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NEB Gene

protein-coding   GIFtS: 60
GCID: GC02M152306

Nebulin


(Previous symbol: NEM2)
  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
nebulin1 2
NEM21 2 5
Nemaline Myopathy Type 21 2
NEB177D2

External Ids:    HGNC: 77201   Entrez Gene: 47032   Ensembl: ENSG000001830917   OMIM: 1616505   UniProtKB: P209293   

Export aliases for NEB gene to outside databases

Previous GC identifers: GC02M150163 GC02M150870 GC02M152544 GC02M152167 GC02M152050 GC02M144238


(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 NEB Gene:
This gene encodes nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and
thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the
total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be
classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to
alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin
gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of
the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three
representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. (provided
by RefSeq, Sep 2009)

GeneCards Summary for NEB Gene:
NEB (nebulin) is a protein-coding gene. Diseases associated with NEB include nemaline myopathy 2, and severe congenital nemaline myopathy. GO annotations related to this gene include structural constituent of muscle and actin binding. An important paralog of this gene is NRAP.

UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929
Function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the
membrane system associated with the myofibrils. Binds and stabilize F-actin




(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_000002.12  NT_005403.18  NC_018913.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEB gene promoter:
         USF1   Nkx2-2   STAT5A   NF-AT   C/EBPalpha   NF-AT2   USF-1   NF-AT3   RSRFC4   NF-AT1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEB promoter sequence
   Search Chromatin IP Primers for NEB

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


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

Entrez Gene cytogenetic band: 2q22   Ensembl cytogenetic band:  2q23.3   HGNC cytogenetic band: 2q22

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

GeneLoc information about chromosome 2         GeneLoc Exon Structure

GeneLoc location for GC02M152306:  view genomic region     (about GC identifiers)

Start:
152,341,850 bp from pter      End:
152,591,001 bp from pter
Size:
249,152 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, 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: NEBU_HUMAN, P20929 (See protein sequence)
Recommended Name: Nebulin  
Size: 6669 amino acids; 772927 Da
Subunit: Interacts with TTN/titin. Interacts with SVIL
2 PDB 3D structures from and Proteopedia for NEB:
1ARK (3D)        1NEB (3D)    
Secondary accessions: Q15346 Q53QQ2 Q53TG8

Explore the universe of human proteins at neXtProt for NEB: NX_P20929

Explore proteomics data for NEB at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (4 alternative transcripts): 
    NP_001157979.1  NP_001157980.1  NP_001258137.1  NP_004534.2  

    ENSEMBL proteins: 
     ENSP00000386259   ENSP00000380498   ENSP00000410961   ENSP00000389074   ENSP00000474498  
     ENSP00000473894   ENSP00000408570   ENSP00000404876   ENSP00000405167   ENSP00000380505  
     ENSP00000416578   ENSP00000172853   ENSP00000427083   ENSP00000380497  
    Reactome Protein details: P20929

    NEB Human Recombinant Protein Products:

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    Browse OriGene Protein Over-expression Lysates
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    GenScript Custom Purified and Recombinant Proteins Services for NEB
    Novus Biologicals NEB Protein
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NEB

    NEB Antibody Products:

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    LSBio Antibodies in human, mouse, rat for NEB

    NEB Assay Products:

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    Cloud-Clone Corp. ELISAs for NEB
    Cloud-Clone Corp. CLIAs for NEB


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    3 InterPro protein domains:
     IPR000900 Nebulin_repeat
     IPR013998 Nebulin
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry P20929

    ProtoNet protein and cluster: P20929

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929
    Similarity: Contains 178 nebulin repeats
    Similarity: Contains 1 SH3 domain


    NEB 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: NEBU_HUMAN, P20929
    Function: This giant muscle protein may be involved in maintaining the structural integrity of sarcomeres and the
    membrane system associated with the myofibrils. Binds and stabilize F-actin

         Genatlas biochemistry entry for NEB:
    nebulin,helical actin binding protein,of the skeletal muscle,involved in the length regulation of the thin
    filament

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI12482578
    GO:0008307structural constituent of muscle TAS7739042
         
    NEB for ontologies           About GeneDecksing


    Phenotypes:
         7 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Neb):
     adipose tissue  behavior/neurological  growth/size/body  mortality/aging  muscle 
     skeleton  vision/eye 

