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Aliases for NEFM Gene

Aliases for NEFM Gene

  • Neurofilament Medium 2 3 5
  • Neurofilament, Medium Polypeptide 150kDa 2 3
  • Neurofilament Triplet M Protein 3 4
  • 160 KDa Neurofilament Protein 3 4
  • Neurofilament 3 3 4
  • NEF3 3 4
  • NF-M 3 4
  • NFM 3 4
  • Neurofilament, Medium Polypeptide 2
  • Neurofilament Medium Polypeptide 3
  • Neurofilament-3 (150 KD Medium) 3

External Ids for NEFM Gene

Previous HGNC Symbols for NEFM Gene

  • NEF3

Previous GeneCards Identifiers for NEFM Gene

  • GC08P024828
  • GC08P023315
  • GC08P024770

Summaries for NEFM Gene

Entrez Gene Summary for NEFM Gene

  • 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]

GeneCards Summary for NEFM Gene

NEFM (Neurofilament Medium) is a Protein Coding gene. Diseases associated with NEFM include Pineal Parenchymal Tumor Of Intermediate Differentiation and Wallerian Degeneration. Among its related pathways are Amyotrophic lateral sclerosis (ALS) and Neural Stem Cell Differentiation Pathways and Lineage-specific Markers. Gene Ontology (GO) annotations related to this gene include structural molecule activity and structural constituent of cytoskeleton. An important paralog of this gene is NEFH.

UniProtKB/Swiss-Prot for NEFM Gene

  • Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.

Gene Wiki entry for NEFM Gene

Additional gene information for NEFM Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for NEFM Gene

Genomics for NEFM Gene

GeneHancer (GH) Regulatory Elements for NEFM Gene

Promoters and enhancers for NEFM Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH08J024912 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 650.7 +1.3 1262 3.1 CTCF MXI1 KLF1 USF1 MAX SIN3A YY1 ZNF335 ZFHX2 ZNF366 ENSG00000272163 NEFM LOC105379329
GH08J024998 Enhancer 1.5 FANTOM5 Ensembl ENCODE 29.3 +87.1 87088 3.7 SIN3A FEZF1 ZNF2 BRCA1 GLIS2 ZNF143 KLF7 DEK RXRA TSHZ1 NEFM ENSG00000253476 ENSG00000253535 LOC105379330 GC08M024931
GH08J024941 Enhancer 1.1 FANTOM5 Ensembl ENCODE 26.5 +29.1 29103 1.4 KLF1 SP3 SP2 ZNF398 ZNF335 ZFHX2 ZNF366 POLR2A GLIS1 WT1 NEFM ENSG00000253535 NEFL PIR55047 LOC105379329 GC08M024931
GH08J024955 Promoter/Enhancer 1.6 EPDnew Ensembl ENCODE 11.7 +43.0 42974 2 ARNT SIN3A FEZF1 GLI4 ZNF2 BRCA1 YY1 ZNF121 GLIS2 ZNF213 NEFL ENSG00000272157 PIR37905 NEFM ENSG00000253535 GC08M024931
GH08J025072 Enhancer 0.8 Ensembl ENCODE 15.3 +160.9 160929 3.1 ZNF211 ZBTB6 JUN BACH1 SP1 FOSL2 NFE2 MAFK NFE2L2 NEFM ENSG00000253535 GC08M024931 PIR41590
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around NEFM on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the NEFM gene promoter:
  • Sox5
  • SREBP-1c
  • SREBP-1b
  • SREBP-1a
  • Cdc5

Genomic Locations for NEFM Gene

Genomic Locations for NEFM Gene
6,087 bases
Plus strand
6,083 bases
Plus strand

Genomic View for NEFM Gene

Genes around NEFM on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
NEFM Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for NEFM Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for NEFM Gene

Proteins for NEFM Gene

  • Protein details for NEFM Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Neurofilament medium polypeptide
    Protein Accession:
    Secondary Accessions:
    • B4DGN2
    • E9PBF7
    • Q4QRK6

