Gene
chmp2bb
- ID
- ZDB-GENE-040426-2539
- Name
- charged multivesicular body protein 2Bb
- Symbol
- chmp2bb Nomenclature History
- Previous Names
-
- chmp2bl
- zgc:77025
- Type
- protein_coding_gene
- Location
- Chr: 1 Mapping Details/Browsers
- Description
- Predicted to be involved in endosome transport via multivesicular body sorting pathway; late endosome to vacuole transport; and protein transport. Predicted to act upstream of or within vacuolar transport. Predicted to be located in cytosol and late endosome membrane. Predicted to be part of ESCRT III complex. Predicted to be active in multivesicular body. Is expressed in gut; nervous system; and trunk. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; chromosome 3-linked frontotemporal dementia; and frontotemporal dementia. Orthologous to human CHMP2B (charged multivesicular body protein 2B).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from Laboissonniere et al., 2018
- 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 |
|---|---|---|---|
| frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | Alliance | Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 | 600795 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR005024 | Snf7 family |
Domain Details Per Protein
| Protein | Length | Snf7 family |
|---|---|---|
|
UniProtKB:Q6NXD2
|
214 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
chmp2bb-201
(1)
|
Ensembl | 1,986 nt |
Interactions and Pathways
No data available
Plasmids
No data available