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 have guanyl-nucleotide exchange factor activity. Involved in several processes, including swimming; swimming behavior; and thigmotaxis. Predicted to localize to autophagosome and endosome. Used to study amyotrophic lateral sclerosis. Human ortholog(s) of this gene implicated in FTDALS1. Is expressed in several structures, including central nervous system; heart; integument; liver; and pleuroperitoneal region. 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