    Protein attributes for NEFM Gene

    916 amino acids
    Molecular mass:
    102472 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for NEFM Gene


neXtProt entry for NEFM Gene

Post-translational modifications for NEFM Gene

  • There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif. It is thought that phosphorylation of NFM results in the formation of interfilament cross bridges that are important in the maintenance of axonal caliber.
  • Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the neurofilament function.
  • Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.
  • Glycosylation at isoforms=2431 and isoforms=47
  • Ubiquitination at Lys875, isoforms=2871, isoforms=2451, Lys271, isoforms=263, and isoforms=118
  • Modification sites at PhosphoSitePlus

Other Protein References for NEFM Gene

No data available for DME Specific Peptides for NEFM Gene

Domains & Families for NEFM Gene

Gene Families for NEFM Gene

Human Protein Atlas (HPA):
  • Plasma proteins
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for NEFM Gene

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the intermediate filament family.
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with NEFM: view

Function for NEFM Gene

Molecular function for NEFM Gene

UniProtKB/Swiss-Prot Function:
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.

Phenotypes From GWAS Catalog for NEFM Gene

Gene Ontology (GO) - Molecular Function for NEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005200 structural constituent of cytoskeleton TAS 3608989
GO:0005515 protein binding IPI 20195357
GO:0008017 microtubule binding TAS 17498690
genes like me logo Genes that share ontologies with NEFM: view
genes like me logo Genes that share phenotypes with NEFM: view

Animal Model Products

CRISPR Products

miRNA for NEFM Gene

miRTarBase miRNAs that target NEFM

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEFM

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for NEFM Gene

Localization for NEFM Gene

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for NEFM gene
Compartment Confidence
cytoskeleton 5
nucleus 4
cytosol 4

Subcellular locations from the

Human Protein Atlas (HPA)
  • Intermediate filaments (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for NEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005882 intermediate filament IEA --
GO:0005883 neurofilament IEA --
GO:0030424 axon TAS 14662745
GO:0045111 intermediate filament cytoskeleton IDA --
GO:0097418 neurofibrillary tangle IDA 21828286
genes like me logo Genes that share ontologies with NEFM: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot for NEFM Gene

Pathways & Interactions for NEFM Gene

genes like me logo Genes that share pathways with NEFM: view

Pathways by source for NEFM Gene

1 Cell Signaling Technology pathway for NEFM Gene

Gene Ontology (GO) - Biological Process for NEFM Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0033693 neurofilament bundle assembly TAS 17498690
GO:0061564 axon development IEA --
genes like me logo Genes that share ontologies with NEFM: view

No data available for SIGNOR curated interactions for NEFM Gene

Drugs & Compounds for NEFM Gene

(4) Drugs for NEFM Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(6) Additional Compounds for NEFM Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with NEFM: view

Transcripts for NEFM Gene

mRNA/cDNA for NEFM Gene

Unigene Clusters for NEFM Gene

Neurofilament, medium polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for NEFM

Alternative Splicing Database (ASD) splice patterns (SP) for NEFM Gene

No ASD Table

Relevant External Links for NEFM Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for NEFM Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for NEFM Gene

mRNA differential expression in normal tissues according to GTEx for NEFM Gene

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x9.6), Brain - Cortex (x7.1), Brain - Anterior cingulate cortex (BA24) (x6.7), Brain - Hippocampus (x4.7), and Brain - Substantia nigra (x4.5).

Protein differential expression in normal tissues from HIPED for NEFM Gene

This gene is overexpressed in Spinal cord (36.7), Frontal cortex (17.8), and Brain (10.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for NEFM Gene

Protein tissue co-expression partners for NEFM Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NEFM Gene:


SOURCE GeneReport for Unigene cluster for NEFM Gene:


Evidence on tissue expression from TISSUES for NEFM Gene

  • Nervous system(5)
  • Eye(4.5)
  • Kidney(4.5)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with NEFM: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for NEFM Gene

Orthologs for NEFM Gene

This gene was present in the common ancestor of animals.

