NPM2

Chr 8

nucleophosmin/nucleoplasmin 2

NCBI Gene: 10361ENSG00000158806UniProt: Q86SE8OMIM: 608073

Predicted to enable RNA binding activity; chromatin binding activity; and histone binding activity. Involved in several processes, including blastocyst development; oocyte differentiation; and regulation of cell cycle process. Located in chromatin and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.001
Z-score 1.70
OE 0.51 (0.29–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.22Z-score
OE missense 1.06 (0.91–1.23)
123 obs / 116.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.51 (0.29–0.95)
0≤0.351.4
Missense OE?1.06 (0.91–1.23)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 7 / 13.8Missense obs/exp: 123 / 116.2Syn Z: 0.10

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NPM2 · 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