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

NEFH Gene

protein-coding   GIFtS: 65
GCID: GC22P029876

Neurofilament, Heavy Polypeptide

(Previous names: neurofilament, heavy polypeptide 200kDa)
Alzheimer's & Parkinson's Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Neurofilament, 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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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 toxic encephalopathy, and lateral sclerosis, and among its related super-pathways are Cytoskeleton remodeling Neurofilaments and Pathogenesis of ALS. GO annotations related to this gene include molecular_function. An important paralog of this gene is LMNB1.

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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000022.10  NT_011520.12  NC_018933.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for NEFH

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

UniProtKB/Swiss-Prot: 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:

  • UniProtKB: 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 caliber
  • UniProtKB: 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 function
  • UniProtKB: Phosphorylated in the head and rod regions by the PKC kinase PKN1, leading to the inhibition of polymerization
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P12036

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

    NEFH Protein Expression
    REFSEQ proteins: NP_066554.2  
    ENSEMBL proteins: 
     ENSP00000311997  

    Human Recombinant Protein Products for NEFH: 
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    Cloud-Clone Corp. Proteins for NEFH 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IEA--
    GO:0005883neurofilament NAS3138108
    GO:0030424axon TAS14662745

    NEFH for ontologies           About GeneDecksing



    NEFH Antibody Products: 
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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)
    About This Section
    HGNC Gene Families: 
    IFF4: Intermediate filaments type IV

    3 InterPro protein domains:
     IPR018039 Intermediate_filament_CS
     IPR010790 DUF1388
     IPR016044 F

    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: 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): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0005198structural molecule activity IEA--
         
    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 - Custom generated mouse model solutions for NEFH 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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
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    8/11 QIAGEN miScript miRNA 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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    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for NEFH About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Cytoskeleton remodeling Neurofilaments
    Cytoskeleton remodeling Neurofilaments0.91
    2Pathogenesis of ALS
    Amyotrophic lateral sclerosis (ALS)0.31
    3Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for NEFH
        Cytoskeleton remodeling Neurofilaments


    1 Cell Signaling Technology (CST) Pathway for NEFH
        Neuroscience

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


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


    NEFH for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NEFH

    STRING Interaction Network Preview (showing 5 interactants - click image to see 17)

    5/23 Interacting proteins for NEFH (P120363 ENSP000003119974) via UniProtKB, MINT, STRING, and/or I2D (see all 23)
    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): 5/7 biological process terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0007399nervous system development NAS--
    GO:0008219cell death IEA--
    GO:0045104intermediate filament cytoskeleton organization ----
    GO:0045110intermediate filament bundle assembly IEA--

    NEFH for ontologies           About GeneDecksing



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

    NEFH for compounds           About GeneDecksing

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

    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)

    Search CenterWatch for drugs/clinical trials and news about NEFH / NFH

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

    REFSEQ mRNAs for 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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    8/11 QIAGEN miScript miRNA 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
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    Additional mRNA sequence: 

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

    3 DOTS entries:

    DT.100735684  DT.214057  DT.91728428 

    24/66 AceView cDNA sequences (see all 66):

    NM_021076 BE223015 AI371980 AW273707 AA324742 AB020652 BU726087 BE670208 
    AI420558 BV189324 AA902752 BF110709 BQ636126 BP361748 BX951943 BE251014 
    AI659836 BQ721646 BU170589 CF456032 BG470700 AI686398 AI202249 AI828868 

    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™, 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

    NEFH expression in normal human tissues (normalized intensities)      NEFH embryonic expression: see
    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 
     5/14 selected tissues (see all 14) fully expand
     
     Brain (Nervous System)    fully expand to see all 24 entries
             Thalamus
             Trigeminal Ganglion   
     
     Spinal Cord (Nervous System)    fully expand to see all 4 entries
             Superior Cervical Ganglion   
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
     
     Peripheral Nervous System (Nervous System)    fully expand to see all 2 entries
             colon ; peripheral nerve/ganglion   
             PERIPHERAL NERVOUS SYSTEM   
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hematopoietic Stem Cells Liver Bud

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

    SOURCE GeneReport for Unigene cluster: Hs.198760
        SABiosciences Expression via Pathway-Focused PCR Array including NEFH: 
              Terminal Differentiation Markers in human mouse rat

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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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for NEFH gene from 4/9 species (see all 9)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nefh1 , 5 neurofilament, heavy polypeptide1, 5 80.93(n)1
    81.67(a)1
      11 (3.12 cM)5
    3806841  NM_010904.31  NP_035034.21 
     49387545 
    chicken
    (Gallus gallus)
    Aves NEFH1 neurofilament, heavy polypeptide 66.09(n)
    63.44(a)
      417020  XM_415310.3  XP_415310.3 
    lizard
    (Anolis carolinensis)
    Reptilia --
    NEFH6
    Uncharacterized protein
    36(a)
    31(a)
    possible ortholog
    1 ↔ 1
    AAWZ02037225(8666-15188)
    GL343417.1(60084-68279)
    zebrafish
    (Danio rerio)
    Actinopterygii zgc:658516
    nefmb6
    (see all 3)
    neurofilament, medium polypeptide b
    (see all 3)
    33(a)
    32(a)
    (see all 3)
    possible ortholog
    1 ↔ 1
    (see all 3)
    5(14877539-14890972)
    8(7433111-7436536)


    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)
    About This Section
    Paralogs for NEFH gene
    LMNB12  VIM2  INA2  LMNA2  PRPH2  NEFM2  DES2  LMNB22  
    GFAP2  
    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) 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

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


    10/409 SNPs in NEFH are shown (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
    SABiosciences Cancer Mutation PCR Assays
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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 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

  • 20/29 diseases for NEFH (see all 29):    About MalaCards
    toxic encephalopathy    lateral sclerosis    motor neuron disease    hyperphenylalaninemia
    amyotrophic lateral sclerosis    tropical spastic paraparesis    spastic paraparesis    leber hereditary optic neuropathy
    fibromatosis    frontotemporal dementia    pick's disease    neurofibromatosis
    spasticity    dementia    esophageal squamous cell carcinoma    choroiditis
    traumatic brain injury    neuronitis    paralysis    alzheimer's disease

    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


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

    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

    PubMed articles for NEFH gene, integrated from 9 sources (see all 115):
    (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. (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. (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. (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. (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. (1998)
    6. PKN associates and phosphorylates the head-rod domain of neurofilament protein. (PubMed id 8621664)1, 2 Mukai H....Ono Y. (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. (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. (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. (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. (2008)

    (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)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4744 HGNC: 7737 AceView: NEFH Ensembl:ENSG00000100285 euGenes: HUgn4744
    ECgene: NEFH Kegg: 4744 H-InvDB: NEFH

    (According to HUGE)
    About This Section
    HUGE: KIAA0845

    (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 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.)
    About This Section
    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



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    About This Section

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

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