Nefh Gene Summary [Mouse]
A structural constituent of postsynaptic intermediate filament cytoskeleton. Involved in axon development and postsynaptic modulation of chemical synaptic transmission. Acts upstream of or within cellular response to leukemia inhibitory factor; cytoskeleton organization; and peripheral nervous system neuron axonogenesis. Located in axon; neurofilament; and postsynaptic density. Is active in Schaffer collateral - CA1 synapse and postsynaptic intermediate filament cytoskeleton. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2CC; amyotrophic lateral sclerosis; amyotrophic lateral sclerosis type 1; and monoclonal gammopathy of uncertain significance. Orthologous to human NEFH (neurofilament heavy chain). [provided by Alliance of Genome Resources, Jul 2025]
Details
| Type | Protein Coding |
| Official Symbol | Nefh |
| Official Name | neurofilament, heavy polypeptide [Source:MGI Symbol;Acc:MGI:97309] |
| Ensembl ID | ENSMUSG00000020396 |
| Bio databases IDs | |
| Aliases | neurofilament, heavy polypeptide |
| Synonyms | CMT2CC, mKIAA0845, N52, Neurofilament H, neurofilament heavy chain, neurofilament, heavy polypeptide, NF200, Nf220, NF-H, SMI32 |
| 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 Nefh often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Family of unknown function (DUF5585)
- protein kinase binding
- protein binding activity, bridging
- protein binding
- Repeat of unknown function (DUF1388)
- kinesin binding
- microtubule binding
- binding protein
- structural constituent of cytoskeleton
- Lys-Ser-Pro repeat
- Domain of unknown function (DUF4775)
- tail domain
- Intermediate filament protein
- structural molecule
- rod domain
- toxin binding
Pathways
Biological processes and signaling networks where the Nefh 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
- amyotrophic lateral sclerosis
- weight loss
- atresia
- sporadic amyotrophic lateral sclerosis
- androgenic alopecia
- motor neuron disease
- Alzheimer disease
- hereditary disorder
- paralysis
- susceptibility to amyotrophic lateral sclerosis
role in cell
- survival
- number
- formation
- accumulation
- quantity
- atrophy
- assembly
- degeneration
- dissociation
- density
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
- myelin enriched fraction
- soluble fraction
- postsynaptic density (PSD) fractions
- intermediate filament cytoskeleton
- cytoskeleton
- intracellular space
- somatodendritic region
- cellular membrane
- Nucleus
- intermediate filaments
- presynaptic membrane
- postsynaptic membrane
- neurofilaments
- growth cone
- neurites
- dendrite initial segments
- synapse
- membrane processes
- perikaryon
- axons
- dendrites
- postsynaptic density
- apical processes
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the mouse Nefh gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- neurofilament bundle assembly
- neurofilament cytoskeleton organization
- axonogenesis
- cell projection assembly
- intermediate filament bundle assembly
- microtubule cytoskeleton organization
- peripheral nervous system neuron axonogenesis
Cellular Component
Where in the cell the gene product is active
- postsynaptic density
- cytoskeleton
- cytoplasm
- neurofilament
- axon
Molecular Function
What the gene product does at the molecular level
- protein kinase binding
- protein binding
- kinesin binding
- structural constituent of cytoskeleton
- dynein complex binding
- protein binding, bridging
- microtubule binding