    NEB for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Nebtm1Slbt for NEB

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

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

    miRNA
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    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for NEB
    Predesigned siRNA for gene silencing in human, mouse, rat NEB

    Gene Editing
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    DNA2.0 Custom Protein Engineering Service for NEB

    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 3): NEB (NM_004543)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEB
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NEB

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEB


    (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 UniProtKB/Swiss-Prot
    NEBU_HUMAN, P20929: Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol4
    nucleus2
    plasma membrane1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton TAS7739042
    GO:0030018Z disc IDA9501083
    GO:0043292contractile fiber ----
    GO:0070062extracellular vesicular exosome IDA19056867

    NEB 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 NEB About    
    See pathways by source

    SuperPathContained pathways About
    1Striated Muscle Contraction
    Striated Muscle Contraction0.82
    Muscle contraction0.61
    Striated Muscle Contraction0.82

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 BioSystems Pathway for NEB
        Striated Muscle Contraction

    1 Reactome Pathway for NEB
        Striated Muscle Contraction



    NEB for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Array including NEB: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for NEB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for NEB (P209291, 2, 3 ENSP000003862594) via UniProtKB, MINT, STRING, and/or I2D (see all 63)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTNQ8WZ421, 2, 3EBI-1049657,EBI-681210 MINT-2882539 MINT-7032264 MINT-2882627 MINT-2882669 MINT-7032305 MINT-7032278 I2D: score=2 
    MYPNQ86TC91, 2, 3, ENSP000003517904EBI-1049657,EBI-2562606 MINT-7032393 MINT-7032374 I2D: score=3 STRING: ENSP00000351790
    ABI1Q8IZP02, 3, ENSP000003653124MINT-45992 I2D: score=3 STRING: ENSP00000365312
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503630 I2D: score=2 STRING: ENSP00000363390
    CAPZA1P529072, 3, ENSP000002631684MINT-2882710 I2D: score=1 STRING: ENSP00000263168
    About this table

    Gene Ontology (GO): 5 biological process terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0007517muscle organ development TAS7739042
    GO:0007525somatic muscle development NAS7739042
    GO:0030049muscle filament sliding TAS--
    GO:0030832regulation of actin filament length NAS7739042
    GO:0055114oxidation-reduction process ----

    NEB 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 NEB (NEBU)

    9 Novoseek inferred chemical compound relationships for NEB gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    phalloidin 49.4 13 17131830 (4), 8586652 (3), 9258508 (1), 14714525 (1)
    quin2 49.3 1 1295887 (1)
    actomyosin 44.5 7 7918483 (2), 11170442 (1)
    ryanodine 18.2 2 9713857 (1), 17157023 (1)
    calcium 8.98 9 1295887 (2), 7918483 (2), 9398354 (1), 11425319 (1) (see all 5)
    polyacrylamide 0 1 7710083 (1)
    tyrosine 0 2 8774733 (1)
    glycogen 0 1 17055998 (1)
    paclitaxel 0 1 8816284 (1)



    NEB 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 NEB gene (4 alternative transcripts): 
    NM_001164507.1  NM_001164508.1  NM_001271208.1  NM_004543.4  

    Unigene Cluster for NEB:

    Nebulin
    Hs.588655  [show with all ESTs]
    Unigene Representative Sequence: NM_001271208
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 21):
    ENST00000409198(uc021vrb.1 uc010fnx.3 uc021vrd.1) ENST00000397337(uc010zbz.2 uc002txq.3 uc010zca.2 uc010zcb.2)
    ENST00000413693 ENST00000434685 ENST00000604864 ENST00000603639 ENST00000497809
    ENST00000498015 ENST00000421461 ENST00000424585 ENST00000483418 ENST00000480784
    ENST00000420924 ENST00000486320 ENST00000484968 ENST00000489048(uc010fny.2)
    ENST00000397345(uc021vrc.1) ENST00000427231(uc002txt.4 uc002txr.3 uc002txu.3)

    miRNA
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEB
    Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat NEB
    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEB
      QuantiTect SYBR Green Assays in human, mouse, rat NEB
      QuantiFast Probe-based Assays in human, mouse, rat NEB

    Additional mRNA sequence: 

