SEC24D

Chr 4AR

SEC24 homolog D, COPII coat complex component

ENSG00000150961 UniProt: O94855 OMIM: 607186

SEC24D encodes a component of the COPII coat protein complex that promotes vesicle formation from the endoplasmic reticulum and plays a central role in selecting cargo molecules for transport to the Golgi complex. Mutations cause Cole-Carpenter syndrome, an autosomal recessive disorder characterized by craniofacial malformations and bone fragility. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.584), consistent with its role in fundamental cellular transport processes.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Component of the coat protein complex II (COPII) which promotes the formation of transport vesicles from the endoplasmic reticulum (ER). 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:17499046, PubMed:18843296, PubMed:20427317). Plays a central role in cargo selection within the COPII complex and together with SEC24C may have a different specificity compared to SEC24A and SEC24B (PubMed:17499046, PubMed:18843296, PubMed:20427317). 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)

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Cole-Carpenter syndrome 2MIM #616294

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.58

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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