PJVK

Chr 2AR

pejvakin

Also known as: DFNB59

NCBI Gene: 494513ENSG00000204311UniProt: Q0ZLH3

The protein encoded by this gene is a member of the gasdermin family, a family which is found only in vertebrates. The encoded protein is required for the proper function of auditory pathway neurons. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal recessive type 59 (DFNB59). [provided by RefSeq, Dec 2008]

Primary Disease Associations & Inheritance

Deafness, autosomal recessive 59MIM #610220
AR
0
Active trials
74
Pathogenic / LP
330
ClinVar variants
4
Pubs (1 yr)
0.1
Missense Z
1.15
LOEUF
Clinical Summary— PJVK
🧬
Gene-Disease Validity (ClinGen)
nonsyndromic genetic hearing loss · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
74 Pathogenic / Likely Pathogenic· 101 VUS of 330 total submissions
📖
GeneReview available — PJVK
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

pubtator: TimeoutError: The operation was aborted due to timeout

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.15LOEUF
pLI 0.000
Z-score 1.07
OE 0.73 (0.48–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.13Z-score
OE missense 0.97 (0.86–1.10)
181 obs / 186.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.73 (0.48–1.15)
0≤0.351.4
Missense OE0.97 (0.86–1.10)
0≤0.61.4
Synonymous OE0.88
0≤1.21.6
LoF obs/exp: 14 / 19.1Missense obs/exp: 181 / 186.1Syn Z: 0.77

ClinVar Variant Classifications

330 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic56
Likely Pathogenic18
VUS101
Likely Benign124
Benign14
Conflicting17
56
Pathogenic
18
Likely Pathogenic
101
VUS
124
Likely Benign
14
Benign
17
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
19
4
33
0
56
Likely Pathogenic
7
0
10
1
18
VUS
0
72
26
3
101
Likely Benign
0
4
52
68
124
Benign
0
0
14
0
14
Conflicting
—17
Total268013572330

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

View in ClinVar →

PJVK · protein map & ClinVar variants

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

Gene2Phenotype Curations

PJVK-related deafness

definitive
ARLoss Of FunctionAbsent Gene Product
Ear
G2P ↗

Gene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients