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

NEFM Gene

protein-coding   GIFtS: 63
GCID: GC08P024770

neurofilament, medium polypeptide

(Previous names: neurofilament, medium polypeptide 150kDa )
(Previous symbol: NEF3)
 Explore 25 diseases affiliated with
NEFM via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NEFM    

Aliases
for NEFM gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Neurofilament, Medium Polypeptide1 2     Neurofilament 32 3
NEF31 2 3 5     Neurofilament Triplet M Protein2 3
NFM1 2 3 5     160 KDa Neurofilament Protein2 3
NF-M1 2 3     Neurofilament Medium Polypeptide2
Neurofilament, Medium Polypeptide 150kDa1 2     Neurofilament-3 (150 KD Medium)2

External Ids:    HGNC: 77341   Entrez Gene: 47412   Ensembl: ENSG000001047227   OMIM: 1622505   UniProtKB: P071973   

Export aliases for NEFM gene to outside databases

Previous GC identifers: GC08P024828 GC08P023315


Summaries
for NEFM gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for NEFM:
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 medium neurofilament protein. This protein is
commonly used as a biomarker of neuronal damage. Alternative splicing results in multiple transcript variants encoding
distinct isoforms. (provided by RefSeq, Oct 2008)

UniProtKB/Swiss-Prot: NFM_HUMAN, P07197
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 NEFM


Genomic Views
for NEFM gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000008.10  NC_018919.1  NT_167187.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the NEFM gene promoter:
         Sox5   SREBP-1a   SREBP-1c   Cdc5   SREBP-1b   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: NEFM promoter sequence
   Search SABiosciences Chromatin IP Primers for NEFM

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


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

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

GeneLoc information about chromosome 8         GeneLoc Exon Structure

GeneLoc location for GC08P024770:  view genomic region     (about GC identifiers)

Start:
 24,770,525 bp from pter      End:
 24,776,607 bp from pter
Size:
 6,083 bases      Orientation:
 plus strand

Proteins
for NEFM gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: NFM_HUMAN, P07197 (See protein sequence)
Recommended Name: Neurofilament medium polypeptide  
Size: 916 amino acids; 102472 Da
Secondary accessions: B4DGN2 E9PBF7 Q4QRK6
Alternative splicing: 2 isoforms:  P07197-1   P07197-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for NEFM: NX_P07197

Post-translational modifications:

  • There are a number of repeats of the tripeptide K-S-P, NFM is phosphorylated on a number of the serines in this motif.
    • It is thought that phosphorylation of NFM 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
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P07197

    • NEFM Protein expression data from MOPED and PaxDb:    About this image 
    NEFM Protein Expression
    REFSEQ proteins (2 alternative transcripts): 
    NP_001099011.1  NP_005373.2  

    ENSEMBL proteins: 
     ENSP00000221166   ENSP00000427872   ENSP00000412295   ENSP00000410137  

    Human Recombinant Protein Products for NEFM: 
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    ProSpec Recombinant Protein for NEFM
    Uscn Proteins for NEFM

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005737cytoplasm IDA--
    GO:0005856cytoskeleton ----
    GO:0005882intermediate filament ----
    GO:0005883neurofilament IEA--
    GO:0030424axon TAS14662745

    NEFM for ontologies           About GeneDecksing



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    Protein Domains /
    Families
    for NEFM gene

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

    5 InterPro domains/families:
     IPR006821 Intermed_filament_DNA-bd
     IPR018039 Intermediate_filament_CS
     IPR001664 IF
     IPR016044 F
     IPR002957 Keratin_I

    Graphical View of Domain Structure for InterPro Entry P07197

    ProtoNet protein and cluster: P07197

    2 Blocks protein families:
    IPB001664 Intermediate filament protein
    IPB002957 Type I keratin signature


    UniProtKB/Swiss-Prot: NFM_HUMAN, P07197
    Similarity: Belongs to the intermediate filament family


    Function
    for NEFM gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, 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, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Molecular Function:

         UniProtKB/Swiss-Prot Summary: NFM_HUMAN, P07197
    Function: Neurofilaments usually contain three intermediate filament proteins: L, M, and H which are involved in the
    maintenance of neuronal caliber

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005198structural molecule activity ----
    GO:0005200structural constituent of cytoskeleton TAS3608989
    GO:0005515protein binding IPI--
         
    NEFM for ontologies           About GeneDecksing


    Phenotypes:
         5 MGI mutant phenotypes (inferred from 5 alleles) (MGI details for Nefm):
     behavior/neurological  cellular  homeostasis/metabolism  nervous system  reproductive system 

