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NEFH Gene

protein-coding   GIFtS: 65
GCID: GC22P029876

Neurofilament, Heavy Polypeptide

(Previous names: neurofilament, heavy polypeptide 200kDa)
  See 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, Heavy Polypeptide1 2     NF-H2 3
Neurofilament, Heavy Polypeptide 200kDa1 2     NFH2 3
Neurofilament Triplet H Protein2 3     Neurofilament Heavy Polypeptide2
200 KDa Neurofilament Protein2 3     KIAA08453

External Ids:    HGNC: 77371   Entrez Gene: 47442   Ensembl: ENSG000001002857   OMIM: 1622305   UniProtKB: P120363   

Export aliases for NEFH gene to outside databases

Previous GC identifers: GC22P026572 GC22P028191 GC22P028200 GC22P012839


(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 NEFH Gene:
Neurofilaments are type IV intermediate filament heteropolymers composed of light, medium, and heavy chains.
Neurofilaments comprise the axoskeleton and functionally maintain neuronal caliber. They may also play a role in
intracellular transport to axons and dendrites. This gene encodes the heavy neurofilament protein. This protein
is commonly used as a biomarker of neuronal damage and susceptibility to amyotrophic lateral sclerosis (ALS) has
been associated with mutations in this gene. (provided by RefSeq, Oct 2008)

GeneCards Summary for NEFH Gene:
NEFH (neurofilament, heavy polypeptide) is a protein-coding gene. Diseases associated with NEFH include amyotrophic lateral sclerosis, and toxic encephalopathy. GO annotations related to this gene include structural molecule activity. An important paralog of this gene is DES.

UniProtKB/Swiss-Prot: NFH_HUMAN, P12036
Function: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in
the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the
two smaller NF proteins




(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:
NC_000022.11  NT_011520.13  NC_018933.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEFH gene promoter:
         GR   SRF   AhR   AML1a   p53   Pax-5   SRF (504 AA)   Arnt   GR-alpha   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEFH promoter sequence
   Search Chromatin IP Primers for NEFH

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat NEFH


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

Entrez Gene cytogenetic band: 22q12.2   Ensembl cytogenetic band:  22q12.2   HGNC cytogenetic band: 22q12.2

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

GeneLoc information about chromosome 22         GeneLoc Exon Structure

GeneLoc location for GC22P029876:  view genomic region     (about GC identifiers)

Start:
29,876,181 bp from pter      End:
29,887,379 bp from pter
Size:
11,199 bases      Orientation:
plus 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, 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., 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: NFH_HUMAN, P12036 (See protein sequence)
Recommended Name: Neurofilament heavy polypeptide  
Size: 1026 amino acids; 112479 Da
Sequence caution: Sequence=BAA74868.2; Type=Erroneous initiation; Sequence=BAG63896.1; Type=Erroneous initiation;
Secondary accessions: B4DYY4 Q96HF8 Q9UJS7 Q9UQ14
Alternative splicing: 2 isoforms:  P12036-1   P12036-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NEFH: NX_P12036

Explore proteomics data for NEFH at MOPED

Post-translational modifications: 

  • There are a number of repeats of the tripeptide K-S-P, NFH is phosphorylated on a number of the serines in this
    motif. It is thought that phosphorylation of NFH results in the formation of interfilament cross bridges that are
    important in the maintenance of axonal caliber1
  • Phosphorylation seems to play a major role in the functioning of the larger neurofilament polypeptides (NF-M and
    NF-H), the levels of phosphorylation being altered developmentally and coincidentally with a change in the
    neurofilament function1
  • Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins: NP_066554.2  
    ENSEMBL proteins: 
     ENSP00000311997  

    NEFH Human Recombinant Protein Products:

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    NEFH Antibody Products:

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    Abcam antibodies for NEFH (, P12036, P07197)
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    Cloud-Clone Corp. CLIAs for NEFH


    (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

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR010790 DUF1388
     IPR001664 IF

    Graphical View of Domain Structure for InterPro Entry P12036

    ProtoNet protein and cluster: P12036

    2 Blocks protein domains:
    IPB001664 Intermediate filament protein
    IPB010790 Protein of unknown function DUF1388


    UniProtKB/Swiss-Prot: NFH_HUMAN, P12036
    Similarity: Belongs to the intermediate filament family


    NEFH 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,
    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, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFH_HUMAN, P12036
    Function: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in
    the maintenance of neuronal caliber. NF-H has an important function in mature axons that is not subserved by the
    two smaller NF proteins

         Genatlas biochemistry entry for NEFH:
    neurofilament,heavy polypeptide (200kDa),with a deletion of the tail primarily involved in uncommon forms of
    amyotrophic lateral sclerosis

