SLAIN2

Chr 4

SLAIN family member 2

Also known as: KIAA1458

NCBI Gene: 57606ENSG00000109171UniProt: Q9P270OMIM: 610492

Involved in cytoplasmic microtubule organization; microtubule nucleation; and positive regulation of microtubule polymerization. Located in ciliary tip; cytosol; and microtubule cytoskeleton. [provided by Alliance of Genome Resources, Jun 2026]

OMIMResearchGenerating 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
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.40
LOEUF
LOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.40LOEUF
pLI 0.793
Z-score 3.65
OE 0.18 (0.09–0.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.72Z-score
OE missense 0.88 (0.80–0.98)
258 obs / 292.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.18 (0.09–0.40)
0≤0.351.4
Missense OE?0.88 (0.80–0.98)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 4 / 22.8Missense obs/exp: 258 / 292.6Syn Z: 0.48

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SLAIN2 · 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