PDZRN4

Chr 12

PDZ domain containing ring finger 4

Also known as: LNX4, SAMCAP3L

NCBI Gene: 29951ENSG00000165966UniProt: Q6ZMN7

Predicted to enable zinc ion binding activity. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.61
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.61LOEUF
pLI 0.000
Z-score 3.61
OE 0.41 (0.28–0.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.06Z-score
OE missense 1.01 (0.94–1.08)
535 obs / 531.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.41 (0.28–0.61)
0≤0.351.4
Missense OE?1.01 (0.94–1.08)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 18 / 43.7Missense obs/exp: 535 / 531.1Syn Z: -0.13

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PDZRN4 · protein map & ClinVar variants

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

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

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