SEC24D Gene: COPII Vesicle Transport and Genetic Disorders
Essential component of the COPII coat complex, implicated in craniofacial development and osteogenesis imperfecta.
Gene Information Card
| Symbol | SEC24D |
|---|---|
| Full Name | SEC24 homolog D, COPII coat complex component |
| Gene Type | protein coding |
| Chromosomal Location | 4q26 |
| NCBI Gene ID | 9871 ncbi.nlm.nih.gov/gene/9871 |
| Ensembl ID | ENSG00000150907 |
| UniProt ID | O94855 |
| OMIM ID | 607186 |
| HGNC ID | 10703 |
| Aliases | SEC24-related gene D, DKFZp686L1810 |
Description
SEC24D encodes a member of the SEC24 family of proteins, which are essential components of the COPII coat complex. This complex mediates the transport of proteins from the endoplasmic reticulum (ER) to the Golgi apparatus. SEC24D specifically functions as a cargo receptor, recognizing and packaging secretory proteins into COPII vesicles. Mutations in SEC24D have been linked to autosomal recessive forms of osteogenesis imperfecta and craniofacial malformations, highlighting its critical role in skeletal development and collagen secretion.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Osteogenesis imperfecta (OI) type XX | Loss-of-function mutations impair collagen secretion from osteoblasts, leading to brittle bones. | ClinVar, OMIM |
| Craniofacial malformation with short stature | Defective COPII transport disrupts secretion of multiple extracellular matrix proteins, affecting craniofacial development. | OMIM, PubMed |
| Cole-Carpenter syndrome (possible) | SEC24D mutations may contribute to the phenotype of craniosynostosis and skeletal abnormalities. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 10.2 | Medium |
| Kidney | 8.5 | Medium |
| Testis | 7.8 | Medium |
| Brain | 5.1 | Low |
| Heart | 4.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 12.5 | High expression in cervical cancer cell line |
| HepG2 | 11.0 | High expression in liver cancer cell line |
| A549 | 9.8 | Moderate expression in lung cancer cell line |
| MCF7 | 6.2 | Low expression in breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.2236C>T (p.Arg746Ter) | Nonsense | Rare | Premature stop codon leading to truncated protein and loss of function |
| c.1234A>G (p.Lys412Glu) | Missense | Rare | Altered cargo binding affinity, impairing COPII vesicle formation |
| c.789_790del (p.Leu264fs) | Frameshift | Rare | Frameshift causing protein truncation and loss of function |
Mutation functional classification
Loss of Function (LOF)
Most SEC24D mutations are loss-of-function, leading to reduced COPII vesicle formation and impaired secretion of collagen and other matrix proteins.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SEC24D.
Dominant Negative (DN)
Some missense mutations may exert dominant-negative effects by interfering with the assembly of the COPII complex, but this is not well established.
View complete mutation data：
Gene Ontology (GO)
| • COPII vesicle coat | • protein transport |
| • ER to Golgi vesicle-mediated transport | • cargo receptor activity |
| • GTPase binding |
Pathways
• COPII vesicle formation
• ER-to-Golgi transport
• Collagen biosynthesis and modification
Protein Summary
SEC24D is a 130 kDa protein that localizes to the ER exit sites. It forms a heterotetrameric complex with SEC23, SEC13, and SEC31 to constitute the COPII coat. SEC24D recognizes specific cargo proteins, such as collagen, and recruits them into nascent vesicles. Its function is essential for proper secretion of extracellular matrix components, and its deficiency leads to skeletal disorders.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC24D Knockout HEK293 Cell Line | EDJ-KQ6794 | Human | 9871 | Details Get a Quote |
| SEC24D Knockout A-549 Cell Line | EDJ-KQ31276 | Human | 9871 | Details Get a Quote |
| SEC24D Knockout HCT 116 Cell Line | EDJ-KQ31277 | Human | 9871 | Details Get a Quote |
| SEC24D Knockout HeLa Cell Line | EDJ-KQ31278 | Human | 9871 | Details Get a Quote |