    NEFM for phenotypes           About GeneDecksing

    Animal Models:
         Mouse knock-outs for NEFM: Nefmtm1Ral Nefmtm1Jpj Nefmtm1Mvr
       inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for NEFM 

    miRNA
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    OriGene 3'-UTR Clone (see all 2): NEFM
    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEFM
    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate NEFM (see all 53):
    hsa-miR-548j hsa-let-7d hsa-miR-25 hsa-miR-30d hsa-let-7g hsa-miR-374c hsa-miR-30a hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmid: NEFM 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEFM (see all 7)
    OriGene shRNA RFP: NEFM
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    Sirion Biotech Custom design and validation of potent shRNA sequences against NEFM 

    Gene Editing
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    Clone
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    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for NEFM (see all 4)
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    Cell Line
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    In Situ Assay
    Products:       
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    Pathways & Interactions
    for NEFM gene

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

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Cytoskeleton remodeling Neurofilaments
    		Cytoskeleton remodeling Neurofilaments1.00
    		Cytoskeleton remodeling_Neurofilaments0.91
    2Neuroscience
    		Neuroscience1.00
    3Pathogenesis of ALS
    		Amyotrophic lateral sclerosis (ALS)0.30

    Pathway sources
    See GeneCards unified pathways
    Show all pathways

    1 EMD Millipore Pathway for NEFM
        Cytoskeleton remodeling Neurofilaments


    1 Cell Signaling Technology (CST) Pathway for NEFM
        Neuroscience

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


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


    NEFM for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NEFM

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    5/34 Interacting proteins for NEFM (P071971, 2, 3 ENSP000002211664) via UniProtKB, MINT, STRING, and/or I2D (see all 34)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    RB1P064001, 3EBI-1105035,EBI-491274 I2D: score=1 
    SMAD2Q157961, 3EBI-1105035,EBI-1040141 I2D: score=1 
    APOEP026493, ENSP000002524864I2D: score=2 STRING: ENSP00000252486
    JUNP054123, ENSP000003602664I2D: score=2 STRING: ENSP00000360266
    STXBP1P617643, ENSP000003623994I2D: score=1 STRING: ENSP00000362399
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000226microtubule cytoskeleton organization IEA--
    GO:0008088axon cargo transport IEA--
    GO:0031133regulation of axon diameter IEA--
    GO:0045104intermediate filament cytoskeleton organization ----
    GO:0045110intermediate filament bundle assembly IEA--

    NEFM for ontologies           About GeneDecksing



    Drugs & Compounds
    for NEFM gene

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

    NEFM for compounds           About GeneDecksing

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

    Browse Tocris compounds for NEFM
    10 Novoseek chemical compound relationships for NEFM gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    al3+ 57.3 2 8068639 (1), 8197154 (1)
    polyacrylamide 17.4 3 16292499 (2), 1492883 (1)
    serine 17 3 7891113 (1), 8197154 (1), 9118204 (1)
    retinoic acid 14.9 1 7609647 (1)
    proline 9.46 1 10841809 (1)
    glycogen 3.01 1 7891113 (1)
    oligonucleotide 0 1 1492883 (1)
    calcium 0 4 10381546 (2)
    superoxide 0 1 8871580 (1)
    alanine 0 2 8068639 (1), 8197154 (1)

    Search CenterWatch for drugs/clinical trials and news about NEFM / NFM 

    Transcripts
    for NEFM gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, Sirion Biotech, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for NEFM gene (2 alternative transcripts): 
    NM_001105541.1  NM_005382.2  

    Unigene Clusters for NEFM:

    Neurofilament, medium polypeptide
    Hs.458657  [show with all ESTs], Hs.730072
    Unigene Representative Sequences: BC096757, BC002421
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000221166(uc003xed.4) ENST00000523467 ENST00000518131(uc011lac.1)
    ENST00000521540 ENST00000433454(uc010lue.3) ENST00000522503 ENST00000437366


    miRNA
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    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEFM
    8/53 QIAGEN miScript miRNA Assays for microRNAs that regulate NEFM (see all 53):
    hsa-miR-548j hsa-let-7d hsa-miR-25 hsa-miR-30d hsa-let-7g hsa-miR-374c hsa-miR-30a hsa-miR-629*
    SwitchGear 3'UTR luciferase reporter plasmid: NEFM 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for NEFM (see all 7)
    OriGene shRNA RFP: NEFM
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    Clone
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    Primer
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    Additional cDNA sequence: BC002421.2 

    7 DOTS entries:

    DT.444572  DT.100745316  DT.87046487  DT.100674581  DT.100745466  DT.100811212  DT.91786446 

    24/135 AceView cDNA sequences (see all 135):

