SEC24C

Chr 10

SEC24 homolog C, COPII coat complex component

ENSG00000176986UniProt: P53992OMIM: 607185

Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER) (PubMed:10214955, PubMed:17499046, PubMed:18843296, PubMed:20427317, PubMed:41887218). The coat has two main functions, the physical deformation of the endoplasmic reticulum membrane into vesicles and the selection of cargo molecules for their transport to the Golgi complex (PubMed:10214955, PubMed:17499046, PubMed:18843296, PubMed:20427317, PubMed:41887218). Plays a central role in cargo selection within the COPII complex and together with SEC24D may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:18843296, PubMed:20427317, PubMed:41887218). May more specifically package GPI-anchored proteins through the cargo receptor TMED10 (PubMed:20427317). May also be specific for IxM motif-containing cargos like the SNAREs GOSR2 and STX5 (PubMed:18843296)

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
16
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.17
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.17LOEUF
pLI 1.000
Z-score 6.21
OE 0.08 (0.04–0.17)
Highly constrained

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

Missense Constraint?
1.50Z-score
OE missense 0.83 (0.77–0.89)
517 obs / 622.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.08 (0.04–0.17)
0≤0.351.4
Missense OE?0.83 (0.77–0.89)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 4 / 52.6Missense obs/exp: 517 / 622.0Syn Z: -0.53

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

SEC24C · 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