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Gene

zgc:100846

ID
ZDB-GENE-040801-47
Name
zgc:100846
Symbol
zgc:100846 Nomenclature History
Previous Names
  • C9orf72 (1)
  • c13h9orf72 (1)
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
Expression
All Expression Data
5 figures from 2 publications
Cross-Species Comparison
High Throughput Data
Thisse Expression Data
Wild Type Expression Summary
Phenotype
All Phenotype Data
11 figures from 2 publications
Cross-Species Comparison
Alliance
Phenotype Summary
Mutations
Mutants
Sequence Targeting Reagents
Human Disease
Associated With zgc:100846 Human Ortholog
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
Associated With zgc:100846 Via Experimental Models
Gene Ontology
Protein Domains
Domain, Family, and Site Summary
Type InterPro ID Name
Family IPR027819 Guanine nucleotide exchange C9orf72
Domain Details Per Protein
Protein Length Guanine nucleotide exchange C9orf72
UniProtKB:Q6DEI5 326
UniProtKB:Q6TLH8 462
Transcripts
Genome Browsers
Interactions and Pathways
No data available
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Citations