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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

NEFL Gene

protein-coding   GIFtS: 67
GCID: GC08M024808

Neurofilament, Light Polypeptide

(Previous names: neurofilament, light polypeptide 68kDa)
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Neurofilament, Light Polypeptide1 2     CMT2E2 5
Neurofilament, Light Polypeptide 68kDa1 2     Light Molecular Weight Neurofilament Protein2
Neurofilament Triplet L Protein2 3     Neurofilament Light Polypeptide2
NF-L2 3     Neurofilament Protein, Light Chain2
NF682 3     Neurofilament Subunit NF-L2
NFL2 3     68 KDa Neurofilament Protein3
CMT1F2 5     

External Ids:    HGNC: 77391   Entrez Gene: 47472   Ensembl: ENSG000001047257   OMIM: 1622805   UniProtKB: P071963   

Export aliases for NEFL gene to outside databases

Previous GC identifers: GC08M024543 GC08M025163 GC08M024629 GC08M024832 GC08M024866 GC08M023353


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 polypeptide) is a protein-coding gene. Diseases associated with NEFL include charcot-marie-tooth disease type 2, and charcot-marie-tooth disease type 2e, and among its related super-pathways are Activation of NMDA receptor upon glutamate binding and postsynaptic events and Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell. GO annotations related to this gene include structural constituent of cytoskeleton and identical protein binding.

UniProtKB/Swiss-Prot: NFL_HUMAN, P07196
Function: 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


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.2  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NEFL gene promoter:
         AP-2alpha isoform 3   MyoD   AP-2alpha isoform 2   HEN1   POU2F1   POU2F1a   IRF-7A   AP-2alpha   AP-2alphaA   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEFL promoter sequence
   Search SABiosciences Chromatin IP Primers for NEFL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat NEFL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 8p21   Ensembl cytogenetic band:  8p21.2   HGNC cytogenetic band: 8p21.2

NEFL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
NEFL gene location

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08M024808:  view genomic region     (about GC identifiers)

Start:
24,808,468 bp from pter      End:
24,814,624 bp from pter
Size:
6,157 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: NFL_HUMAN, P07196 (See protein sequence)
Recommended Name: Neurofilament light polypeptide  
Size: 543 amino acids; 61517 Da
Subunit: Interacts with ARHGEF28 (By similarity). Interacts with TRIM2 (By similarity)
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
Secondary accessions: B9ZVN2 Q16154 Q8IU72

Explore the universe of human proteins at neXtProt for NEFL: NX_P07196

Explore proteomics data for NEFL at MOPED 

Post-translational modifications:

  • UniProtKB: O-glycosylated (By similarity)
  • UniProtKB: Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization
  • UniProtKB: Ubiquitinated in the presence of TRIM2 and UBE2D1 (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P07196

  • NEFL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    NEFL Protein Expression
    REFSEQ proteins: NP_006149.2  Reactome Protein details: P07196
    Human Recombinant Protein Products for NEFL: 
    EMD Millipore Purified and/or Recombinant NEFL Protein
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    Novus Biologicals NEFL Protein
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    Browse Sino Biological Cell Lysates 
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    Cloud-Clone Corp. Proteins for NEFL 

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0005883neurofilament IDA15857389
    GO:0030424axon IDA14662745
    GO:0033596colocalizes with TSC1-TSC2 complex IDA12226091

    NEFL for ontologies           About GeneDecksing



    NEFL Antibody Products: 
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    LSBio Antibodies in human, mouse, rat for NEFL 

    Assay Products for NEFL: 
    Browse Kits and Assays available from EMD Millipore
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    Cloud-Clone Corp. CLIAs for NEFL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    HGNC Gene Families: 
    IFF4: Intermediate filaments type IV

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR006821 Intermed_filament_DNA-bd
     IPR016044 F

    Graphical View of Domain Structure for InterPro Entry P07196

    ProtoNet protein and cluster: P07196

    1 Blocks protein domain: IPB001664 Intermediate filament protein

    UniProtKB/Swiss-Prot: NFL_HUMAN, P07196
    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
    Similarity: Belongs to the intermediate filament family


    NEFL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFL_HUMAN, P07196
    Function: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in
    the maintenance of neuronal caliber

         Genatlas biochemistry entry for NEFL:
    neurofilament,light polypeptide (68kDa)

         Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005200structural constituent of cytoskeleton IDA12432080
    GO:0005515protein binding IPI12837694
    GO:0008022protein C-terminus binding IPI12226091
    GO:0042802identical protein binding IPI12432080
         
    NEFL for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for NEFL:
     Synthetic lethal with Ras 

         2 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Nefl):
     nervous system  normal 

    NEFL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nefltm1Jpj for NEFL

       inGenious Targeting Laboratory - Custom generated mouse model solutions for NEFL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for NEFL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NEFL 
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    hsa-miR-30c hsa-miR-4317 hsa-miR-582-3p hsa-miR-137 hsa-miR-25 hsa-miR-30d hsa-miR-3692 hsa-miR-30a
    SwitchGear 3'UTR luciferase reporter plasmidNEFL 3' UTR sequence
    Inhib. RNA
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFL


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NEFL About   (see all 8)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Post NMDA receptor activation events
    Post NMDA receptor activation events0.89
    CREB phosphorylation through the activation of Ras0.82
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    2Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.67
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3CREB phosphorylation through the activation of CaMKII
    CREB phosphorylation through the activation of CaMKII0.78
    Unblocking of NMDA receptor, glutamate binding and activation0.68
    Ras activation uopn Ca2+ infux through NMDA receptor0.78
    4Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    5Pathogenesis of ALS
    Amyotrophic lateral sclerosis (ALS)0.31

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    2 EMD Millipore Pathways for NEFL
        Selected targets of Oct-3/4
    Cytoskeleton remodeling Neurofilaments


    2 Cell Signaling Technology (CST) Pathways for NEFL
        Neuroscience
    Cytoskeletal Signaling

    1 GeneGo (Thomson Reuters) Pathway for NEFL
        Cytoskeleton remodeling Neurofilaments


    5/9        Reactome Pathways for NEFL (see all 9)
        Ras activation uopn Ca2+ infux through NMDA receptor
    Unblocking of NMDA receptor, glutamate binding and activation
    CREB phosphorylation through the activation of CaMKII
    Transmission across Chemical Synapses
    CREB phosphorylation through the activation of Ras


    1         Kegg Pathway  (Kegg details for NEFL):
        Amyotrophic lateral sclerosis (ALS)


    NEFL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NEFL

    5/38 Interacting proteins for NEFL (P071961, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 38)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    VIMP086702, 3MINT-3980165 MINT-3980318 I2D: score=3 
    BRD7Q9NPI12, 3MINT-3980114 I2D: score=4 
    CDK5RAP2Q96SN82, 3MINT-65251 I2D: score=4 
    CHD3Q128732, 3MINT-3980097 I2D: score=4 
    PIAS4Q8N2W92, 3MINT-3980131 I2D: score=4 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007268synaptic transmission TAS--
    GO:0008089anterograde axon cargo transport IMP15857389
    GO:0008090retrograde axon cargo transport IMP15857389
    GO:0019896axon transport of mitochondrion IMP15857389
    GO:0033693neurofilament bundle assembly IMP15857389

    NEFL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    NEFL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for NEFL (NFL)

    7 Novoseek inferred chemical compound relationships for NEFL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    superoxide 14.7 2 10964615 (1), 8871580 (1)
    retinoic acid 7.22 3 7609647 (2), 9387884 (1)
    polyacrylamide 0 2 16292499 (2)
    atp 0 1 17233837 (1)
    glutamate 0 2 14969737 (1), 17055614 (1)
    creatinine 0 1 17233837 (1)
    nmda 0 1 14969737 (1)

    Search CenterWatch for drugs/clinical trials and news about NEFL / NFL

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for NEFL gene: 
    NM_006158.4  

    Unigene Cluster for NEFL:

    Neurofilament, light polypeptide
    Hs.521461  [show with all ESTs]
    Unigene Representative Sequence: NM_006158
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000221169(uc003xee.3)

    miRNA
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    8/30 QIAGEN miScript miRNA Assays for microRNAs that regulate NEFL (see all 30):
    hsa-miR-30c hsa-miR-4317 hsa-miR-582-3p hsa-miR-137 hsa-miR-25 hsa-miR-30d hsa-miR-3692 hsa-miR-30a
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    Additional mRNA sequence: 

