SEC24B: A Key Component of the COPII Vesicle Coat
SEC24B gene, protein, function, and disease associations
Gene Information Card
| Symbol | SEC24B |
|---|---|
| Full Name | SEC24 homolog B, COPII coat complex component |
| Gene Type | protein-coding |
| Chromosomal Location | 4q25 |
| NCBI Gene ID | 10427 ncbi.nlm.nih.gov/gene/10427 |
| Ensembl ID | ENSG00000138668 |
| UniProt ID | O95486 |
| OMIM ID | 607184 |
| HGNC ID | 10704 |
| Aliases | SEC24B, SEC24-related gene family, member B |
Description
SEC24B encodes a member of the SEC24 subfamily of the COPII coat complex, which is essential for vesicle formation and cargo selection during endoplasmic reticulum (ER)-to-Golgi transport. The protein is involved in the export of specific transmembrane proteins and is critical for normal development and cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cholestasis, progressive familial intrahepatic 1 (PFIC1) | SEC24B mutations impair bile acid transporter trafficking, leading to cholestasis | ClinVar, OMIM |
| Neural tube defects (NTDs) | SEC24B variants disrupt COPII-mediated secretion of planar cell polarity proteins | OMIM, PubMed |
| Craniofacial abnormalities | SEC24B deficiency alters secretion of extracellular matrix components | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Brain | 8.3 | Low |
| Kidney | 10.1 | Medium |
| Small intestine | 14.2 | Medium |
| Pancreas | 6.7 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Liver cancer cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| SH-SY5Y | 7.2 | Neuroblastoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412*) | Nonsense | <0.01% | Loss of function, associated with cholestasis |
| c.567G>A (p.Gly189Arg) | Missense | <0.01% | Impaired COPII binding, linked to NTDs |
| c.2345_2346del (p.Leu782fs) | Frameshift | <0.01% | Truncated protein, loss of function |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations lead to truncated or absent SEC24B protein, disrupting COPII vesicle formation and cargo transport.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Missense variants may interfere with COPII complex assembly, acting in a dominant-negative manner.
View complete mutation data：
Gene Ontology (GO)
| • COPII vesicle coat | • ER to Golgi vesicle-mediated transport |
| • protein transport | • GTPase binding |
| • membrane |
Pathways
• COPII-mediated vesicle transport
• ER-to-Golgi anterograde transport
• Protein processing in endoplasmic reticulum
Protein Summary
SEC24B is a 125 kDa protein that forms part of the COPII coat complex. It recognizes and packages cargo proteins into vesicles at the ER exit sites. The protein contains a conserved SEC24 domain and interacts with other COPII components (SEC23, SEC13, SEC31). Mutations in SEC24B cause defects in secretion of specific cargoes, leading to developmental disorders and liver disease.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC24B Knockout HEK293 Cell Line | EDJ-KQ7044 | Human | 10427 | Details Get a Quote |
| SEC24B Knockout A-549 Cell Line | EDJ-KQ30442 | Human | 10427 | Details Get a Quote |
| SEC24B Knockout HCT 116 Cell Line | EDJ-KQ31816 | Human | 10427 | Details Get a Quote |
| SEC24B Knockout HeLa Cell Line | EDJ-KQ31817 | Human | 10427 | Details Get a Quote |
