Gene Ontology Classifications

Symbol
Name
ID

C9orf72
C9orf72, member of C9orf72-SMCR8 complex
MGI:1920455

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Automated description from the Alliance of Genome Resources (Release 7.4.0)

Enables small GTPase binding activity. Involved in several processes, including axon extension; late endosome to lysosome transport; and regulation of synaptic vesicle cycle. Located in several cellular components, including extracellular space; perikaryon; and presynapse. Is active in glutamatergic synapse; hippocampal mossy fiber to CA3 synapse; and postsynapse. Is expressed in several structures, including adipose tissue; alimentary system; genitourinary system; nervous system; and sensory organ. Used to study autoimmune disease. Human ortholog(s) of this gene implicated in frontotemporal dementia and/or amyotrophic lateral sclerosis 1. Orthologous to human C9orf72 (C9orf72-SMCR8 complex subunit).

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Aspect

Category

Evidence

Gene Ontology Evidence Code Abbreviations:

Experimental:

EXP: Inferred from experiment
HMP: Inferred from high throughput mutant phenotype
HGI: Inferred from high throughput genetic interaction
HDA: Inferred from high throughput direct assay
HEP: Inferred from high throughput expression pattern
IDA: Inferred from direct assay
IEP: Inferred from expression pattern
IGI: Inferred from genetic interaction
IMP: Inferred from mutant phenotype
IPI: Inferred from physical interaction

Homology:

IAS: Inferred from ancestral sequence
IBA: Inferred from biological aspect of ancestor
IBD: Inferred from biological aspect of descendant
IKR: Inferred from key residues
IMR: Inferred from missing residues
IRD: Inferred from rapid divergence
ISA: Inferred from sequence alignment
ISM: Inferred from sequence model
ISO: Inferred from sequence orthology
ISS: Inferred from sequence or structural similarity

Automated:

IEA: Inferred from electronic annotation
RCA: Reviewed computational analysis

Other:

IC: Inferred by curator
NAS: Non-traceable author statement
ND: No biological data available
TAS: Traceable author statement

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Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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