KANSL2

Chr 12

KAT8 regulatory NSL complex subunit 2

Also known as: C12orf41, NSL2

NCBI Gene: 54934ENSG00000139620UniProt: Q9H9L4

Predicted to be involved in positive regulation of DNA-templated transcription. Located in several cellular components, including actin cytoskeleton; cytosol; and nucleoplasm. Part of NSL complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.37
LOEUF
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.37LOEUF
pLI 0.880
Z-score 3.84
OE 0.16 (0.08–0.37)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.49Z-score
OE missense 0.74 (0.66–0.84)
198 obs / 266.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.16 (0.08–0.37)
0≤0.351.4
Missense OE?0.74 (0.66–0.84)
0≤0.61.4
Synonymous OE?0.96
0≤1.21.6
LoF obs/exp: 4 / 24.5Missense obs/exp: 198 / 266.5Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

KANSL2 · 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