PEA15

Chr 1

proliferation and apoptosis adaptor protein 15

Also known as: HMAT1, HUMMAT1H, MAT1, MAT1H, PEA-15, PED, PED-PEA15, PED/PEA15

NCBI Gene: 8682ENSG00000162734UniProt: Q15121

This gene encodes a death effector domain-containing protein that functions as a negative regulator of apoptosis. The encoded protein is an endogenous substrate for protein kinase C. This protein is also overexpressed in type 2 diabetes mellitus, where it may contribute to insulin resistance in glucose uptake. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.58
LOEUF
GOF
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
Moderate LoF intolerance
LoF Constraint?
0.58LOEUF
pLI 0.792
Z-score 2.11
OE 0.00 (0.00–0.58)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.24Z-score
OE missense 0.28 (0.20–0.40)
21 obs / 75.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.00 (0.00–0.58)
0≤0.351.4
Missense OE?0.28 (0.20–0.40)
0≤0.61.4
Synonymous OE?1.12
0≤1.21.6
LoF obs/exp: 0 / 5.2Missense obs/exp: 21 / 75.9Syn Z: -0.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PEA15 · 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