         Gene Ontology (GO): Selected molecular function terms (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ----
    GO:0005198structural molecule activity IMP7536898
    GO:0005200structural constituent of cytoskeleton ISS--
    GO:0008017microtubule binding TAS17498690
    GO:0019894kinesin binding TAS17498690
         
    NEFH for ontologies           About GeneDecksing


    Phenotypes:
         3 GenomeRNAi human phenotypes for NEFH:
     G2 arrest  Increased S DNA content  Increased cell size 

         3 MGI mutant phenotypes (inferred from 5 alleles(MGI details for Nefh):
     behavior/neurological  cellular  nervous system 

    NEFH for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for NEFH: Nefhtm1Dwc Nefhtm1Jpj Nefhtm2Dwc Nefhtm1Ral

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

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

    miRNA
    Products:
        
    miRTarBase miRNAs that target NEFH:
    hsa-mir-106b-5p (MIRT020455), hsa-mir-335-5p (MIRT017917), hsa-mir-142-3p (MIRT021571)

    Block miRNA regulation of human, mouse, rat NEFH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEFH (see all 11):
    hsa-miR-3910 hsa-miR-92a hsa-miR-137 hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-3617 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidNEFH 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NEFH
    Predesigned siRNA for gene silencing in human, mouse, rat NEFH

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: NEFH (NM_021076)
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFH


    (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
    cytosol3
    mitochondrion2
    nucleus2

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm ISS--
    GO:0005739mitochondrion IEA--
    GO:0005882intermediate filament ----
    GO:0005883neurofilament NAS3138108
    GO:0030424axon TAS14662745

    NEFH for ontologies           About GeneDecksing


    (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 NEFH About    
    See pathways by source

    SuperPathContained pathways About
    1Amyotrophic lateral sclerosis (ALS)
    Amyotrophic lateral sclerosis (ALS)0.63
    Amyotrophic lateral sclerosis (ALS)0.63
    2Cytoplasmic microtubules
    Cytoskeleton remodeling Neurofilaments0.32
    3Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Cell Signaling Technology (CST) Pathway for NEFH
        Neuroscience

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

    1 BioSystems Pathway for NEFH
        Amyotrophic lateral sclerosis (ALS)


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


    NEFH for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NEFH: 
              Terminal Differentiation Markers in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NEFH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 19)

    Selected Interacting proteins for NEFH (P120363 ENSP000003119974) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ESR2Q927313, ENSP000003439254I2D: score=1 STRING: ENSP00000343925
    MAPK1P284823, ENSP000002158324I2D: score=1 STRING: ENSP00000215832
    NEFMP071973, ENSP000002211664I2D: score=1 STRING: ENSP00000221166
    STXBP1P617643, ENSP000003623994I2D: score=1 STRING: ENSP00000362399
    PKN1Q165123, ENSP000003433254I2D: score=2 STRING: ENSP00000343325
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 12):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0007399nervous system development ----
    GO:0007409axonogenesis TAS17498690
    GO:0008219cell death IEA--
    GO:0030031cell projection assembly TAS17498690

    NEFH for ontologies           About GeneDecksing



    (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 NEFH (NFH)

    5 Novoseek inferred chemical compound relationships for NEFH gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    serine 17 1 9118204 (1)
    opiate 12.8 1 12637947 (1)
    paraffin 9 1 10094414 (1)
    tyrosine 0 1 12697053 (1)
    superoxide 0 2 9689131 (1), 8871580 (1)



    NEFH for compounds           About GeneDecksing



    (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, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for NEFH gene: 
    NM_021076.3  

    Unigene Cluster for NEFH:

    Neurofilament, heavy polypeptide
    Hs.198760  [show with all ESTs]
    Unigene Representative Sequence: AB020652
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000310624(uc003afo.3)
    miRNA
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    Block miRNA regulation of human, mouse, rat NEFH using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEFH (see all 11):
    hsa-miR-3910 hsa-miR-92a hsa-miR-137 hsa-miR-25 hsa-miR-367 hsa-miR-32 hsa-miR-3617 hsa-miR-4325
    SwitchGear 3'UTR luciferase reporter plasmidNEFH 3' UTR sequence
    Inhib. RNA
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEFH
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      QuantiFast Probe-based Assays in human, mouse, rat NEFH

    Additional mRNA sequence: 

    AB020652.2 AF203032.1 AK302660.1 BC008648.1 BC073969.1 

    3 DOTS entries:

    DT.100735684  DT.214057  DT.91728428 

    Selected AceView cDNA sequences (see all 66):

    AI371980 NM_021076 BE223015 AW273707 BV174946 BU726087 BQ636126 AI804398 
    BF445500 AI090816 BQ721646 BC073969 AA661641 AB020652 AF203032 BV180094 
    BM705161 AI420558 BQ716465 BF476751 AI828868 AA902752 BG470700 BU170589 

