PRSS36

Chr 16

serine protease 36

NCBI Gene: 146547 ENSG00000178226 UniProt: Q5K4E3 OMIM: 610560

This gene encodes a serine protease that hydrolyzes specific peptide substrates with a preference for arginine residues. Biallelic mutations cause autosomal recessive nonsyndromic hearing loss (DFNB95), typically presenting as congenital or early-onset sensorineural hearing impairment. The gene shows minimal constraint against loss-of-function variants in population databases.

OMIM ResearchSummary from RefSeq, UniProt

Enables serine-type endopeptidase activity. Predicted to be involved in proteolysis. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

GOFmechanismLOEUF 1.07

Clinical Summary— PRSS36

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.07LOEUF

pLI 0.000

Z-score 1.17

OE 0.80 (0.61–1.07)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.92Z-score

OE missense 0.88 (0.81–0.96)

415 obs / 470.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.80 (0.61–1.07)

0≤0.351.4

Missense OE?0.88 (0.81–0.96)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 33 / 41.1Missense obs/exp: 415 / 470.9Syn Z: 1.36

This gene — mechanism propensity

0.5280th %ile

GOF

0.6930th %ile

LOF

0.4037th %ile

The highest-scoring mechanism for this gene is gain-of-function.

GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.