SEC24D

SEC24 homolog D, COPII coat complex component

Ensembl:
ENSG00000150961
UniProt:
O94855
OMIM:
607186
Synonyms:
KIAA0755

Cilia effects upon perturbation of SEC24D

Ciliogenesis screen results (4 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.79) PMID:41160700

Phenotypes

Mouse phenotype:
abnormal stomach morphology; preweaning lethality; complete penetrance; impaired glucose tolerance
Mouse ciliopathy phenotype:
abnormal liver morphology

Ciliopathy associations

  • Carpenter Syndrome

Subcellular localization

vesicles

Function

Mutations in SEC24D cause Carpenter Syndrome (PMID: 30462379).