HomeAboutRankingsData Sources
© 2026 GeneE
🧬
GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
ⓘGeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
NEFM
neurofilament medium chain
Chromosome 8 · 8p21.2
NCBI Gene: 4741Ensembl: ENSG00000104722.14HGNC: HGNC:7734UniProt: P07197
98PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingintermediate filament cytoskeletonneurofibrillary tangleintermediate filamentneurodegenerative diseasefacial painneutropeniaAbruptio Placentae
✦AI Summary

NEFM (neurofilament medium chain) is a major cytoskeletal protein that forms part of the neurofilament triad alongside NEFL and NEFH, functioning to determine axonal caliber, promote axonal growth, and organize cytoplasmic organelles within myelinated axons 1. NEFM maintains structural integrity of the neuronal cytoskeleton and participates in neurofilament bundle assembly through protein-protein interactions 1. In pathological contexts, dysregulated NEFM expression contributes to multiple neurodegenerative conditions. In amyotrophic lateral sclerosis (ALS), altered stoichiometry of neurofilament subunits—driven by dysregulated ALS-linked miRNAs that suppress NEFM transcript levels—leads to neuronal cytoplasmic inclusions and axonal degeneration 1. NEFM variants affecting phosphorylation have been identified in hereditary cerebellar ataxia, where neurofilament aggregation correlates with neurodegeneration 2. In progressive supranuclear palsy, reduced NEFM levels in cerebrospinal fluid serve as a potential biomarker distinguishing the disease from Parkinson's disease and healthy controls 3. Additionally, NEFM upregulation occurs in thyroid eye disease orbital tissues, contributing to nerve injury pathology 4. Clinically, NEFM shows promise as a diagnostic and prognostic biomarker. High NEFM expression correlates with improved overall and recurrence-free survival in breast cancer, with expression positively associating with immune infiltration 5. NEFM also functions as a key diagnostic biomarker for periodontitis in machine learning-based frameworks 6, and neuroprotective interventions can upregulate NEFM expression to promote neuronal health 7.

Sources cited
1
NEFM function in determining axonal caliber and promoting axonal growth; dysregulation in ALS causing neuronal cytoplasmic inclusions through altered stoichiometry
PMID: 30029677
2
NEFM as a cerebrospinal fluid biomarker candidate for progressive supranuclear palsy with high discriminatory performance
PMID: 39342078
3
NEFM upregulation in thyroid eye disease orbital tissues correlating with nerve injury pathology
PMID: 41361348
4
NEFM expression correlating with improved survival and immune infiltration in breast cancer
PMID: 34001208
5
NEFM as a diagnostic biomarker for periodontitis using machine learning approaches
PMID: 41265166
6
NEFM upregulation by neuroprotective compounds promoting neurofilament growth and neuronal health
PMID: 37572635
7
NEFM variants dysregulating phosphorylation and neurofilament aggregation in hereditary cerebellar ataxia
PMID: 41913087
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.38Weak
facial painOpen Targets
0.27Weak
neutropeniaOpen Targets
0.26Weak
Abruptio PlacentaeOpen Targets
0.25Weak
mathematical abilityOpen Targets
0.24Weak
ovarian dysfunctionOpen Targets
0.22Weak
respiratory tract infectious disorderOpen Targets
0.20Weak
amyotrophic lateral sclerosisOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
breast carcinomaOpen Targets
0.08Suggestive
liver diseaseOpen Targets
0.08Suggestive
ThymomaOpen Targets
0.08Suggestive
Mungan syndromeOpen Targets
0.07Suggestive
preeclampsiaOpen Targets
0.06Suggestive
Lewy body dementiaOpen Targets
0.06Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.05Suggestive
hereditary neuropathy with liability to pressure palsiesOpen Targets
0.05Suggestive
astrocytomaOpen Targets
0.05Suggestive
carpal tunnel syndromeOpen Targets
0.05Suggestive
childhood supratentorial ependymomaOpen Targets
0.05Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
INAProtein interaction100%KIF5BProtein interaction94%KIF5CProtein interaction94%KIF5AProtein interaction94%KLC1Protein interaction92%MAPK12Protein interaction92%
Tissue Expression6 tissues
Brain
100%
Ovary
0%
Lung
0%
Liver
0%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
NEFMINAKIF5BKIF5CKIF5AKLC1MAPK12
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt P07197
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.54Moderately Constrained
pLIⓘ
0.86Intermediate
Observed/Expected LoF0.37 [0.25–0.54]
RankingsWhere NEFM stands among ~20K protein-coding genes
  • #4,895of 20,598
    Most Researched98 · top quartile
  • #3,425of 17,882
    Most Constrained (LOEUF)0.54 · top quartile
Genes detectedNEFM
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Dysregulation of human NEFM and NEFH mRNA stability by ALS-linked miRNAs.
PMID: 30029677
Mol Brain · 2018
1.00
2
Regulatory Role of Insulin on Endogenous L1 ORF1 and NEFM Gene Expression through PI3K Signaling Pathway Specifically in Neuroblastoma Cell Line.
PMID: 37124903
Iran J Public Health · 2023
0.90
3
Biomarker discovery in progressive supranuclear palsy from human cerebrospinal fluid.
PMID: 39342078
Clin Proteomics · 2024
0.80
4
Transcriptome analysis of orbital tissue in thyroid eye disease uncovers key pathogenic mediators.
PMID: 41361348
Sci Rep · 2025
0.70
5
NEFM DNA methylation correlates with immune infiltration and survival in breast cancer.
PMID: 34001208
Clin Epigenetics · 2021
0.60