    BM726527 BP361818 BP360922 BP360275 BU195583 AA814709 AA080941 BQ723380 
    BU074241 BI493471 BP870610 BM894236 BX643276 BP360020 AW021068 BM709074 
    AA814646 AL537508 CR611974 BQ717059 CK001744 BQ722512 BQ717431 CK005403 

    GeneLoc Exon Structure


    Expression
    for NEFM gene

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

    NEFM expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: CACAGTTTGC
    NEFM Expression
    About this image

    NEFM expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table

    10/14 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 14) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    EyeInner Nuclear LayerMature Horizontal CellsHorizontal, Retina
    HeartPurkinje FibersPurkinje Fiber CellsMyocardium
    Gut TubeMidgutMidgut Endoderm CellsEndoderm
    OvaryOvigerous CordOvarian Somatic CellsOvary
    Spinal CordSpinal Dorsal ColumnsDorsal Spinal Cord Progenitor CellsSpinal Cord
    Spinal CordSpinal Ventral ColumnsVentral Spinal Cord Progenitor CellsMotor Neurons
    BoneMaxillary ProcessBone
    BrainMedulla OblongataBrain
    EyeRetinaEye
    Gut TubeMidgutGut Tube
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 3 LifeMap Cells 
    NameCategory
    PureStem™ progenitor EN7 (Embryonic Progenitor Cell)
    PureStem™ progenitor RASMO12 (Embryonic Progenitor Cell)
    Retinal progenitor-like cells (Generation of retina...)

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

    SOURCE GeneReport for Unigene clusters: Hs.458657 Hs.730072
        SABiosciences Custom PCR Arrays for NEFM
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    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEFM

    Orthologs
    for NEFM gene

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

    Orthologs for NEFM gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NEFM1 neurofilament, medium polypeptide 73.17(n)
    71.98(a)    		   396206  NM_001101730.1  NP_001095200.1 
    lizard
    (Anolis carolinensis)    		 Reptilia NEFM6
    --
    		 --
    		 58(a)
    2(a)
    		 1 ↔ 1
    possible ortholog
    		 GL343422.1(332555-343163)
    AAWZ02039762(4434-6932)
    African clawed frog
    (Xenopus laevis)    		 Amphibia LOC3979942 middle molecular weight neurofilament protein NF-M(1) 76.97(n)    U85969.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii nefma1 neurofilament, medium polypeptide a 64.8(n)
    59.54(a)    		   553718  NM_001111214.1  NP_001104684.1 
    worm
    (Caenorhabditis elegans)    		 Secernentea ifp-16
    ifc-26
    (see all 12)    		 Intermediate filament protein ifc-2
    (see all 12)    		 9(a)
    6(a)
    (see all 12)    		 possible ortholog
    possible ortholog
    (see all 12)    		 X(9675786-9680111)
    X(642160-654902)


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

    Paralogs
    for NEFM gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for NEFM gene
    LMNB12  SYNM2  VIM2  INA2  LMNA2  NES2  PRPH2  DES2  
    LMNB22  NEFH2  GFAP2  
    18/41 SIMAP similar genes for NEFM using alignment to 4 protein entries:     NFM_HUMAN (see all proteins) (see all similar genes):
    NEF3    KRT4    VIM    KRTHB6    KRT79    DES
    KRTHB1    INA    GFAP    DKFZp761K0922    tmp_locus_29    KRT5
    KRT8    KRT15    KRT75    K14    keratin    GUCA1B

    NEFM for paralogs           About GeneDecksing


    2 Pseudogenes.org Pseudogenes for NEFM
    PGOHUM00000238803 PGOHUM00000257184


    Genomic Variants
    for NEFM gene

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

    10/173 NCBI SNPs in NEFM are shown (see all 173)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 8 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs608570591,2
    		Cuntested23316114(+) TGGCTT/ACCGCT 3 /Y /F us2k1 mis12Minor allele frequency- A:0.00NA EU 3943
    rs590626251,2
    		C,Funtested23316397(+) GAGATT/GGAGGC 3 /M /I us2k1 mis12Minor allele frequency- G:0.00NA EU 4717
    rs592220961,2
    		C,Funtested23316457(+) GACGCG/CTACGA 3 /A us2k1 syn11Minor allele frequency- C:0.00NA 3818
    rs576885341,2
    		Cuntested23316847(+) GAAAGC/ACACTC 3 /R /S us2k1 mis11Minor allele frequency- A:0.00EU 1323
    rs594190001,2
    		C,Funtested23317845(+) GAAAAT/CGAGCT 3 /N ut51 syn13Minor allele frequency- C:0.01NS NA EU 5947
    rs598532921,2
    		Cuntested23319492(+) CCCTGA/C/GCAGCC 6 T P A mis10--------
    rs615283541,2
    		C,Funtested23319495(+) TGACAG/ACCATT 4 /T /A mis12Minor allele frequency- A:0.01NA EU 5875
    rs597266841,2
    		C,Funtested23320161(+) AAGTGG/CGGAAA 4 /R /G mis12Minor allele frequency- C:0.01NS NA 4574
    rs578102981,2
    		C,Funtested23320225(+) GAAGGT/CAGAGA 4 /A /V mis11Minor allele frequency- C:0.00NA 3038
    rs1968631,2
    		C,F,Huntested23320246(-) cctttG/Tgtttc 4 Q P mis1 ese314Minor allele frequency- T:0.01MN NS EA NA WA 4166

