NYAP2

Chr 2

neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2

Also known as: KIAA1486

NCBI Gene: 57624ENSG00000144460UniProt: Q9P242OMIM: 615478

Predicted to be involved in neuron projection morphogenesis and phosphatidylinositol 3-kinase/protein kinase B signal transduction. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.71
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.71LOEUF
pLI 0.000
Z-score 2.65
OE 0.42 (0.26–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.79Z-score
OE missense 0.89 (0.81–0.97)
360 obs / 404.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.42 (0.26–0.71)
0≤0.351.4
Missense OE?0.89 (0.81–0.97)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 10 / 24.0Missense obs/exp: 360 / 404.7Syn Z: -0.03

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

NYAP2 · 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