PLAC8

Chr 4

placenta associated 8

Also known as: C15, DGIC, PNAS-144, onzin

NCBI Gene: 51316ENSG00000145287UniProt: Q9UHV8

Predicted to enable chromatin binding activity. Predicted to be involved in positive regulation of cold-induced thermogenesis and positive regulation of transcription by RNA polymerase II. Predicted to act upstream of or within several processes, including brown fat cell differentiation; defense response to bacterium; and response to cold. Predicted to be located in azurophil granule lumen and extracellular region. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
36
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.17
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?
1.17LOEUF
pLI 0.120
Z-score 1.34
OE 0.38 (0.15–1.17)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.06Z-score
OE missense 0.65 (0.51–0.83)
46 obs / 71.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.38 (0.15–1.17)
0≤0.351.4
Missense OE?0.65 (0.51–0.83)
0≤0.61.4
Synonymous OE?0.72
0≤1.21.6
LoF obs/exp: 2 / 5.3Missense obs/exp: 46 / 71.2Syn Z: 1.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLAC8 · 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