NUTM2G

Chr 9

NUT family member 2G

Also known as: FAM22G, NUTMG

The NUTM2G protein is a nuclear testis midline carcinoma family member involved in transcriptional regulation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability, seizures, and brain malformations including microcephaly and cerebellar hypoplasia. The gene shows low constraint against loss-of-function variants, consistent with its recessive inheritance pattern.

LOEUF 1.27
Clinical SummaryNUTM2G
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.27LOEUF
pLI 0.000
Z-score 0.66
OE 0.84 (0.561.27)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.39Z-score
OE missense 1.06 (0.971.14)
426 obs / 403.7 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.84 (0.561.27)
00.351.4
Missense OE1.06 (0.971.14)
00.61.4
Synonymous OE1.14
01.21.6
LoF obs/exp: 16 / 19.1Missense obs/exp: 426 / 403.7Syn Z: -1.40

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

NUTM2G · 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