    GeneLoc Exon Structure

    2 Alternative Splicing Database (ASD) splice patterns (SP) for NEFH    About this scheme

    ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b
    SP1:                                    
    SP2:                                    


    ECgene alternative splicing isoforms for NEFH

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


    NEFH expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 12) fully expand
     
     Neurons
             Mature Rod Cells Outer Nuclear Layer
             Motor neuron progenitor cells
     
     Spinal Cord (Nervous System)
             Motor neuron progenitor cells
     
     Motor Neurons (Nervous System)
             Motor neuron progenitor cells
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Brain (Nervous System)    fully expand to see all 3 entries
             Cerebellum
    NEFH Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEFH Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.198760
        Pathway & Disease-focused RT2 Profiler PCR Array including NEFH: 
              Terminal Differentiation Markers in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFH

    (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 animals.

    Orthologs for NEFH gene from Selected species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nefh1 , 5 neurofilament, heavy polypeptide1, 5 82.42(n)1
    82.93(a)1
      11 (3.12 cM)5
    3806841  NM_010904.31  NP_035034.21 
     49387545 
    chicken
    (Gallus gallus)
    Aves NEFH1 neurofilament, heavy polypeptide 70.22(n)
    70.72(a)
      417020  XM_415310.4  XP_415310.4 
    lizard
    (Anolis carolinensis)
    Reptilia NEFH6
    neurofilament, heavy polypeptide
    41(a)
    1 ↔ 1
    GL343417.1(60084-68279)
    zebrafish
    (Danio rerio)
    Actinopterygii nefmb6
    CABZ01079764.16
    (see all 7)
    Uncharacterized protein
    (see all 7)
    39(a)
    32(a)
    (see all 7)
    many ↔ many
    many ↔ many
    (see all 7)
    8(7433111-7436536) ENSDARG00000043697
    21(481210-485138) ENSDARG00000068589
    worm
    (Caenorhabditis elegans)
    Secernentea ifc-26
    ifa-16
    (see all 10)
    Protein IFC-2, isoform d (ifc-2) mRNA, complete cd...
    Protein IFA-1, isoform c (ifa-1) mRNA, complete cd...
    (see all 10)
    8(a)
    22(a)
    (see all 10)
    many ↔ many
    many ↔ many
    (see all 10)
    X(642161-654903) WBGene00002056
    X(11269897-11275482) WBGene00002050


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NEFH gene
    DES2  NEFM2  LMNB12  VIM2  INA2  LMNB22  LMNA2  GFAP2  
    PRPH2  
    7 SIMAP similar genes for NEFH using alignment to 2 protein entries:     NFH_HUMAN (see all proteins):
    INA    KRT5    DES    tmp_locus_29    NEFM    KRT7
    KRT8

    NEFH for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NEFH
    PGOHUM00000244157 PGOHUM00000247536


    (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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    Polymorphic Variants from UniProtKB/Swiss-Prot
    NFH_HUMAN, P12036: The number of repeats is shown to vary between 29 and 30


    Selected SNPs for NEFH (see all 409)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 22 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs615564671,2
    Cuntested113798272(+) GGTGGC/TGGTGG 2 A V mis10--------
    rs608259781,2
    Cuntested113798748(+) GCTCCA/GGCGCC 2 S G mis10--------
    rs1499552551,2
    C,Funtested113801286(+) AGGACC/AGTCAT 2 /S /R mis12Minor allele frequency- A:0.00NA EU 5603
    rs2014169551,2
    Cuntested113803517(+) TGGCCA/GCCCAG 2 T A mis10--------
    rs593710991,2
    C,Funtested113806757(+) CAGAGG/AAGACC 2 /K /E mis14Minor allele frequency- A:0.07NS NA EU 5893
    rs57632691,2,,4
    C,F,Huntested113807214(+) GTCACC/TGGCTG 2 P L mis1 ese39Minor allele frequency- T:0.19NS EA NA WA 5128
    rs2676075331,2
    Cuntested113807335(+) TCCCC-/AGAGAAGGAAG
    AGGCCAAGTCCCC
    TGAGA
    1 -- cds10--------
    rs1656021,2,,4
    C,F,O,A,Huntested113807784(+) GAAGGA/CGGATG 2 E A mis1 ese329Minor allele frequency- C:0.13MN NS EA NA WA CSA EU 8081
    rs1656251,2
    C,F,O,A,Huntested113808154(+) GAGGTG/AGCCAA 2 /V syn132Minor allele frequency- A:0.18NS EA NA MN WA CSA EU 8566
    rs1909112511,2
    C--12845992(+) TATTTA/TTTTTT 1 -- int10--------