    HapMap Linkage Disequilibrium report for NEFM (24770525 - 24776607 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for NEFM: --
    Human Gene Mutation Database (HGMD): NEFM

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing NEFM
    DNA2.0 Custom Variant and Variant Library Synthesis for NEFM

    Disorders / Diseases
    for NEFM gene

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

    OMIM gene information: 162250    OMIM disorders: --

    20/25 diseases for NEFM (see all 25):    About MalaCards
    charcot-marie-tooth disease    charcot-marie-tooth disease type 2    wallerian degeneration    amyotrophic lateral sclerosis (als)
    focal cortical dysplasia    amyotrophic lateral sclerosis    lateral sclerosis    tooth disease
    neuronitis    toxic encephalopathy    motor neuron disease    down syndrome
    pick's disease    embryonal carcinoma    alzheimer's disease    neurodegeneration
    teratocarcinoma    parkinson's disease    choroiditis    pharyngitis

    3 diseases from the University of Copenhagen DISEASES database for NEFM:
    Amyotrophic lateral sclerosis     Toxic encephalopathy     Neuropathy

    4 Novoseek disease relationships for NEFM gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    wallerian degeneration 43 1 9373038 (1)
    neurodegeneration 29.6 1 14583397 (1)
    down syndrome 21.9 1 11764410 (1)
    alzheimers disease 19.5 3 11764410 (1), 11852185 (1), 8068639 (1)

    Human Genome Epidemiology (HuGE) Navigator: NEFM (3 documents)

    Export disorders for NEFM gene to outside databases

    Publications
    for NEFM gene

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

    PubMed articles for NEFM gene, integrated from 9 sources (see all 118):
    (articles sorted by number of sources associating them with NEFM)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. RFLP for BgI II at the human neurofilament medium chain (NEF3) gene locus. (PubMed id 1348579)1, 3 Ding Y....Price R.A. (1992)
    2. Identification of the major multiphosphorylation site in mammalian neurofilaments. (PubMed id 2450354)1, 2 Lee V.M.-Y....Lazzarini R.A. (1988)
    3. The human mid-size neurofilament subunit: a repeated protein sequence and the relationship of its gene to the intermediate filament gene family. (PubMed id 3608989)1, 2 Myers M.W.... Nelson D.L. (1987)
    4. Mutation analysis of the neurofilament M gene in Parkinson's disease. (PubMed id 14583397)1, 9 Kruger R....Schols L. (2003)
    5. Functional dissection of lysine deacetylases reveals t hat HDAC1 and p300 regulate AMPK. (PubMed id 22318606)1 Lin Y.Y....Boeke J.D. (2012)
    6. Functional proteomics establishes the interaction of S IRT7 with chromatin remodeling complexes and expands its role in regulation of R NA polymerase I transcription. (PubMed id 22586326)1 Tsai Y.C....Cristea I.M. (2012)
    7. Initial characterization of the human central proteome. (PubMed id 21269460)2 Burkard T.R.... Colinge J. (2011)
    8. Deregulation of microRNAs by HIV-1 Vpr protein leads t o the development of neurocognitive disorders. (PubMed id 21816823)1 Mukerjee R....Sawaya B.E. (2011)
    9. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (2011)
    10. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)1 Danielsen J.M....Nielsen M.L. (2011)

    External Searches for NEFM gene

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

    Genome Databases showing NEFM gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4741 HGNC: 7734 AceView: NEF3 Ensembl:ENSG00000104722 euGenes: HUgn4741
    ECgene: NEFM Kegg: 4741 H-InvDB: NEFM

    Other Databases showing NEFM gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NEFM gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for NEFM Pharmacogenomics, SNPs, Pathways
    Human Intermediate Filament Mutation Databasehttp://www.interfil.org

    Intellectual Property
    for NEFM gene

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

    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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