NEFM Gene Summary [Human]

Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the medium neurofilament protein. This protein is commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008]

Details

Type
Protein Coding
Official Symbol
NEFM
Official Name
neurofilament medium [Source:HGNC Symbol;Acc:HGNC:7734]
Ensembl ID
ENSG00000104722
Bio databases IDs NCBI: 4741 Ensembl: ENSG00000104722
Aliases neurofilament medium, neurofilament medium chain
Synonyms NEF3, neurofilament medium chain, neurofilament, medium polypeptide, Neurofilament triplet m, Nf145, NF-150KD, NF160, NF165, NF-M
Species
Human, Homo sapiens
OrthologiesMouseRat

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 human NEFM often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
  • Intermediate filament head (DNA binding) region
  • microtubule binding
  • binding protein
  • structural constituent of cytoskeleton
  • Autophagy protein ATG17-like domain
  • Lys-Ser-Pro repeat
  • tail domain
  • protein binding
  • receptor binding
  • Intermediate filament protein
  • toxin binding

Pathways

Biological processes and signaling networks where the NEFM gene in human 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
  • pancreatic cancer
  • schizophrenia
  • ductal breast carcinoma
  • ductal breast cancer
  • hypothyroidism
  • paralysis
  • early onset osteoarthritis
  • myelin oligodendrocyte glycoprotein induced experimental autoimmune encephalomyelitis
  • amyotrophic lateral sclerosis
  • motor neuron disease
regulated by
regulates
  • cyclic AMP
  • aldosterone
  • DRD1/5
  • Neurofilament
  • MAPT
  • DRD1
  • Sch-23390
role in cell
  • quantity
  • growth
  • survival
  • accumulation
  • degeneration
  • development
  • number
  • organization
  • clustering
  • assembly

Subcellular Expression

Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
  • Plasma Membrane
  • myelin enriched fraction
  • soluble fraction
  • postsynaptic density (PSD) fractions
  • intermediate filament cytoskeleton
  • cytoskeleton
  • Cytoplasm
  • intracellular space
  • cellular membrane
  • intermediate filaments
  • neurofilaments
  • neuromuscular junctions
  • neurites
  • fibrils
  • membrane processes
  • perikaryon
  • axons
  • dendrites
  • postsynaptic density

Gene Ontology Annotations

Describes the biological processes, cellular components, and molecular functions associated with the human NEFM gene, providing context for its role in the cell.

Biological Process

Functions and activities the gene product is involved in
  • neurofilament bundle assembly

Cellular Component

Where in the cell the gene product is active
  • intermediate filament cytoskeleton
  • cytoplasm
  • intermediate filament
  • neurofilament
  • axon

Molecular Function

What the gene product does at the molecular level
  • protein binding
  • structural constituent of cytoskeleton
  • microtubule binding

Gene-Specific Assays for Results You Can Trust

Streamline your workflow with assays designed for this gene. Our targeted dPCR and qPCR assays help you generate meaningful data – efficiently and accurately.