C9orf72 - C9orf72, member of C9orf72-SMCR8 complex Gene

Also Known as Dennd9; 3110043O21Rik

Species: Mus musculus

Gene Type: protein coding

Gene ID: 73205

Summary

Enables small GTPase binding activity. Involved in several processes, including axon extension; late endosome to lysosome transport; and negative regulation of GTP binding activity. Located in several cellular components, including extracellular space; neuron projection; and perikaryon. Is expressed in several structures, including adipose tissue; alimentary system; nervous system; reproductive 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). [provided by Alliance of Genome Resources, Apr 2022]

C9orf72 Products (2)

mRNA	Protein	Name
NM_001081343.2	NP_001074812.1	guanine nucleotide exchange factor C9orf72 homolog isoform 1
NM_028466.2	NP_082742.2	guanine nucleotide exchange factor C9orf72 homolog isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables protein binding	IPI IPI: Inferred from physical interaction	24549040	MGI
enables small GTPase binding	IPI IPI: Inferred from physical interaction	24549040	MGI

Biological Process GO Annotation	Evidence	References	Source
involved in axon extension	IMP IMP: Inferred from mutant phenotype	27723745	MGI
involved in late endosome to lysosome transport	IMP IMP: Inferred from mutant phenotype	26989253	MGI
involved in negative regulation of GTP binding	IMP IMP: Inferred from mutant phenotype	27723745	MGI
involved in negative regulation of protein phosphorylation	IMP IMP: Inferred from mutant phenotype	27723745	MGI
involved in regulation of TORC1 signaling	IMP IMP: Inferred from mutant phenotype	27875531	MGI
involved in regulation of actin filament organization	IMP IMP: Inferred from mutant phenotype	27723745	MGI
involved in regulation of autophagy	IMP IMP: Inferred from mutant phenotype	27193190	MGI
involved in regulation of protein localization	IMP IMP: Inferred from mutant phenotype	31651360	MGI
involved in regulation of synaptic vesicle cycle	IDA IDA: Inferred from direct assay	35876881	MGI

Cellular Component GO Annotation	Evidence	References	Source
located in cytoplasm	IDA IDA: Inferred from direct assay	24549040	MGI
located in extracellular space	IDA IDA: Inferred from direct assay	24549040	MGI
is active in glutamatergic synapse	IDA IDA: Inferred from direct assay	31651360	MGI
is active in glutamatergic synapse	IEP IEP: Inferred from expression pattern	31651360	MGI
is active in hippocampal mossy fiber to CA3 synapse	IDA IDA: Inferred from direct assay	31651360	MGI
is active in hippocampal mossy fiber to CA3 synapse	IEP IEP: Inferred from expression pattern	31651360	MGI
located in neuron projection	IDA IDA: Inferred from direct assay	26408000	MGI
located in nucleus	IDA IDA: Inferred from direct assay	24549040	MGI
located in perikaryon	IDA IDA: Inferred from direct assay	26408000	MGI
is active in postsynapse	IDA IDA: Inferred from direct assay	31651360	MGI
located in postsynapse	IDA IDA: Inferred from direct assay	31651360	MGI
is active in postsynapse	IEP IEP: Inferred from expression pattern	31651360	MGI
located in presynapse	IDA IDA: Inferred from direct assay	31651360	MGI

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

Protein Preferred Names	Protein Names
guanine nucleotide exchange factor C9orf72 homolog guanine nucleotide exchange C9orf72 homolog	protein C9orf72 homolog

Protein Preferred Names

Protein Names

guanine nucleotide exchange factor C9orf72 homolog

guanine nucleotide exchange C9orf72 homolog

protein C9orf72 homolog

Related Agents

Clinical Phase
Pre-clinical Phase

Clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Phase
HY-132581	Tadnersen	Inhibitor	99.30%	Phase 3

Pre-clinical Phase

Bioactive Molecules (9)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153898	rTRD01	Ligand	99.10%	Unkown
HY-132581A	Tadnersen sodium	Inhibitor	99.30%	Unkown
HY-132581E	Scrambled Tadnersen	Control	/	Unkown
HY-132581C	Scrambled Tadnersen sodium	Control	/	Unkown
HY-141878	di-Ellipticine-RIBOTAC		/	Unkown
HY-141878A	di-Ellipticine-RIBOTAC TFA		/	Unkown
HY-172902	RNA binder 1		/	Unkown
HY-RS01760	C9orf72 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21991	C9orf72 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Homo sapiens	C9orf72	NCBI	NCBI:203228