PLCH2

Chr 1

phospholipase C eta 2

Also known as: PLC-L4, PLC-eta2, PLCL4, PLCeta2

NCBI Gene: 9651ENSG00000149527UniProt: O75038OMIM: 612836

PLCH2 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave PtdIns(4,5) P2 to generate second messengers inositol 1,4,5-trisphosphate and diacylglycerol (Zhou et al., 2005 [PubMed 16107206]).[supplied by OMIM, Jun 2009]

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.80
OE 0.72 (0.55–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.23Z-score
OE missense 0.87 (0.81–0.93)
615 obs / 707.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.72 (0.55–0.96)
0≤0.351.4
Missense OE?0.87 (0.81–0.93)
0≤0.61.4
Synonymous OE?1.11
0≤1.21.6
LoF obs/exp: 35 / 48.6Missense obs/exp: 615 / 707.3Syn Z: -1.50

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PLCH2 · 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