UNC13C
protein-codingunc-13 homolog C, the group of UNC13 homologs
Gene summary
Predicted to enable calmodulin binding activity. Predicted to be involved in glutamatergic synaptic transmission and regulated exocytosis. Predicted to be located in presynaptic active zone. Predicted to be active in several cellular components, including axon terminus; presynaptic membrane; and synaptic vesicle membrane. [provided by Alliance of Genome Resources, Jun 2026]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~650.5 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to UNC13C variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001080534.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 4 | 4 | ||||
| missense | 296 | 4 | 300 | |||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 3 | 3 | ||||
| Total | 0 | 0 | 300 | 8 | 0 | 308 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001074003.1 | 32 | MANE Select | |
| Ensembl | ENSP00000260323.11 | 32 | MANE Select | |
| RefSeq | NP_001316848.1 | 31 | Standard | |
| Ensembl | ENSP00000443886.2 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Synaptic vesicle cycle - Homo sapiens (human)
- Synaptic Vesicle Pathway
Biological Process
- chemical synaptic transmission
- neuromuscular junction development
- synaptic vesicle docking
- synaptic vesicle priming
- synaptic vesicle maturation
Molecular Function
- calcium ion binding
- calmodulin binding
- phospholipid binding
- syntaxin-1 binding
- diacylglycerol binding
Cellular Component
- plasma membrane
- cell junction
- synaptic vesicle membrane
- neuromuscular junction
- presynaptic membrane
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000260323
- Coding exons
- 32
- Length
- 615706
- Individuals with no LoFs
- 124574
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 143
- Defined
- 124717
- p
- 0.000573
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | -0.143 | 1105 | 1.09e+3 | 1.01 | 0.0000539 | 14553 |
| Missense (PolyPhen) | 384 | 409.8 | 0.93703 | 5508 | ||
| Synonymous | -1.50 | 429 | 391 | 1.10 | 0.0000197 | 4019 |
| Loss of Function | 5.53 | 44 | 105 | 0.418 | 0.00000580 | 1348 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0.00026 | 0.00026 | rare |
| Latino/Admixed American | 0.00028 | 0.00026 | rare |
| Ashkenazi Jewish | 0.00040 | 0.00040 | rare |
| East Asian | 0.0015 | 0.0014 | notable |
| Finnish | 0.00093 | 0.00093 | rare |
| European (Non-Finnish) | 0.00057 | 0.00056 | rare |
| South Asian | 0.00039 | 0.00039 | rare |
| Other | 0.00085 | 0.00083 | rare |
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: May play a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. May be involved in the regulation of synaptic transmission at parallel fiber - Purkinje cell synapses (By similarity). {ECO:0000250}.;
Recessive Scores
- pRec
- 0.0999
Intolerance Scores
- LoFtool
- 0.328
- RVIS EVS
- -1.67
- RVIS percentile EVS
- 2.7
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- N
- Indispensability score
- 0.154
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | High |
| Cancer | Medium | Medium | High |