CERS5

Chr 12

ceramide synthase 5

Also known as: LASS5, Trh4

NCBI Gene: 91012ENSG00000139624UniProt: Q8N5B7

This gene encodes a protein that belongs to the TLC (TRAM, LAG1 and CLN8 homology domains) family of proteins. The encoded protein functions in the synthesis of ceramide, a lipid molecule that is involved in a several cellular signaling pathways. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…
0
Active trials
12
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.96
LOEUF
Multiple*
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
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.96LOEUF
pLI 0.000
Z-score 1.70
OE 0.64 (0.44–0.96)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.19Z-score
OE missense 0.77 (0.68–0.88)
165 obs / 214.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.64 (0.44–0.96)
0≤0.351.4
Missense OE?0.77 (0.68–0.88)
0≤0.61.4
Synonymous OE?0.73
0≤1.21.6
LoF obs/exp: 17 / 26.5Missense obs/exp: 165 / 214.1Syn Z: 1.86

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CERS5 · 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