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

NEFL Gene

protein-coding   GIFtS: 66
GCID: GC08M024808

neurofilament, light polypeptide

(Previous names: neurofilament, light polypeptide 68kDa )
 Explore 49 diseases affiliated with
NEFL via
MalaCards
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Biological research products
for NEFL    

Aliases
for NEFL gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Neurofilament, Light Polypeptide1 2     NF-L2 3
NF681 2 3     Light Molecular Weight Neurofilament Protein2
NFL1 2 3     Neurofilament Light Polypeptide2
CMT1F1 2 5     Neurofilament Protein, Light Chain2
CMT2E1 2 5     Neurofilament Subunit NF-L2
Neurofilament, Light Polypeptide 68kDa1 2     68 KDa Neurofilament Protein3
Neurofilament Triplet L Protein2 3     

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


Summaries
for NEFL gene

(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:
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)

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


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  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 plasmid: NEFL 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

Proteins
for NEFL gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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

Post-translational modifications:

  • O-glycosylated (By similarity)1
  • Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization1
  • Ubiquitinated in the presence of TRIM2 and UBE2D1 (By similarity)1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07196

    • NEFL Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins: NP_006149.2  Reactome Protein details: P07196
    Human Recombinant Protein Products: 
    EMD Millipore Purified and/or Recombinant NEFL Protein
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    Novus Biologicals NEFL Protein
    Novus Biologicals NEFL Lysates
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    Uscn 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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    Uscn ELISAs and CLIAs for NEFL

    Protein Domains /
    Families
    for NEFL gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    NEFL for domains           About GeneDecksing

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

    Graphical View of Domain Structure for InterPro Entry P07196

    ProtoNet protein and cluster: P07196

    1 Blocks protein family: 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


    Function
    for NEFL gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEFL
    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
    SwitchGear 3'UTR luciferase reporter plasmid: NEFL 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEFL (see all 7)
    OriGene shRNA RFP: NEFL
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    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for NEFL

    Clone
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    In Situ Assay
    Products:       
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    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


    1 GenomeRNAi human phenotype for NEFL:
     Synthetic lethal with Ras 

    Animal Models:
         Mouse knock-out Nefltm1Jpj for NEFL
         2 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Nefl):
     nervous system  normal 

    NEFL for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NEFL gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways - 5/8 super-pathways (see all 8) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1CREB phosphorylation through the activation of CaMKII
    		CREB phosphorylation through the activation of CaMKII1.00
    		Unblocking of NMDA receptor, glutamate binding and activation0.68
    		Ras activation uopn Ca2+ infux through NMDA receptor0.78
    2Transmission across Chemical Synapses
    		Transmission across Chemical Synapses1.00
    		Neuronal System0.67
    		Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    3Post NMDA receptor activation events
    		Post NMDA receptor activation events1.00
    		CREB phosphorylation through the activation of Ras0.82
    		Activation of NMDA receptor upon glutamate binding and postsynaptic events0.89
    4Cytoskeleton remodeling Neurofilaments
    		Cytoskeleton remodeling Neurofilaments1.00
    		Cytoskeleton remodeling_Neurofilaments0.91
    5Neuroscience
    		Neuroscience1.00

    Pathway sources
    See GeneCards unified pathways
    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

    5/32 Interacting proteins for NEFL (P071961, 2, 3) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    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



    Drugs & Compounds
    for NEFL gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, 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
    7 Novoseek 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 

    Transcripts
    for NEFL gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    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, 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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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEFL
    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
    SwitchGear 3'UTR luciferase reporter plasmid: NEFL 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEFL (see all 7)
    OriGene shRNA RFP: NEFL
    OriGene siRNA: NEFL
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NEFL
    Clone
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    GenScript: all cDNA clones in your preferred vector: NEFL (NM_006158)
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    Primer
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    Additional cDNA 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):

    CB153313 N22368 BP346736 BM663635 CB116058 BM697449 BQ638210 BU740180 
    BQ879162 AI126135 BQ051307 BQ718108 F03057 BQ720008 BM693991 BU147440 
    BP348257 BP348226 AA214377 F03054 BQ722118 AA131433 BQ717103 C20813 

