Gene
zgc:100846
- ID
- ZDB-GENE-040801-47
- Name
- zgc:100846
- Symbol
- zgc:100846 Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 13 Mapping Details/Browsers
- Description
- Predicted to enable guanyl-nucleotide exchange factor activity. Acts upstream of or within several processes, including swimming; swimming behavior; and thigmotaxis. Predicted to be active in autophagosome and endosome. Is expressed in several structures, including central nervous system; heart; integument; liver; and pleuroperitoneal region. Used to study amyotrophic lateral sclerosis. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis-1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 6 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
-
- IMAGE:7139850 (2 images)
Wild Type Expression Summary
- All Phenotype Data
- 13 figures from 3 publications
- 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 1 | Alliance | Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 | 105550 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Family | IPR027819 | Guanine nucleotide exchange factor C9orf72 |
Domain Details Per Protein
| Protein | Length | Guanine nucleotide exchange factor C9orf72 |
|---|---|---|
|
UniProtKB:Q6TLH8
|
462 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| mRNA |
zgc:100846-201
(1)
|
Ensembl | 2,427 nt |
Interactions and Pathways
No data available
Plasmids
No data available