Gene
stxbp2
- ID
- ZDB-GENE-040426-2482
- Name
- syntaxin binding protein 2
- Symbol
- stxbp2 Nomenclature History
- Previous Names
-
- zgc:85807
- Type
- protein_coding_gene
- Location
- Chr: 3 Mapping Details/Browsers
- Description
- Predicted to be involved in vesicle docking involved in exocytosis. Human ortholog(s) of this gene implicated in familial hemophagocytic lymphohistiocytosis 5. Is expressed in brain; epidermis; liver; periderm; and sensory system. Orthologous to human STXBP2 (syntaxin binding protein 2).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 7 figures from 2 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- MGC:85807 (8 images)
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 5 | Alliance | Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease | 613101 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Sec1-like, domain 1 | Sec1-like, domain 2 | Sec1-like, domain 3a | Sec1-like protein | Sec1-like superfamily |
|---|---|---|---|---|---|---|
|
UniProtKB:A0A8M9PTU9
|
343 | |||||
|
UniProtKB:Q6NUX6
|
595 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
stxbp2-201
(1)
|
Ensembl | 2,529 nt |
Interactions and Pathways
No data available
Plasmids
No data available