SGMS1

Chr 10

sphingomyelin synthase 1

Also known as: MOB, MOB1, SMS1, TMEM23, hmob33

NCBI Gene: 259230ENSG00000198964UniProt: Q86VZ5

The protein encoded by this gene is predicted to be a five-pass transmembrane protein. This gene may be predominately expressed in brain. [provided by RefSeq, Jul 2008]

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
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF· LoF intol.
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.35LOEUF
pLI 0.945
Z-score 3.80
OE 0.13 (0.06–0.35)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.67Z-score
OE missense 0.52 (0.45–0.60)
125 obs / 241.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.13 (0.06–0.35)
0≤0.351.4
Missense OE?0.52 (0.45–0.60)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 3 / 22.4Missense obs/exp: 125 / 241.6Syn Z: -0.07

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SGMS1 · 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