    AK056994.1 AK096887.1 AK096903.1 AK129532.1 AK300079.1 AK300674.1 AK300722.1 AK307607.1 
    BC012533.1 BC022421.2 BC029384.1 BC050436.1 BC056251.1 BC063136.1 BC105590.1 BX648963.1 
    M19669.1 U35637.1 X58122.1 

    Selected DOTS entries (see all 25):

    DT.100789218  DT.118717  DT.101962653  DT.97769736  DT.101980156  DT.100789214  DT.100789215  DT.40251008 
    DT.40277813  DT.100789219  DT.91711045  DT.91761044  DT.40117385  DT.95279559  DT.99978173  DT.75188871 
    DT.95272576  DT.100810622  DT.120963280  DT.120963288  DT.91905447  DT.91971823  DT.100736202  DT.95203257 

    Selected AceView cDNA sequences (see all 240):

    CF552671 AA086222 AK093855 BF672047 AL596572 BM698827 AI459098 BM724539 
    BF111460 AL596549 BM699500 CF552863 AI283055 BQ932701 AK056994 BX283647 
    U35636 AI079911 AA328178 BX500189 AL597812 BQ884286 T31470 CF552133 

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


    NEB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 14 entries
             Multinuclear Myocytes Lumbar Back Muscles
     
     Limb (Muscoskeletal System)    fully expand to see all 4 entries
             Multinuclear Myocytes Forelimb Dorsal Muscles
     
     Adipose (Muscoskeletal System)
             Interscapular Brown Adipose Depot
     
     Brain (Nervous System)
             Cerebellum
     
     Thyroid (Endocrine System)
    NEB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.588655

    UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929
    Tissue specificity: Muscle specific. Located in the thin filament of striated muscle

        Pathway & Disease-focused RT2 Profiler PCR Array including NEB: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

    Primer
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    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEB
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEB

    (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 NEB gene from Selected species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Neb1 , 5 nebulin1, 5 73.43(n)1
    71.7(a)1
      2 (29.98 cM)5
    179961  NM_010889.11  NP_035019.11 
     521366625 
    chicken
    (Gallus gallus)
    Aves NEB1 nebulin 58.71(n)
    51.42(a)
      374027  XM_422163.4  XP_422163.4 
    lizard
    (Anolis carolinensis)
    Reptilia NEB6
    nebulin
    74(a)
    1 ↔ 1
    GL343302.1(1360836-1567299)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.96552 Xenopus laevis transcribed sequence with moderate similarity more 83.75(n)    CB941530.1 
    zebrafish
    (Danio rerio)
    Actinopterygii neb6
    nebulin
    59(a)
    1 ↔ 1
    9(23838483-23926183) ENSDARG00000032630
    worm
    (Caenorhabditis elegans)
    Secernentea F42H10.36
    Protein F42H10.3, isoform a (F42H10.3) mRNA, compl...
    27(a)
    1 → many
    III(8484158-8488365) WBGene00018367


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NEB gene
    NRAP2  LASP12  NEBL2  
    6 SIMAP similar genes for NEB using alignment to 19 protein entries:     NEBU_HUMAN (see all proteins):
    SH3RF3    ARHGEF7    SH3GL2    NRAP    NEBL    SH3GL1

    NEB for paralogs           About GeneDecksing



    (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 NEB (see all 5089)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 2 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs2005450071,2
    Cuntested1152522801(+) CTCACA/GATCAG 8 R C mis10--------
    rs2019410101,2
    Cuntested1152581424(+) TTTTTC/TATCTA 8 K E mis11Minor allele frequency- T:0.00EU 593
    rs784814381,2
    F--152341383(+) TGGCAT/CAGAGG 4 -- ds50011Minor allele frequency- C:0.01EA 120
    rs1812438821,2
    --152341405(+) CATTCA/GCAAGT 4 -- ds50010--------
    rs1507555831,2
    --152341764(+) TTTTAA/GTAATT 4 -- ds50010--------
    rs1864052601,2
    --152341818(+) AAACCA/GTTAAA 4 -- ds50010--------
    rs1122141441,2
    C--152341852(+) ACAGAG/TTTGCA 4 -- ds50010--------
    rs595099521,2
    C--152342009(+) AATCC-/CTGTTTT 4 -- ut310--------
    rs1164436561,2
    C,F--152342053(+) TGGAGA/GAAGAC 4 -- ut311Minor allele frequency- G:0.00WA 118
    rs10613171,2
    C,F,H--152342062(-) GTGCCT/CAGAGT 4 -- ut31 ese36Minor allele frequency- C:0.00MN NS EA NA 604

