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NEFL Gene

protein-coding   GIFtS: 68
GCID: GC08M024808

Neurofilament, Light Polypeptide

(Previous names: neurofilament, light polypeptide 68kDa)
  See NEFL-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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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, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 1f, and severe early-onset axonal neuropathy due to nefl deficiency. 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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000008.10  NC_018919.2  NT_167187.2  
Regulatory elements:
   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 Chromatin IP Primers for NEFL

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing 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 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., and/or eBioscience,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., and/or eBioscience, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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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: 

  • 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
  • Ubiquitination2 at Lys15, Lys271, Lys370
  • Glycosylation2 at Thr21, Ser27
  • Modification sites at PhosphoSitePlus

  • See NEFL Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_006149.2  Reactome Protein details: P07196

    NEFL Human Recombinant Protein Products:

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    Novus Biologicals NEFL Protein
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    Cloud-Clone Corp. Proteins for NEFL

     
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    NEFL Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of NEFL
    R&D Systems Antibodies for NEFL (NF-L)
    Cell Signaling Technology (CST) Antibodies for NEFL  (NFL)
    OriGene Antibodies for NEFL
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    Novus Biologicals NEFL Antibodies
    Abcam antibodies for NEFL (, P07196, P12036, P07197)
    Cloud-Clone Corp. Antibodies for NEFL
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    LSBio Antibodies in human, mouse, rat for NEFL

    NEFL Assay Products:

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    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NEFL
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    Search eBioscience for ELISAs for NEFL 


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

    4 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR027692 NF-L
     IPR001664 IF
     IPR006821 Intermed_filament_DNA-bd

    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


    Find genes that share domains with NEFL           About GenesLikeMe


    (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,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    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): 5 molecular function terms:    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:0030674protein binding, bridging ISS--
    GO:0042802identical protein binding IPI12432080
         
    Find genes that share ontologies with NEFL           About GenesLikeMe


    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 

    Find genes that share phenotypes with NEFL           About GenesLikeMe

    Animal Models:
         MGI mouse knock-out Nefltm1Jpj for NEFL

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NEFL
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for NEFL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for NEFL
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for NEFL

    miRNA
    Products:
        
    miRTarBase miRNAs that target NEFL:
    hsa-mir-32-5p (MIRT028294)

    Block miRNA regulation of human, mouse, rat NEFL using miScript Target Protectors
    Selected qRT-PCR 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 plasmidNEFL 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NEFL
    Predesigned siRNA for gene silencing in human, mouse, rat NEFL

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NEFL

    Clone
    Products:
         
    OriGene clones in human, mouse for NEFL (see all 7)
    OriGene ORF clones in mouse, rat for NEFL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: NEFL (NM_006158)
    Sino Biological Human cDNA Clone for NEFL
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEFL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEFL

    Cell Line
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    Browse ESI BIO Cell Lines and PureStem Progenitors for NEFL 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFL


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2
    mitochondrion1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005829cytosol TAS--
    GO:0005883neurofilament IDA15857389
    GO:0030424axon IDA14662745
    GO:0033596colocalizes with TSC1-TSC2 complex IDA12226091

    Find genes that share ontologies with NEFL           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for NEFL About   (see all 7)  
    See pathways by source

    SuperPathContained pathways About
    1Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Amyotrophic lateral sclerosis (ALS)0.63
    2Post NMDA receptor activation events
    Post NMDA receptor activation events0.90
    Ras activation uopn Ca2+ infux through NMDA receptor0.00
    Activation of NMDA receptor upon glutamate binding and postsynaptic events0.90
    Unblocking of NMDA receptor, glutamate binding and activation0.00
    CREB phosphorylation through the activation of Ras0.78
    CREB phosphorylation through the activation of CaMKII0.00
    3Transmission across Chemical Synapses
    Transmission across Chemical Synapses0.72
    Neuronal System0.68
    Neurotransmitter Receptor Binding And Downstream Transmission In The Postsynaptic Cell0.72
    4Cytoplasmic microtubules
    Cytoskeleton remodeling Neurofilaments0.32
    5Selected targets of Oct 3 4
    Selected targets of Oct 3 4


    Find genes that share SuperPaths with NEFL           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


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

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

    1 BioSystems Pathway for NEFL
        Amyotrophic lateral sclerosis (ALS)


    3 Reactome Pathways for NEFL
        Ras activation uopn Ca2+ infux through NMDA receptor
    Unblocking of NMDA receptor, glutamate binding and activation
    CREB phosphorylation through the activation of CaMKII


