PCDH15 — protocadherin related 15

5 sources retrieved · Most recent: April 2026 · Index updated 3 months ago

128PubMed Papers

#3,668 · top 19% of 19K genes

23Diseases

top 2%

0Drugs

526Pathogenic Variants

top 2%

OMIM Disease GeneVariant-RichExperimental GO EvidenceSwiss-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 Associations23

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 Variants526

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

★★☆☆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.3122+2T>ALikely pathogenic

Usher syndrome type 1F|not provided

★★☆☆2025

NM_001384140.1(PCDH15):c.960_967del (p.Gly321fs)Pathogenic

not provided|Usher syndrome type 1F

★★☆☆2025→ Residue 321

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

★★☆☆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

Tissue Expression6 tissues

Brain

100%

Lung

73%

Heart

30%

Bone Marrow

Liver

Ovary

Gene Interaction Network6 neighbors

Click a node to explore

Structure8 PDB hits

Preparing viewer…

PDB5T4M · 2.24 Å · X-ray

View on RCSB

ConstraintgnomAD v4.1

LOEUFⓘ

0.82LoF Tolerant

pLIⓘ

0.00Tolerant

Observed/Expected LoF0.70 [0.59–0.82]

Rankings3 dim

Where PCDH15 stands among ~20K protein-coding genes

#3,662of 20,598
Most Researched128 · top quartile
#102of 5,509
Most Pathogenic Variants526 · top 5%
#6,935of 17,882
Most Constrained (LOEUF)0.82