    AK057731.1 AK075003.1 AK127430.1 AK225975.1 AK296186.1 AK299095.1 AK314591.1 AL713644.1 
    AY156690.1 BC037803.2 BC039237.1 BC066952.1 

    9 DOTS entries:

    DT.95347479  DT.455314  DT.99974967  DT.100781803  DT.120645844  DT.100643329  DT.120645816  DT.120645835 
    DT.121628557 

    24/294 AceView cDNA sequences (see all 294):

    BP362927 AA776099 AA330628 CB153313 BM693991 BQ722118 H88323 BQ718108 
    BP360158 BE272871 AA330627 BP348226 H88283 BM663635 BP360468 BU581623 
    AA666412 C20813 AA131433 BU740180 BP360191 BX432040 N22368 T16513 

    GeneLoc Exon Structure


    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    NEFL expression in normal human tissues (normalized intensities)      NEFL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GTAAGTCTCA
    NEFL Expression
    About this image


    NEFL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/19 selected tissues (see all 19) fully expand
     
     Brain (Nervous System)    fully expand to see all 37 entries
             Thalamus
             Globus Pallidus   
     
     Neural Tube (Nervous System)    fully expand to see all 5 entries
             Telencephalon
             brain/midbrain/lateral wall   
     
     Spinal Cord (Nervous System)    fully expand to see all 5 entries
             Dorsal Horn   
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Interzone Cells Stylopod Synovial Joint
             Autopod
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 4 entries
             autonomic/sympathetic/ganglion   

    See NEFL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for NEFL

    SOURCE GeneReport for Unigene cluster: Hs.521461
        SABiosciences Expression via Pathway-Focused PCR Arrays including NEFL: 
              Parkinson's Disease in human mouse rat
              Mitochondria in human mouse rat
              Huntington's Disease in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NEFL gene from 4/8 species (see all 8)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nefl1 , 5 neurofilament, light polypeptide1, 5 89.05(n)1
    95.76(a)1
      14 (35.46 cM)5
    180391  NM_010910.11  NP_035040.11 
     680838635 
    chicken
    (Gallus gallus)
    Aves NEFL1 neurofilament, light polypeptide 80.56(n)
    83.15(a)
      419528  XM_417679.3  XP_417679.1 
    African clawed frog
    (Xenopus laevis)
    Amphibia LOC3978222 neurofilament protein 76.35(n)    M86654.1 
    zebrafish
    (Danio rerio)
    Actinopterygii sbcb1262 sbcb126 75.2(n)   321113  BC056314.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NEFL gene
    18/34 SIMAP similar genes for NEFL using alignment to 3 protein entries:     NFL_HUMAN (see all proteins) (see all similar genes):
    DKFZp761K0922    VIM    GFAP    tmp_locus_29    PRPH    INA
    KRT1    KRT5    KRT6A    KRT6B    KRT6C    KRT81
    KRT83    KRT17    KRT2    KRT4    KRT3    KRT86

    NEFL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/257 SNPs in NEFL are shown (see all 257)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 8 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0216144
    Charcot-Marie-Tooth disease 2E (CMT2E)4--see VAR_0216142 E K mis40--------
    VAR_0216134
    Charcot-Marie-Tooth disease 2E (CMT2E)4--see VAR_0216132 L P mis40--------
    VAR_0160184
    Charcot-Marie-Tooth disease 1F (CMT1F)4--see VAR_0160182 P L mis40--------
    VAR_0160194
    Charcot-Marie-Tooth disease 1F (CMT1F)4--see VAR_0160192 P Q mis40--------
    VAR_0160204
    Charcot-Marie-Tooth disease 2E (CMT2E)4--see VAR_0160202 P R mis40--------
    rs594435851,2,4
    CCharcot-Marie-Tooth disease 2E (CMT2E)4 pathogenic125067607(-) GAAGCA/CGCTGC 2 Q P mis10--------
    rs589829191,2,4
    CCharcot-Marie-Tooth disease 1F (CMT1F)4 pathogenic125068309(-) CCTCAA/GTGACC 2 N S mis10--------
    rs289289101,2,4
    CCharcot-Marie-Tooth disease 2E (CMT2E)4 pathogenic125068538(-) AGACGA/C/TCCCGG 3 T P S mis1 ese30--------
    rs2818651401,2
    Cpathogenic125067601(-) GCTGCA/C/GGGAGC 2 Q P mis10--------
    rs591019961,2
    Cpathogenic125068156(-) CCTGGC/TGGCGG 2 A V mis10--------