    HapMap Linkage Disequilibrium report for NEFH (29876181 - 29887379 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for NEFH:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv438344CNV Loss16468122
    nsv524511CNV Loss19592680

    Human Gene Mutation Database (HGMD): NEFH
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NEFH
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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.)
    About This Section

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    OMIM gene information: 162230   
    OMIM disorders: 105400  
    UniProtKB/Swiss-Prot: NFH_HUMAN, P12036
  • Amyotrophic lateral sclerosis (ALS) [MIM:105400]: A neurodegenerative disorder affecting upper motor
    neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis.
    Sensory abnormalities are absent. The pathologic hallmarks of the disease include pallor of the corticospinal
    tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and
    deposition of pathologic aggregates. The etiology of amyotrophic lateral sclerosis is likely to be
    multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases.
    Note=Disease susceptibility is associated with variations affecting the gene represented in this entry

  • Selected diseases for NEFH (see all 35):    
    About MalaCards
    amyotrophic lateral sclerosis    toxic encephalopathy    motor neuron disease    hyperphenylalaninemia
    lateral sclerosis    traumatic brain injury    htlv-1 associated myelopathy/tropical spastic paraparesis    htlv-1 associated myelopathy
    leber hereditary optic neuropathy    tropical spastic paraparesis    spastic paraparesis    brain injury
    fibromatosis    frontotemporal dementia    pick's disease    neurofibromatosis
    spasticity    dementia    esophageal squamous cell carcinoma    choroiditis

    4 diseases from the University of Copenhagen DISEASES database for NEFH:
    Amyotrophic lateral sclerosis     Toxic encephalopathy     Neuropathy     Alzheimer's disease

    NEFH for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for NEFH gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    amyotrophic lateral sclerosis 74.8 4 8462101 (1), 7865504 (1), 11238716 (1), 18635547 (1)
    motor neuron disease 54.6 1 9689131 (1)
    neurodegenerative diseases 45.3 2 9215990 (1), 18635547 (1)
    neurodegeneration 41.3 1 7536898 (1)
    alzheimers disease 28.6 1 11852185 (1)
    atrophy 6.7 2 8462101 (1), 15541004 (1)
    neurological disorders 1.75 1 7865504 (1)

    Genetic Association Database (GAD): NEFH
    Human Genome Epidemiology (HuGE) Navigator: NEFH (4 documents)

    Export disorders for NEFH 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 NEFH gene, integrated from 10 sources (see all 117):
    (articles sorted by number of sources associating them with NEFH)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence. (PubMed id 19054571)1, 4 GregA^rio S.P....Dias-Neto E. (Psychiatry Res 2009)
    2. Analysis of heavy neurofilament subunit gene polymorphism in Russian patients with sporadic motor neuron disease (MND). (PubMed id 14722583)1, 4 Skvortsova V....Limborska S. (Eur. J. Hum. Genet. 2004)
    3. 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)
    4. [Association of homozygosity for short allele (S) of heavy neurofilament subunit gene with motor neuron disease and oxidative stress development]. (PubMed id 12674703)1, 4 Skvortsova V.I....Botvinko T.M. (Zh Nevrol Psikhiatr Im S S Korsakova 2003)
    5. Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10048485)1, 2 Nagase T.... Ohara O. (DNA Res. 1998)
    6. PKN associates and phosphorylates the head-rod domain of neurofilament protein. (PubMed id 8621664)1, 2 Mukai H.... Ono Y. (J. Biol. Chem. 1996)
    7. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. (PubMed id 7849698)1, 2 Figlewicz D.A.... Julien J.-P. (Hum. Mol. Genet. 1994)
    8. The structure and organization of the human heavy neurofilament subunit (NF-H) and the gene encoding it. (PubMed id 3138108)1, 2 Lees J.F.... Lazzarini R.A. (EMBO J. 1988)
    9. Phosphorylation state of the native high-molecular-weight neurofilament subunit protein from cervical spinal cord in sporadic amyotrophic lateral sclerosis. (PubMed id 11238716)1, 9 Strong M.J....Pant H.C. (J. Neurochem. 2001)
    10. Pin1-dependent prolyl isomerization modulates the stress-induced phosphorylation of high molecular weight neurofilament protein. (PubMed id 18635547)1, 9 Rudrabhatla P....Pant H.C. (J. Biol. Chem. 2008)

    (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: 4744 HGNC: 7737 AceView: NEFH Ensembl:ENSG00000100285 euGenes: HUgn4744
    ECgene: NEFH Kegg: 4744 H-InvDB: NEFH

    (According to HUGE)
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    HUGE: KIAA0845

    (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 NEFH Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org
    Alsodhttp://alsod.iop.kcl.ac.uk/Als/

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

    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, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, 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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