UNC13B Gene
unc-13 homolog B (C. elegans)
Gene Information Card
| Symbol | UNC13B |
|---|---|
| Full Name | unc-13 homolog B (C. elegans) |
| Gene Type | protein-coding |
| Chromosomal Location | 9p13.3 |
| NCBI Gene ID | 10497 ncbi.nlm.nih.gov/gene/10497 |
| Ensembl ID | ENSG00000107175 |
| UniProt ID | O14795 |
| OMIM ID | 608837 |
| HGNC ID | 12566 |
| Aliases | Munc13-2, Unc13h2, FLJ10895 |
Description
UNC13B encodes a member of the UNC13 family of proteins, which are involved in vesicle maturation and neurotransmitter release at synapses. The protein, Munc13-2, acts as a priming factor for synaptic vesicle exocytosis and is essential for calcium-dependent neurotransmitter release. It is also implicated in insulin secretion from pancreatic beta cells.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Diabetes mellitus, non-insulin-dependent (type 2) | UNC13B variants may impair insulin secretion by affecting vesicle priming in pancreatic beta cells. | ClinVar, NCBI Gene |
| Epilepsy | Altered UNC13B function can disrupt synaptic transmission, contributing to seizure susceptibility. | OMIM, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 12.5 | Medium |
| Pancreas | 8.2 | Medium |
| Testis | 6.1 | Low |
| Adrenal gland | 5.3 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| SH-SY5Y (neuroblastoma) | 10.1 | Neuronal model |
| MIN6 (beta cell) | 9.8 | Pancreatic beta cell line |
| HeLa | 2.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.754C>T (p.Arg252Trp) | Missense | <0.01% | May alter protein stability and vesicle priming |
| c.1123G>A (p.Gly375Arg) | Missense | <0.01% | Reported in type 2 diabetes association studies |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in UNC13B impair synaptic vesicle priming and neurotransmitter release, potentially leading to neurological deficits.
Gain of Function (GOF)
No gain-of-function mutations have been characterized for UNC13B.
Dominant Negative (DN)
Dominant-negative effects have not been reported for UNC13B.
View complete mutation data：
Gene Ontology (GO)
| • synaptic vesicle priming | • calcium-dependent exocytosis |
| • neurotransmitter secretion | • protein binding |
| • zinc ion binding |
Pathways
• Synaptic vesicle cycle
• Neurotransmitter release
• Insulin secretion
Protein Summary
Munc13-2 (UNC13B) is a 1591-amino acid protein containing C1 and C2 domains that mediate diacylglycerol and calcium binding, respectively. It localizes to presynaptic active zones and pancreatic beta cells, where it primes vesicles for exocytosis. The protein is essential for short-term synaptic plasticity and glucose-stimulated insulin secretion.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| UNC13B Knockout HEK293 Cell Line | EDJ-KQ7064 | Human | 10497 | Details Get a Quote |
| UNC13B Knockout A-549 Cell Line | EDJ-KQ31876 | Human | 10497 | Details Get a Quote |
| UNC13B Knockout HCT 116 Cell Line | EDJ-KQ31877 | Human | 10497 | Details Get a Quote |
| UNC13B Knockout HeLa Cell Line | EDJ-KQ31878 | Human | 10497 | Details Get a Quote |
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