    HapMap Linkage Disequilibrium report for NEFL (24808468 - 24814624 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NEFL: --

    Human Gene Mutation Database (HGMD): NEFL

    Locus Specific Mutation Databases (LSDB): NEFL
    SABiosciences Cancer Mutation PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NEFL
    DNA2.0 Custom Variant and Variant Library Synthesis for NEFL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 162280   
    OMIM disorders: 607684  607734  
    UniProtKB/Swiss-Prot: NFL_HUMAN, P07196
  • 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). 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 regeneration 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 20/49 diseases for NEFL (see all 49):    About MalaCards
    charcot-marie-tooth disease type 2    charcot-marie-tooth disease type 2e    chronic progressive multiple sclerosis    parkinsonian disorders
    severe early-onset axonal neuropathy due to nefl deficiency    charcot-marie-tooth neuropathy type 2e/1f    charcot-marie-tooth disease type 1f    charcot-marie-tooth neuropathy type 1
    tooth disease    charcot-marie-tooth disease    charcot-marie-tooth disease type 1    charcot-marie-tooth neuropathy type 2
    charcot-marie-tooth neuropathy    progressive supranuclear palsy    brain cancer    axonal neuropathy
    neuropathy    hereditary neuropathies    distal hereditary motor neuropathy    tropical spastic paraparesis

    2 diseases from the University of Copenhagen DISEASES database for NEFL:
    Neuropathy     Myopathy

    NEFL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/15 Novoseek inferred disease relationships for NEFL gene (see all 15)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    charcot-marie-tooth disease 84.6 15 16930284 (2), 17620486 (2), 12566280 (2), 15241803 (2) (see all 9)
    amyotrophic lateral sclerosis 55.1 1 17428473 (1)
    neurodegeneration 49 1 8863508 (1)
    supranuclear palsy progressive 43.3 1 19647470 (1)
    neurodegenerative diseases 41.8 2 15584481 (1), 17244493 (1)
    demyelination 23.7 1 19286384 (1)
    paralysis 22.7 1 17413320 (1)
    parkinsonism 22.7 1 9452329 (1)
    dementia vascular 22.5 1 11852185 (1)
    alzheimers disease 21.1 2 11852185 (1), 9147405 (1)

    GeneTests: NEFL
    GeneReviews: NEFL
    Genetic Association Database (GAD): NEFL
    Human Genome Epidemiology (HuGE) Navigator: NEFL (5 documents)

    Export disorders for NEFL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for NEFL gene, integrated from 9 sources (see all 199):
    (articles sorted by number of sources associating them with NEFL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot- Marie-Tooth neuropathy. (PubMed id 14733962)1, 2, 4 Zuechner S.... Schroeder J.M. (2004)
    2. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. (PubMed id 17620486)1, 3, 9 Miltenberger-Miltenyi G....Loscher W.N. (2007)
    3. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. (PubMed id 12566280)1, 2, 9 Jordanova A.... Timmerman V. (2003)
    4. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. (PubMed id 11220745)1, 2, 9 De Jonghe P.... Timmerman V. (2001)
    5. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. (PubMed id 15241803)1, 2, 9 Choi B.-O.... Chung K.W. (2004)
    6. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. (PubMed id 10841809)1, 2, 9 Mersiyanova I.V.... Evgrafov O.V. (2000)
    7. Human Variation in Alcohol Response Is Influenced by Variation in Neuronal Signaling Genes. (PubMed id 20201926)1, 4 Joslyn G....White R.L. (2010)
    8. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
    9. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. (PubMed id 12481988)1, 2 Georgiou D.-M....Christodoulou K. (2002)
    10. Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. (PubMed id 12432080)1, 2 Perez-Olle R.... Liem R.K. (2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
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      Query String
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    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4747 HGNC: 7739 AceView: NEFL Ensembl:ENSG00000104725 euGenes: HUgn4747
    ECgene: NEFL Kegg: 4747 H-InvDB: NEFL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NEFL Pharmacogenomics, SNPs, Pathways
    Inherited peripheral neuropathies mutation dbhttp://www.molgen.ua.ac.be/CMTMutations/
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEFL

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for NEFL gene:
    Search GeneIP for patents involving NEFL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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