    GeneLoc Exon Structure


    Expression
    for NEFL gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GTAAGTCTCA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NEFL expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/12 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 12) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbStylopod Synovial JointInterzone CellsCartilage
    OvaryOvigerous CordOvarian Somatic CellsOvary
    BoneMaxillary ProcessBone
    BoneZeugopod Epiphyseal EndBone
    BrainHypothalamusBrain
    EyeRetinaEye
    LimbAutopodLimb
    LimbStylopod Synovial JointLimb
    LimbZeugopodLimb
    Neural TubeMetencephalonNeural Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 2 LifeMap Cells 
    NameCategory
    Sclerotome cells (Primary Cell)Bone, Cartilage, Somite
    Line H9 (WA09) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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

    Primer
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFL

    Orthologs
    for NEFL gene

    (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
    for NEFL gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    		  --

    Genomic Variants
    for NEFL gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/168 NCBI SNPs in NEFL are shown (see all 168)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs594435851,2
    		Cpathogenic23357802(-) GAAGCA/CGCTGC 2 Q P mis10--------
    rs1219136631,2
    		Cpathogenic23358379(-) TGTACG/TAGCAG 2 E * stg10--------
    rs626365051,2
    		Cpathogenic23358516(-) GCAGCC/TCCAGG 2 P L mis10--------
    rs289289101,2
    		Cpathogenic23358733(-) AGACGA/C/TCCCGG 3 T P S mis1 ese31NA 2
    rs38325581,2
    		Cuntested23355141(-) aggag-/GAGaagaa 1 -- cds10--------
    rs1512081481,2
    		C,untested23355230(+) CTTGGC/TAGCTT 2 T A mis10--------
    rs571533211,2
    		Cuntested23355843(-) CCAAGA/GATGAG 2 N D mis10--------
    rs1405327851,2
    		C,untested23355916(+) CTGGTA/G/TTAGTA 3 * Y stg1 syn10--------
    rs601562391,2
    		C,F,untested23358130(-) CTTTTC/TTGAAG 2 L syn11Minor allele frequency- T:0.01EU 569
    rs626365221,2
    		C,untested23358158(-) CGCATC/GGACAG 2 I M mis10--------

    HapMap Linkage Disequilibrium report for NEFL (24808468 - 24814624 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          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
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    Disorders / Diseases
    for NEFL gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    NEFL for disorders           About GeneDecksing

    OMIM gene information: 162280   
    OMIM disorders: 607684  607734  
    UniProtKB/Swiss-Prot: NFL_HUMAN, P07196
  • Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 1F (CMT1F) [MIM:607734]. CMT1F is a form of
    • Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth
    disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary
    peripheral demyelinating neuropathy or CMT1, and primary peripheral axonal neuropathy or CMT2. Neuropathies of the
    CMT1 group 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)
  • Defects in NEFL are the cause of Charcot-Marie-Tooth disease type 2E (CMT2E) [MIM:607684]. CMT2E is an
    • autosomal dominant form of Charcot-Marie-Tooth disease type 2. 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

    20/49 diseases for NEFL (see all 49):    About MalaCards
    charcot-marie-tooth disease    charcot-marie-tooth disease type 1f    charcot-marie-tooth disease type 1    charcot-marie-tooth neuropathy
    charcot-marie-tooth disease type 2    charcot-marie-tooth disease type 2e    charcot-marie-tooth neuropathy type 2    tooth disease
    charcot-marie-tooth neuropathy type 1    neuropathy    supranuclear palsy    distal hereditary motor neuropathy
    amyotrophic lateral sclerosis    tropical spastic paraparesis    amyotrophic lateral sclerosis (als)    progressive supranuclear palsy
    spastic paraparesis    lateral sclerosis    parkinsonian disorders    chronic progressive multiple sclerosis

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

    10/15 Novoseek 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
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2E/1F
    Charcot-Marie-Tooth Neuropathy Type 1

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

    Export disorders for NEFL gene to outside databases

    Publications
    for NEFL gene

    (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 192):
    (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. 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)
    8. 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)
    9. 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)
    10. Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson's disease. (PubMed id 12231460)1, 4 Rahner N....Riess O. (2002)

    External Searches for NEFL gene

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

    Genome Databases showing NEFL gene

    (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

    Other Databases showing NEFL gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NEFL gene

    (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

    Intellectual Property
    for NEFL gene

    (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



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    About This Section

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