PHOSPHO2

Chr 2

phosphatase, orphan 2

NCBI Gene: 493911ENSG00000144362UniProt: Q8TCD6

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

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.61
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.61LOEUF
pLI 0.000
Z-score 0.38
OE 0.85 (0.46–1.61)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.71Z-score
OE missense 0.82 (0.70–0.97)
102 obs / 124.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.85 (0.46–1.61)
0≤0.351.4
Missense OE?0.82 (0.70–0.97)
0≤0.61.4
Synonymous OE?0.76
0≤1.21.6
LoF obs/exp: 6 / 7.1Missense obs/exp: 102 / 124.4Syn Z: 1.19

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PHOSPHO2 · 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