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Aliases for NEFL Gene

Aliases for NEFL Gene

  • Neurofilament Light 2 3 5
  • Protein Phosphatase 1, Regulatory Subunit 110 2 3
  • Neurofilament, Light Polypeptide 68kDa 2 3
  • Neurofilament Triplet L Protein 3 4
  • NF-L 3 4
  • NF68 3 4
  • NFL 3 4
  • Light Molecular Weight Neurofilament Protein 3
  • Neurofilament Protein, Light Chain 3
  • Neurofilament, Light Polypeptide 2
  • Neurofilament Light Polypeptide 3
  • 68 KDa Neurofilament Protein 4
  • Neurofilament Subunit NF-L 3
  • PPP1R110 3
  • CMT1F 3
  • CMT2E 3

External Ids for NEFL Gene

Previous GeneCards Identifiers for NEFL Gene

  • GC08M024543
  • GC08M025163
  • GC08M024629
  • GC08M024832
  • GC08M024866
  • GC08M023353
  • GC08M024808

Summaries for NEFL Gene

Entrez Gene Summary for NEFL Gene

  • Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains. Neurofilaments comprise the axoskeleton and they functionally maintain the neuronal caliber. They may also play a role in intracellular transport to axons and dendrites. This gene encodes the light chain neurofilament protein. Mutations in this gene cause Charcot-Marie-Tooth disease types 1F (CMT1F) and 2E (CMT2E), disorders of the peripheral nervous system that are characterized by distinct neuropathies. A pseudogene has been identified on chromosome Y. [provided by RefSeq, Oct 2008]

GeneCards Summary for NEFL Gene

NEFL (Neurofilament Light) is a Protein Coding gene. Diseases associated with NEFL include Charcot-Marie-Tooth Disease, Type 2E and Charcot-Marie-Tooth Disease, Type 1F. Among its related pathways are RET signaling and Innate Immune System. GO annotations related to this gene include identical protein binding and protein domain specific binding. An important paralog of this gene is NEFM.

UniProtKB/Swiss-Prot for NEFL 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 NEFL Gene

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

Genomics for NEFL Gene

Regulatory Elements for NEFL Gene

Enhancers for NEFL Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH08G024941 1.3 FANTOM5 Ensembl ENCODE 6.6 +15.0 14995 1.4 ZNF263 MAZ SP3 KLF1 SP2 ZNF398 ZFHX2 ZNF366 POLR2A SMARCA4 NEFM ENSG00000253535 NEFL PIR55047 LOC105379329
GH08G024955 1.2 Ensembl ENCODE 5.4 +1.1 1125 2.0 ARNT FEZF1 GLI4 BRCA1 ZNF2 ZNF121 GLIS2 KLF7 ZNF263 SP3 NEFM ENSG00000253535 NEFL ENSG00000272157 PIR37905
GH08G024766 0.3 FANTOM5 2.2 +190.2 190152 0.1 NEFL NEFM GC08M024686 PIR40819
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around NEFL on UCSC Golden Path with GeneCards custom track

Genomic Location for NEFL Gene

Chromosome:
8
Start:
24,950,955 bp from pter
End:
24,957,110 bp from pter
Size:
6,156 bases
Orientation:
Minus strand

Genomic View for NEFL Gene

Genes around NEFL on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for NEFL Gene

Proteins for NEFL Gene

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

    Protein Symbol:
    P07196-NFL_HUMAN
    Recommended name:
    Neurofilament light polypeptide
    Protein Accession:
    P07196
    Secondary Accessions:
    • B9ZVN2
    • Q16154
    • Q8IU72

    Protein attributes for NEFL Gene

    Size:
    543 amino acids
    Molecular mass:
    61517 Da
    Quaternary structure:
    • Interacts with ARHGEF28. Interacts with TRIM2.
    Miscellaneous:
    • NF-L is the most abundant of the three neurofilament proteins and, like the other nonepithelial intermediate filament proteins, it can form homopolymeric 10-nm filaments.

neXtProt entry for NEFL Gene

Post-translational modifications for NEFL Gene

  • O-glycosylated.
  • Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization.
  • Ubiquitinated in the presence of TRIM2 and UBE2D1.
  • Ubiquitination at Lys15, Lys271, and posLast=370370
  • Glycosylation at posLast=2121 and posLast=2727
  • Modification sites at PhosphoSitePlus

Other Protein References for NEFL Gene

ENSEMBL proteins:
REFSEQ proteins:

Assay Products

No data available for DME Specific Peptides for NEFL Gene

Domains & Families for NEFL Gene

Suggested Antigen Peptide Sequences for NEFL Gene

Graphical View of Domain Structure for InterPro Entry

P07196

UniProtKB/Swiss-Prot:

NFL_HUMAN :
  • The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions.
  • Belongs to the intermediate filament family.
Domain:
  • The extra mass and high charge density that distinguish the neurofilament proteins from all other intermediate filament proteins are due to the tailpiece extensions. This region may form a charged scaffolding structure suitable for interaction with other neuronal components or ions.
Family:
  • Belongs to the intermediate filament family.
genes like me logo Genes that share domains with NEFL: view

Function for NEFL Gene

Molecular function for NEFL Gene

GENATLAS Biochemistry:
neurofilament,light polypeptide (68kDa)
UniProtKB/Swiss-Prot Function:
Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the maintenance of neuronal caliber.

Gene Ontology (GO) - Molecular Function for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005198 structural molecule activity IEA --
GO:0005200 structural constituent of cytoskeleton IDA 12432080
GO:0005515 protein binding IPI 12837694
GO:0008022 protein C-terminus binding IPI 12226091
genes like me logo Genes that share ontologies with NEFL: view
genes like me logo Genes that share phenotypes with NEFL: view

Human Phenotype Ontology for NEFL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for NEFL Gene

MGI Knock Outs for NEFL:

Animal Model Products

CRISPR Products

miRNA for NEFL Gene

miRTarBase miRNAs that target NEFL

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for NEFL Gene

Localization for NEFL Gene

Gene Ontology (GO) - Cellular Components for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm ISS,IEA --
GO:0005829 cytosol TAS --
GO:0005882 intermediate filament IEA --
GO:0005883 neurofilament IDA,IEA 15857389
GO:0030424 axon IDA 14662745
genes like me logo Genes that share ontologies with NEFL: view

No data available for Subcellular locations from UniProtKB/Swiss-Prot and Subcellular locations from COMPARTMENTS for NEFL Gene

Pathways & Interactions for NEFL Gene

SuperPathway Contained pathways
1 RET signaling
2 Post NMDA receptor activation events
3 Transmission across Chemical Synapses
4 Amyotrophic lateral sclerosis (ALS)
5 Developmental Biology
genes like me logo Genes that share pathways with NEFL: view

Gene Ontology (GO) - Biological Process for NEFL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000226 microtubule cytoskeleton organization IEA --
GO:0008089 anterograde axonal transport IMP 15857389
GO:0008090 retrograde axonal transport IMP 15857389
GO:0009636 response to toxic substance IEA --
genes like me logo Genes that share ontologies with NEFL: view

No data available for SIGNOR curated interactions for NEFL Gene

Drugs & Compounds for NEFL Gene

(2) Drugs for NEFL Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(5) Additional Compounds for NEFL Gene - From: Novoseek

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

Transcripts for NEFL Gene

mRNA/cDNA for NEFL Gene

Unigene Clusters for NEFL Gene

Neurofilament, light polypeptide:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

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

No ASD Table

Relevant External Links for NEFL Gene

GeneLoc Exon Structure for
NEFL
ECgene alternative splicing isoforms for
NEFL

Expression for NEFL Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

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

This gene is overexpressed in Brain - Frontal Cortex (BA9) (x10.1), Brain - Cortex (x8.9), Brain - Anterior cingulate cortex (BA24) (x8.0), Brain - Substantia nigra (x4.8), Brain - Hypothalamus (x4.2), and Brain - Hippocampus (x4.2).

Protein differential expression in normal tissues from HIPED for NEFL Gene

This gene is overexpressed in Spinal cord (47.5), Frontal cortex (11.7), and Brain (7.6).

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



Protein tissue co-expression partners for NEFL Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of NEFL Gene:

NEFL

SOURCE GeneReport for Unigene cluster for NEFL Gene:

Hs.521461

Phenotype-based relationships between genes and organs from Gene ORGANizer for NEFL Gene

Germ Layers:
  • ectoderm
  • mesoderm
Systems:
  • nervous
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • brain
  • cerebellum
  • head
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • finger
  • foot
  • forearm
  • hand
  • hip
  • knee
  • lower limb
  • shin
  • shoulder
  • thigh
  • toe
  • upper limb
  • wrist
General:
  • peripheral nerve
  • peripheral nervous system
  • spinal cord
genes like me logo Genes that share expression patterns with NEFL: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt and Evidence on tissue expression from TISSUES for NEFL Gene

Orthologs for NEFL Gene

This gene was present in the common ancestor of chordates.

