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 localize to ESCRT III complex and multivesicular body. Human ortholog(s) of this gene implicated in amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 17; 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