Gene
unc13d
- ID
- ZDB-GENE-110411-188
- Name
- unc-13 homolog D (C. elegans)
- Symbol
- unc13d Nomenclature History
- Previous Names
-
- si:ch211-140l3.2
- Type
- protein_coding_gene
- Location
- Chr: 12 Mapping Details/Browsers
- Description
- Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 3. Orthologous to human UNC13D (unc-13 homolog D).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hemophagocytic lymphohistiocytosis 3 | Alliance | Hemophagocytic lymphohistiocytosis, familial, 3 | 608898 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | C2 domain | C2 domain superfamily | Mammalian uncoordinated homology 13, domain 2 | Munc13 homology 1 | MUN domain |
|---|---|---|---|---|---|---|
|
UniProtKB:F6NFN1
|
1105 |
| Type | Name | Annotation Method | Length (nt) | Analysis |
|---|---|---|---|---|
| mRNA |
unc13d-201
(1)
|
Havana | 4008 nt | |
| mRNA |
unc13d-202
(1)
|
Havana | 773 nt |
Interactions and Pathways
No data available
Plasmids
No data available