SEC31B: A Key Component of the COPII Vesicle Coat
SEC31B Gene - Structure, Function, and Clinical Significance
Gene Information Card
| Symbol | SEC31B |
|---|---|
| Full Name | SEC31 homolog B, COPII coat complex component |
| Gene Type | protein-coding |
| Chromosomal Location | 10q24.31 |
| NCBI Gene ID | 25956 ncbi.nlm.nih.gov/gene/25956 |
| Ensembl ID | ENSG00000148773 |
| UniProt ID | Q9Y6X2 |
| OMIM ID | 615344 |
| HGNC ID | 28967 |
| Aliases | SEC31L2, HSPC275, KIAA0905 |
Description
SEC31B encodes a component of the COPII (coat protein complex II) vesicle coat, which is essential for the transport of proteins from the endoplasmic reticulum to the Golgi apparatus. The protein forms a complex with SEC13 and other COPII components to mediate vesicle budding and cargo selection. SEC31B is ubiquitously expressed and plays a critical role in maintaining cellular homeostasis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Neurodevelopmental disorder with microcephaly and spasticity | Loss-of-function mutations in SEC31B impair COPII-mediated transport, leading to defective neuronal development and cortical malformations. | PMID: 32693026 |
| Intellectual disability | Homozygous missense variants in SEC31B have been associated with intellectual disability and developmental delay. | ClinVar: RCV001851636 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Liver | 8.3 | Low |
| Kidney | 7.1 | Low |
| Testis | 15.2 | Medium |
| Lung | 6.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 10.1 | Moderate expression |
| HeLa | 8.9 | Moderate expression |
| K562 | 5.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.133C>T (p.Arg45*) | Nonsense | Rare | Loss of function; predicted to cause nonsense-mediated decay |
| c.1045G>A (p.Gly349Arg) | Missense | Rare | Impaired COPII complex assembly |
Mutation functional classification
Loss of Function (LOF)
Nonsense and frameshift mutations leading to truncated protein or mRNA decay are classified as loss-of-function.
Gain of Function (GOF)
No gain-of-function mutations have been reported for SEC31B.
Dominant Negative (DN)
No dominant-negative mutations have been characterized for SEC31B.
View complete mutation data：
Gene Ontology (GO)
| • COPII vesicle coat | • endoplasmic reticulum to Golgi vesicle-mediated transport |
| • protein transport | • vesicle-mediated transport |
Pathways
• COPII-mediated vesicle transport (Reactome: R-HSA-204005)
• Endoplasmic reticulum to Golgi transport (KEGG: hsa04141)
Protein Summary
SEC31B is a 1220-amino-acid protein that functions as a structural component of the COPII coat. It contains a WD40 repeat domain and interacts with SEC13 and SAR1B to form the outer layer of the COPII vesicle. The protein is essential for the proper sorting and export of secretory and membrane proteins from the ER.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC31B Knockout HEK293 Cell Line | EDJ-KQ8323 | Human | 25956 | Details Get a Quote |
| SEC31B Knockout A-549 Cell Line | EDJ-KQ32992 | Human | 25956 | Details Get a Quote |
| SEC31B Knockout HCT 116 Cell Line | EDJ-KQ34317 | Human | 25956 | Details Get a Quote |
| SEC31B Knockout HeLa Cell Line | EDJ-KQ34318 | Human | 25956 | Details Get a Quote |
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