NOMO2

Chr 16

NODAL modulator 2

The protein functions as a component of the multi-pass translocon complex that mediates insertion of multi-pass membrane proteins into cellular membranes. NOMO2 mutations cause neurodevelopmental disorders with intellectual disability, developmental delay, and seizures, typically presenting in infancy or early childhood. The condition follows an autosomal recessive inheritance pattern.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.07
Clinical SummaryNOMO2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.07LOEUF
pLI 0.000
Z-score 1.34
OE 0.66 (0.421.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
1.03Z-score
OE missense 0.81 (0.720.91)
186 obs / 230.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.66 (0.421.07)
00.351.4
Missense OE0.81 (0.720.91)
00.61.4
Synonymous OE0.86
01.21.6
LoF obs/exp: 12 / 18.1Missense obs/exp: 186 / 230.1Syn Z: 1.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NOMO2 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found