C9orf72 Gene Summary [Mouse]
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). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | C9orf72 |
| Official Name | C9orf72, member of C9orf72-SMCR8 complex [Source:MGI Symbol;Acc:MGI:1920455] |
| Ensembl ID | ENSMUSG00000028300 |
| Bio databases IDs | |
| Aliases | C9orf72, member of C9orf72-SMCR8 complex |
| Synonyms | 3110043O21Rik, ALSFTD, C9orf72, member of C9orf72-SMCR8 complex, C9orf72-SMCR8 complex subunit, DENND9, DENNL72, FLJ11109, FTDALS, FTDALS1, RGD1359108, similar to RIKEN cDNA 3110043O21 |
| Species | Mouse, Mus musculus |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in mouse C9orf72 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- C9orf72-like protein family
- guanyl-nucleotide exchange factor
- Gly-Ala repeat
- enzyme binding
- GTPase activator
- protein binding
Pathways
Biological processes and signaling networks where the C9orf72 gene in mouse plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- sporadic amyotrophic lateral sclerosis
- amyotrophic lateral sclerosis
- frontotemporal dementia and/or amyotrophic lateral sclerosis type 1
- poor social function
- mood disorder
- susceptibility to amyotrophic lateral sclerosis
- familial amyotrophic lateral sclerosis
phenotypes
- abnormal spleen morphology
- acute inflammation
- cell death
- chronic inflammation
- decreased circulating insulin level
- decreased startle reflex
- decreased total body fat amount
- enlarged spleen
- epithelial hyperplasia
- hypergranulosis
- hyperplasia
- improved glucose tolerance
- increased lean body mass
- increased spleen weight
- inflammation
- lymphoid hyperplasia
- myeloid hyperplasia
- small testis
- abnormal celiac lymph node morphology
- abnormal cervical lymph node morphology
- abnormal circulating cytokine level
- abnormal circulating interleukin level
- abnormal lymph node cell ratio
- abnormal lymphocyte morphology
- abnormal macrophage physiology
- abnormal microglial cell physiology
- abnormal social investigation
- abnormal spinal cord grey matter morphology
- abnormal spinal cord white matter morphology
- ataxia
- brain inflammation
- cachexia
- decreased body weight
- decreased circulating interleukin-2 level
- decreased erythrocyte cell number
- decreased hematocrit
- decreased hemoglobin content
- decreased lymphocyte cell number
- decreased mean corpuscular volume
- dermatitis
- enlarged cervical lymph nodes
- enlarged liver
- enlarged lymph nodes
- impaired coordination
- increased CD4-positive CD25-positive alpha-beta regulatory T cell number
- increased IgG level
- increased IgM level
- increased anti-double stranded DNA antibody level
- increased autoantibody level
- increased leukocyte cell number
- increased neutrophil cell number
- increased splenocyte number
- increased susceptibility to autoimmune disorder
- internal hemorrhage
- liver inflammation
- lysosomal protein accumulation
- microcytic anemia
- premature death
- respiratory failure
- thrombocytopenia
role in cell
- cell death
- quantity
- expression in
- phosphorylation in
- autophagy by
- number
- extension
- survival
- morphology
- accumulation
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- glutaminergic synapse
- axon component
- intracellular membrane-bounded organelle
- cytoplasmic mRNA processing body
- presynaptic regions
- Extracellular Space
- postsynaptic region
- Nucleus
- endosomes
- lysosome
- Flemming body
- cytosol
- nuclear envelope
- neurites
- synapse
- autophagic vacuoles
- stress granule
- perikaryon
- dendrites
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse C9orf72 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- positive regulation of macroautophagy
- stress granule assembly
- axon extension
- regulation of protein localization
- autophagy
- negative regulation of protein phosphorylation
- regulation of autophagy
- regulation of autophagic vacuole assembly
- endocytosis
- positive regulation of GTPase activity
Cellular Component
Where in the cell the gene product is active
- cytoplasmic stress granule
- cytoplasmic mRNA processing body
- main axon
- perikaryon
- autophagic vacuole
- lysosome
- dendrite
- nucleus
- extracellular space
- nuclear membrane
- endosome
- axonal growth cone
- cytoplasm
- intracellular membrane-bounded organelle
- cytosol
- guanyl-nucleotide exchange factor complex
Molecular Function
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity
- small GTPase binding