

AI summary not yet available. Showing NCBI Gene summary.

protocadherin related 15

⚠Limited data available — This gene has 0 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ23
Usher syndrome type 1FOpen Targets
0.75Strong
Usher syndrome type 1Open Targets
0.74Strong
Usher syndromeOpen Targets
0.72Strong
autosomal recessive nonsyndromic hearing loss 23Open Targets
0.68Moderate
deafnessOpen Targets
0.58Moderate
hearing loss, autosomal recessiveOpen Targets
0.58Moderate
Rare genetic deafnessOpen Targets
0.53Moderate
Retinal dystrophyOpen Targets
0.51Moderate
nonsyndromic deafnessOpen Targets
0.44Moderate
ovarian neoplasmOpen Targets
0.39Weak
alcohol drinkingOpen Targets
0.39Weak
hearing lossOpen Targets
0.37Weak
eye diseaseOpen Targets
0.37Weak
information processing speedOpen Targets
0.35Weak
major depressive disorderOpen Targets
0.34Weak
skin diseaseOpen Targets
0.33Weak
subcutaneous tissue disorderOpen Targets
0.33Weak
ovarian dysfunctionOpen Targets
0.32Weak
risk-taking behaviourOpen Targets
0.32Weak
male reproductive organ cancerOpen Targets
0.29Weak
Deafness, autosomal recessive, 23UniProt
Usher syndrome 1D/FUniProt
Usher syndrome 1FUniProt
Pathogenic Variants524
NM_001384140.1(PCDH15):c.2191G>T (p.Glu731Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 23|Usher syndrome type 1F
★★☆☆2026→ Residue 731
NM_001384140.1(PCDH15):c.1736dup (p.Tyr579Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 23|Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23|Usher syndrome type 1F
★★☆☆2026→ Residue 579
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)Pathogenic
Usher syndrome type 1G|Usher syndrome type 1F|not provided|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 23;Usher syndrome type 1D;Usher syndrome type 1F|Usher syndrome type 1D|Rare genetic deafness|Autosomal recessive nonsyndromic hearing loss 23|PCDH15-related disorder
★★☆☆2026→ Residue 245
NM_001384140.1(PCDH15):c.2630T>A (p.Leu877Ter)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 23|Usher syndrome type 1F
★★☆☆2026→ Residue 877
NM_001384140.1(PCDH15):c.1917+1G>ALikely pathogenic
Autosomal recessive nonsyndromic hearing loss 23|not provided|Usher syndrome type 1F
★★☆☆2026
NM_001384140.1(PCDH15):c.1303del (p.Asp435fs)Pathogenic
not provided|Usher syndrome type 1F
★★☆☆2025→ Residue 435
NM_001384140.1(PCDH15):c.960_967del (p.Gly321fs)Pathogenic
not provided|Usher syndrome type 1F
★★☆☆2025→ Residue 321
NM_001384140.1(PCDH15):c.3122+2T>ALikely pathogenic
Usher syndrome type 1F|not provided
★★☆☆2025
NM_001384140.1(PCDH15):c.1784+1G>TPathogenic
Usher syndrome type 1F|Autosomal recessive nonsyndromic hearing loss 23|Usher syndrome type 1D|not provided
★★☆☆2025
NM_001384140.1(PCDH15):c.4671+1217C>TPathogenic
Autosomal recessive nonsyndromic hearing loss 23
★★☆☆2025
NM_001384140.1(PCDH15):c.1006C>T (p.Arg336Ter)Pathogenic
Usher syndrome type 1F|not provided|Autosomal recessive nonsyndromic hearing loss 23
★★☆☆2025→ Residue 336
NM_001384140.1(PCDH15):c.3983+1G>TPathogenic
Usher syndrome type 1F|not provided|Retinal dystrophy
★★☆☆2025
NM_001384140.1(PCDH15):c.1998-2A>GPathogenic
Usher syndrome type 1F|Rare genetic deafness|not provided|Autosomal recessive nonsyndromic hearing loss 23
★★☆☆2025
NM_001384140.1(PCDH15):c.556C>T (p.Gln186Ter)Pathogenic
Usher syndrome type 1|Usher syndrome type 1F|Autosomal recessive nonsyndromic hearing loss 23|not provided|Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23
★★☆☆2025→ Residue 186
NM_001384140.1(PCDH15):c.3358C>T (p.Arg1120Ter)Pathogenic
Rare genetic deafness|not provided|Usher syndrome type 1F|Autosomal recessive nonsyndromic hearing loss 23|PCDH15-related disorder|Usher syndrome type 1F;Usher syndrome type 1D;Autosomal recessive nonsyndromic hearing loss 23
★★☆☆2025→ Residue 1120
NM_001384140.1(PCDH15):c.274C>T (p.Gln92Ter)Pathogenic
Usher syndrome type 1F|Retinal dystrophy|Autosomal recessive nonsyndromic hearing loss 23|not provided
★★☆☆2025→ Residue 92
NM_001384140.1(PCDH15):c.358_359del (p.Cys120fs)Pathogenic
Usher syndrome type 1F|not provided|Autosomal recessive nonsyndromic hearing loss 23|Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23
★★☆☆2025→ Residue 120
NM_001384140.1(PCDH15):c.400C>T (p.Arg134Ter)Pathogenic
Usher syndrome type 1F|not provided|Usher syndrome type 1|Autosomal recessive nonsyndromic hearing loss 23
★★☆☆2025→ Residue 134
NM_033056.4(PCDH15):c.4548_4551dup (p.Asp1518delinsIleTer)Pathogenic
not provided|Autosomal recessive nonsyndromic hearing loss 23;Usher syndrome type 1D;Usher syndrome type 1F
★★☆☆2025→ Residue 1518
NM_001384140.1(PCDH15):c.1915C>T (p.Gln639Ter)Pathogenic
Usher syndrome type 1F|not provided|Usher syndrome type 1D;Usher syndrome type 1F;Autosomal recessive nonsyndromic hearing loss 23
★★☆☆2025→ Residue 639
View on ClinVar ↗
Related Genes
ATP2B2Protein interaction100%OTOFProtein interaction100%CIB2Protein interaction99%WHRNProtein interaction99%MYO15AProtein interaction99%CDHR2Protein interaction99%
Tissue Expression6 tissues
Brain
100%
Lung
73%
Heart
30%
Bone Marrow
7%
Liver
1%
Ovary
1%
Gene Interaction Network
Click a node to explore
PCDH15ATP2B2OTOFCIB2WHRNMYO15ACDHR2
PROTEIN STRUCTURE
Preparing viewer…
PDB5T4M · 2.24 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.82LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.59–0.82]
RankingsWhere PCDH15 stands among ~20K protein-coding genes
  • #3,662of 20,598
    Most Researched128 · top quartile
  • #100of 5,498
    Most Pathogenic Variants524 · top 5%
  • #6,935of 17,882
    Most Constrained (LOEUF)0.82
Genes detectedPCDH15
Sources retrieved0 papers
Response time—