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

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NEFL: 
              Parkinson's Disease in human mouse rat
              Mitochondria in human mouse rat
              Huntington's Disease in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NEFL

    Selected 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): Selected biological process terms (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

    Find genes that share ontologies with NEFL           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    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)



    Find genes that share compounds with NEFL           About GenesLikeMe



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    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(processed_transcript)
    miRNA
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    Block miRNA regulation of human, mouse, rat NEFL using miScript Target Protectors
    Selected qRT-PCR 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 plasmidNEFL 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat NEFL
    Clone
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      QuantiTect SYBR Green Assays in human, mouse, rat NEFL
      QuantiFast Probe-based Assays in human, mouse, rat NEFL

    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 

    Selected AceView cDNA sequences (see all 294):

    AA330627 AI126135 BM663635 BU580841 BQ718108 AA122210 CB153313 AA330628 
    BP348226 BP346736 F03054 CB116058 BQ051307 AW022557 BU147440 BM697449 
    BP362927 AA151794 H88323 BP360468 C20813 BQ718900 BX432040 BQ638210 

    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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    NEFL expression in normal human tissues (normalized intensities)
    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
     selected tissues (see all 13) fully expand
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Interzone Cells Stylopod Synovial Joint
             Zeugopod
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 4 entries
             Line H9 (Naive)
     
     Pancreas (Endocrine System)    fully expand to see all 4 entries
             Endocrine Progenitor Cells Ventral Pancreatic Bud
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 3 entries
             Muscle Progenitor Cells Mandibular Arch Muscles
             Extraocular Muscles
     
     Epiblast (Early Embryonic Tissues)    fully expand to see all 2 entries
             Epiblast Cells Epiblast
             Epiblast Stem Cell line 5
    NEFL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEFL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.521461
        Pathway & Disease-focused RT2 Profiler 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 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)
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    This gene was present in the common ancestor of chordates.

    Orthologs for NEFL gene from Selected species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nefl1 , 5 neurofilament, light polypeptide1, 5 89.62(n)1
    97.46(a)1
      14 (35.46 cM)5
    180391  NM_010910.11  NP_035040.11 
     680838635 
    chicken
    (Gallus gallus)
    Aves NEFL1 neurofilament, light polypeptide 81.95(n)
    84.86(a)
      419528  XM_001232614.3  XP_001232615.1 
    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)
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    Paralogs for NEFL gene
    Selected 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
    DES    KRT1    KRT5    KRT6A    KRT6B    KRT6C
    KRT81    KRT83    KRT17    KRT2    KRT4    KRT3

    Find genes that share paralogs with NEFL           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for NEFL (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
    ----------
    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--------
    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--------
    rs602614941,2,4
    Charcot-Marie-Tooth disease 2E (CMT2E)4--see VAR_0160202 mis40--------
    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

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing NEFL
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    (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.)
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    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 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.
    Note=The disease is caused by mutations affecting the gene represented in this entry

  • 15 diseases for NEFL:    
    About MalaCards
    charcot-marie-tooth disease type 1f    severe early-onset axonal neuropathy due to nefl deficiency    charcot-marie-tooth disease type 2e    charcot-marie-tooth neuropathy type 2e/1f
    beryllium disease, chronic    charcot-marie-tooth disease type 2    charcot-marie-tooth neuropathy type 1    tooth disease
    charcot-marie-tooth disease type 1    charcot-marie-tooth disease    tropical spastic paraparesis    charcot-marie-tooth neuropathy type 2
    spastic paraparesis    amyotrophic lateral sclerosis    schizophrenia

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

    Find genes that share disorders with NEFL           About GenesLikeMe

    Selected 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

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    PubMed articles for NEFL gene, integrated from 10 sources (see all 204):
    (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. (Neuromuscul. Disord. 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....LAPscher W.N. (Arch. Neurol. 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. (Brain 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. (Ann. Neurol. 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. (Hum. Mutat. 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. (Am. J. Hum. Genet. 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. (Alcohol. Clin. Exp. Res. 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. (Genome Res. 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. (Neurogenetics 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. (J. Cell Sci. 2002)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    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

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    Entrez Gene: 4747 HGNC: 7739 AceView: NEFL Ensembl:ENSG00000104725 euGenes: HUgn4747
    ECgene: NEFL Kegg: 4747 H-InvDB: NEFL

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    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/books/NBK1116/?term=NEFL[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    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, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, eBioscience, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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