STRC

Chr 15AR

stereocilin

Also known as: DFNB16

NCBI Gene: 161497ENSG00000242866UniProt: Q7RTU9

This gene encodes a protein that is associated with the hair bundle of the sensory hair cells in the inner ear. The hair bundle is composed of stiff microvilli called stereocilia and is involved with mechanoreception of sound waves. This gene is part of a tandem duplication on chromosome 15; the second copy is a pseudogene. Mutations in this gene cause autosomal recessive non-syndromic deafness. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Deafness, autosomal recessive 16MIM #603720
AR
UniProtDeafness-infertility syndrome
427
ClinVar variants
111
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— STRC
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
111 Pathogenic / Likely Pathogenic· 229 VUS of 427 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.88LOEUF
pLI 0.000
Z-score 2.23
OE 0.65 (0.49–0.88)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.27Z-score
OE missense 0.83 (0.76–0.91)
374 obs / 449.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.65 (0.49–0.88)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.76–0.91)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.84
0≤1.21.6
LoF obs/exp: 31 / 47.6Missense obs/exp: 374 / 449.7Syn Z: 1.71

ClinVar Variant Classifications

427 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic76
Likely Pathogenic35
VUS229
Likely Benign37
Benign28
Conflicting14
76
Pathogenic
35
Likely Pathogenic
229
VUS
37
Likely Benign
28
Benign
14
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
14
0
62
0
76
Likely Pathogenic
15
6
14
0
35
VUS
1
180
48
0
229
Likely Benign
0
9
10
18
37
Benign
0
3
19
6
28
Conflicting
—14
Total3019815324419

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

STRC · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
STEREOCILIN; STRC
MIM #606440 · *

Deafness, autosomal recessive 16

MIM #603720

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.
Sommen M et al.·Hum Mutat
2016
Improved variant detection using long-read sequencing and optical mapping: Illustration in STRC-related hearing loss.
Laurent S et al.·Eur J Med Genet
2025Case report
Genetic etiology of non-syndromic hearing loss in Europe.
Del Castillo I et al.·Hum Genet
2022Review
Frequency and clinical features of hearing loss caused by STRC deletions.
Yokota Y et al.·Sci Rep
2019
The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Xiang J et al.·Clin Chem
2023
Mutation spectrum of hearing loss patients in Northwest China: Identification of 20 novel variants.
Ma P et al.·Mol Genet Genomic Med
2024Cohort
Prevalence and spectrum of STRC variants in 1015 sensorineural hearing loss patients: insights from the Chinese population.
Guo L et al.·Mol Genet Genomics
2025Cohort
Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.
Simi A et al.·Laryngoscope
2021
Clinical features of hearing loss caused by STRC gene deletions/mutations in Russian population.
Markova TG et al.·Int J Pediatr Otorhinolaryngol
2020
Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Moteki H et al.·Ann Otol Rhinol Laryngol
2016
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools