NOC2L

Chr 1

NOC2 like nucleolar associated transcriptional repressor

Also known as: NET15, NET7, NIR, PPP1R112

NCBI Gene: 26155ENSG00000188976UniProt: Q9Y3T9OMIM: 610770

Histone modification by histone acetyltransferases (HAT) and histone deacetylases (HDAC) can control major aspects of transcriptional regulation. NOC2L represents a novel HDAC-independent inhibitor of histone acetyltransferase (INHAT) (Hublitz et al., 2005 [PubMed 16322561]).[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.33
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.33LOEUF
pLI 0.000
Z-score -0.17
OE 1.03 (0.81–1.33)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.90Z-score
OE missense 1.25 (1.17–1.34)
577 obs / 462.0 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.03 (0.81–1.33)
0≤0.351.4
Missense OE?1.25 (1.17–1.34)
0≤0.61.4
Synonymous OE?1.60
0≤1.21.6
LoF obs/exp: 43 / 41.8Missense obs/exp: 577 / 462.0Syn Z: -6.71

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

NOC2L · 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