Orthologs for NEFM Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia NEFM 34 33
  • 96.67 (n)
(Mus musculus)
Mammalia Nefm 34
  • 91 (a)
(Bos Taurus)
Mammalia NEF3 34
  • 88 (a)
  • 85.44 (n)
(Canis familiaris)
Mammalia NEFM 34 33
  • 85.08 (n)
(Monodelphis domestica)
Mammalia NEFM 34
  • 74 (a)
(Ornithorhynchus anatinus)
Mammalia NEFM 34
  • 74 (a)
(Gallus gallus)
Aves NEFM 34
  • 68 (a)
(Anolis carolinensis)
Reptilia NEFM 34
  • 60 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC397994 33
(Danio rerio)
Actinopterygii nefma 34
  • 52 (a)
(Caenorhabditis elegans)
Secernentea ifa-4 34
  • 20 (a)
mua-6 34
  • 19 (a)
ifa-3 34
  • 18 (a)
ifa-1 34
  • 18 (a)
ifb-1 34
  • 18 (a)
ifd-1 34
  • 17 (a)
ifb-2 34
  • 17 (a)
ifd-2 34
  • 17 (a)
ifc-1 34
  • 16 (a)
ifc-2 34
  • 9 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.10989 34
  • 33 (a)
-- 34
  • 33 (a)
-- 34
  • 30 (a)
CSA.8134 34
  • 29 (a)
Species where no ortholog for NEFM was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rat (Rattus norvegicus)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for NEFM Gene

Gene Tree for NEFM (if available)
Gene Tree for NEFM (if available)
Evolutionary constrained regions (ECRs) for NEFM: view image

Paralogs for NEFM Gene

Paralogs for NEFM Gene

(41) SIMAP similar genes for NEFM Gene using alignment to 4 proteins:

  • A5YM63_HUMAN
  • E7ESP9_HUMAN Pseudogenes for NEFM Gene

genes like me logo Genes that share paralogs with NEFM: view

Variants for NEFM Gene

Sequence variations from dbSNP and Humsavar for NEFM Gene

SNP ID Clin Chr 08 pos Variation AA Info Type
rs196863 not-provided, not provided 24,918,029(+) C/A coding_sequence_variant, missense_variant
rs56902012 not-provided, not provided 24,914,799(+) G/A/C coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant
rs57294395 not-provided, not provided 24,918,118(+) G/T coding_sequence_variant, missense_variant
rs57658073 not-provided, not provided 24,918,427(+) G/A coding_sequence_variant, missense_variant
rs57688534 not-provided, not provided 24,914,630(+) C/A coding_sequence_variant, genic_upstream_transcript_variant, missense_variant, upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for NEFM Gene

Variant ID Type Subtype PubMed ID
esv3616666 OTHER inversion 21293372
esv3891377 CNV loss 25118596

Variation tolerance for NEFM Gene

Residual Variation Intolerance Score: 30.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.55; 44.35% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for NEFM Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for NEFM Gene

Disorders for NEFM Gene

MalaCards: The human disease database

(5) MalaCards diseases for NEFM Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
pineal parenchymal tumor of intermediate differentiation
  • pineal parenchymal tumour of intermediate differentiation
wallerian degeneration
  • wallerian degeneration of the pyramidal tract
motor neuron disease
  • motor neuron diseases
charcot-marie-tooth disease
  • charcot marie tooth muscular atrophy
amyotrophic lateral sclerosis 1
  • als1
- elite association - COSMIC cancer census association via MalaCards
Search NEFM in MalaCards View complete list of genes associated with diseases

Additional Disease Information for NEFM

Genetic Association Database
Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with NEFM: view

No data available for UniProtKB/Swiss-Prot and Genatlas for NEFM Gene

Publications for NEFM Gene

  1. Association of the dopamine receptor interacting protein gene, NEF3, with early response to antipsychotic medication. (PMID: 16734940) Strous RD … Lerer B (The international journal of neuropsychopharmacology 2007) 3 44 58
  2. Mutation analysis of the neurofilament M gene in Parkinson's disease. (PMID: 14583397) Krüger R … Schöls L (Neuroscience letters 2003) 3 22 58
  3. RFLP for BgI II at the human neurofilament medium chain (NEF3) gene locus. (PMID: 1348579) Ding Y … Price RA (Nucleic acids research 1992) 2 3 58
  4. Identification of the major multiphosphorylation site in mammalian neurofilaments. (PMID: 2450354) Lee VM … Lazzarini RA (Proceedings of the National Academy of Sciences of the United States of America 1988) 3 4 58
  5. The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. (PMID: 3608989) Myers MW … Nelson DL (The EMBO journal 1987) 3 4 58

Products for NEFM Gene

Sources for NEFM Gene

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