Orthologs for NEFL Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia NEFL 34
  • 99.75 (n)
dog
(Canis familiaris)
Mammalia NEFL 34
  • 94.63 (n)
cow
(Bos Taurus)
Mammalia NEFL 34
  • 93.43 (n)
mouse
(Mus musculus)
Mammalia Nefl 16 34
  • 89.62 (n)
rat
(Rattus norvegicus)
Mammalia Nefl 34
  • 89.19 (n)
chicken
(Gallus gallus)
Aves NEFL 34
  • 81.95 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia nefl 34
  • 72.07 (n)
African clawed frog
(Xenopus laevis)
Amphibia LOC397822 34
zebrafish
(Danio rerio)
Actinopterygii neflb 34
  • 61.82 (n)
sbcb126 34
Species where no ortholog for NEFL 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)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for NEFL Gene

ENSEMBL:
Gene Tree for NEFL (if available)
TreeFam:
Gene Tree for NEFL (if available)

Paralogs for NEFL Gene

Paralogs for NEFL Gene

Pseudogenes.org Pseudogenes for NEFL Gene

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

Variants for NEFL Gene

Sequence variations from dbSNP and Humsavar for NEFL Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs28928910 Pathogenic, Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684] 24,956,452(-) AGACG(A/C/T)CCCGG reference, missense
rs58332872 untested, Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734] 24,956,248(-) CGCAG(A/G)AGAAG reference, missense
rs587777881 Likely pathogenic, Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684] 24,955,509(-) GGAGC(C/T)GGAGG upstream-variant-2KB, reference, missense
rs58982919 Pathogenic, Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734] 24,956,223(-) CCTCA(A/G)TGACC reference, missense
rs59443585 Pathogenic, Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684] 24,955,521(-) GAAGC(A/C)GCTGC upstream-variant-2KB, reference, missense

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

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

Relevant External Links for NEFL Gene

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

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Variation tolerance for NEFL Gene

Disorders for NEFL Gene

MalaCards: The human disease database

(11) MalaCards diseases for NEFL Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
charcot-marie-tooth disease, type 2e
  • charcot-marie-tooth disease, axonal, type 2e
charcot-marie-tooth disease, type 1f
  • charcot-marie-tooth disease, demyelinating, type 1f
charcot-marie-tooth disease, axonal, type 2s
  • charcot-marie-tooth disease, axonal, type 2e
severe early-onset axonal neuropathy due to nefl deficiency
  • severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
charcot-marie-tooth neuropathy type 2e/1f
  • cmt2e/1f
- elite association - COSMIC cancer census association via MalaCards
Search NEFL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

NFL_HUMAN
  • Charcot-Marie-Tooth disease 1F (CMT1F) [MIM:607734]: A dominant demyelinating form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Demyelinating neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. CMT1F is characterized by onset in infancy or childhood (range 1 to 13 years). {ECO:0000269 PubMed:12566280, ECO:0000269 PubMed:14733962, ECO:0000269 PubMed:15241803}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Charcot-Marie-Tooth disease 2E (CMT2E) [MIM:607684]: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. Nerve conduction velocities are normal or slightly reduced. {ECO:0000269 PubMed:10841809, ECO:0000269 PubMed:11220745, ECO:0000269 PubMed:12481988, ECO:0000269 PubMed:15241803, ECO:0000269 PubMed:22206013}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for NEFL

Genetic Association Database (GAD)
NEFL
Human Genome Epidemiology (HuGE) Navigator
NEFL
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
NEFL
genes like me logo Genes that share disorders with NEFL: view

No data available for Genatlas for NEFL Gene

Publications for NEFL Gene

  1. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. (PMID: 17620486) Miltenberger-Miltenyi G. … LAPscher W.N. (Arch. Neurol. 2007) 2 3 22 64
  2. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot- Marie-Tooth neuropathy. (PMID: 14733962) Zuechner S. … Schroeder J.M. (Neuromuscul. Disord. 2004) 3 4 46 64
  3. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PMID: 15241803) Choi B.-O. … Chung K.W. (Hum. Mutat. 2004) 3 4 22 64
  4. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. (PMID: 12566280) Jordanova A. … Timmerman V. (Brain 2003) 3 4 22 64
  5. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (PMID: 11220745) De Jonghe P. … Timmerman V. (Ann. Neurol. 2001) 3 4 22 64

Products for NEFL Gene

Sources for NEFL Gene

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