SEC16B: A Key Regulator of ER-to-Golgi Transport and Obesity Susceptibility
Comprehensive genomic and proteomic analysis of SEC16B, a component of the COPII vesicle coat involved in endoplasmic reticulum export and associated with body mass index.
Gene Information Card
| Symbol | SEC16B |
|---|---|
| Full Name | SEC16 homolog B, endoplasmic reticulum export factor |
| Gene Type | protein-coding |
| Chromosomal Location | 1q25.2 |
| NCBI Gene ID | 89866 ncbi.nlm.nih.gov/gene/89866 |
| Ensembl ID | ENSG00000120322 |
| UniProt ID | Q96JE7 |
| OMIM ID | 612855 |
| HGNC ID | 29000 |
| Aliases | SEC16L, KIAA1924, FLJ90013 |
Description
SEC16B (SEC16 homolog B) encodes a component of the COPII (coat protein complex II) vesicle coat that mediates the export of secretory and membrane proteins from the endoplasmic reticulum (ER). It functions as a scaffold protein at ER exit sites, interacting with other COPII components to facilitate vesicle budding and cargo selection. Genome-wide association studies have linked SEC16B variants to body mass index (BMI) and obesity susceptibility.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Obesity (susceptibility) | SEC16B variants (e.g., rs574367) are associated with increased BMI, likely through altered ER-to-Golgi transport affecting adipocyte function or energy homeostasis. | GWAS (PMID: 19079260, 20935630) |
| Type 2 diabetes | SEC16B variants associated with obesity may indirectly increase risk for type 2 diabetes via BMI effects. | GWAS meta-analysis (PMID: 20935630) |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Adipose tissue | 12.3 | Medium |
| Brain | 8.7 | Low |
| Liver | 15.1 | Medium |
| Pancreas | 10.2 | Medium |
| Small intestine | 18.5 | High |
| Testis | 22.4 | High |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 14.2 | Cervical adenocarcinoma |
| HepG2 | 16.8 | Hepatocellular carcinoma |
| HEK 293 | 11.5 | Embryonic kidney |
| K562 | 9.3 | Chronic myelogenous leukemia |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| rs574367 (G>T) | SNV (intronic) | 0.20 (T allele frequency in Europeans) | Associated with increased BMI in GWAS; functional effect unknown. |
| rs543874 (G>A) | SNV (intronic) | 0.19 (A allele frequency in Europeans) | Associated with obesity; may affect SEC16B expression. |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease; experimental knockdown in cell lines impairs COPII vesicle formation.
Gain of Function (GOF)
Not described.
Dominant Negative (DN)
Not described.
View complete mutation data：
Gene Ontology (GO)
Pathways
• COPII-mediated vesicle transport (Reactome: R-HSA-204005)
• ER-to-Golgi anterograde transport (Reactome: R-HSA-199977)
Protein Summary
SEC16B is a 1,080-amino-acid protein (UniProt Q96JE7) that localizes to ER exit sites and serves as a scaffold for COPII coat assembly. It interacts with SEC23/SEC24 complexes and SAR1 GTPase to regulate vesicle budding. The protein contains a conserved SEC16 domain and is essential for efficient ER export of large cargoes such as procollagen. Expression is highest in testis and small intestine, with moderate levels in liver and adipose tissue.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| SEC16B Knockout HEK293 Cell Line | EDJ-KQ10527 | Human | 89866 | Details Get a Quote |
| SEC16B Knockout A-549 Cell Line | EDJ-KQ37948 | Human | 89866 | Details Get a Quote |
| SEC16B Knockout HeLa Cell Line | EDJ-KQ57744 | Human | 89866 | Details Get a Quote |
| SEC16B Knockout HCT 116 Cell Line | EDJ-KQ74661 | Human | 89866 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