    HapMap Linkage Disequilibrium report for NEB (152341850 - 152591001 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for NEB (see all 15):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2720959CNV Deletion23290073
    nsv471510CNV Duplication19718026
    nsv2978CNV Insertion18451855
    nsv226CNV Insertion15895083
    nsv2973CNV Insertion18451855
    nsv2975CNV Insertion18451855
    nsv2976CNV Insertion18451855
    nsv2974CNV Loss18451855
    nsv10198CNV Loss18304495
    nsv437298CNV Loss16327808

    Human Gene Mutation Database (HGMD): NEB
    Locus Specific Mutation Databases (LSDB): NEB

    Site Specific Mutation Identification with PCR Assays
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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: 161650   
    OMIM disorders: 256030  
    UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929
  • Nemaline myopathy 2 (NEM2) [MIM:256030]: A form of nemaline myopathy. Nemaline myopathies are muscular
    disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped
    structures in muscle fibers on histologic examination. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • Selected diseases for NEB (see all 22):    
    About MalaCards
    nemaline myopathy 2    severe congenital nemaline myopathy    nemaline myopathy 2, autosomal recessive    neb-related nemaline myopathy
    nemaline myopathy    myopathy    intermediate nemaline myopathy    typical nemaline myopathy
    childhood-onset nemaline myopathy    dystrophinopathies    myopathy congenital    polymyositis
    myositis    protein s deficiency    hypotonia    graves' disease
    muscular dystrophy    neuropathy    cervicitis    leukemia

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

    NEB for disorders           About GeneDecksing

    9 Novoseek inferred disease relationships for NEB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    nemaline myopathy autosomal recessive 96.2 8 9359044 (1), 15266303 (1), 10334479 (1), 10590887 (1) (see all 5)
    myopathies nemaline 95.2 29 15336686 (3), 11257470 (2), 11257471 (2), 9713857 (1) (see all 20)
    nemaline myopathy autosomal dominant 88.4 1 11731279 (1)
    myopathy, congenital 83 2 7608737 (1), 17303423 (1)
    myopathy 72.1 4 11882289 (1), 17157023 (1), 8307566 (1)
    muscular dystrophies 55 4 17303423 (1), 8307566 (1), 11699871 (1)
    central core disease 53.4 1 9713857 (1)
    limb girdle 45.4 1 11699871 (1)
    myositis 14.3 2 8307566 (1)

    GeneTests: NEB
    GeneReviews: NEB
    Genetic Association Database (GAD): NEB
    Human Genome Epidemiology (HuGE) Navigator: NEB (4 documents)

    Export disorders for NEB 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 NEB gene, integrated from 10 sources (see all 187):
    (articles sorted by number of sources associating them with NEB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. (PubMed id 10051637)1, 2, 3, 9 Pelin K.... Wallgren-Pettersson C. (Proc. Natl. Acad. Sci. U.S.A. 1999)
    2. The complete primary structure of human nebulin and its correlation to muscle structure. (PubMed id 7739042)1, 2, 9 Labeit S. and Kolmerer B. (J. Mol. Biol. 1995)
    3. Cloning, expression, and protein interaction of human nebulin fragments composed of varying numbers of sequence modules. (PubMed id 1682316)1, 2, 9 Jin J.P. and Wang K. (J. Biol. Chem. 1991)
    4. SH3 in muscles: solution structure of the SH3 domain from nebulin. (PubMed id 9514727)1, 2, 9 Politou A.S.... Pastore A. (J. Mol. Biol. 1998)
    5. Refined localisation of the genes for nebulin and titin on chromosome 2q allows the assignment of nebulin as a candidate gene for autosomal recessive nemaline myopathy. (PubMed id 9359044)1, 3, 9 Pelin K....Wallgren-Petterson C. (Eur. J. Hum. Genet. 1997)
    6. Interaction of nebulin SH3 domain with titin PEVK and myopalladin: implications for the signaling and assembly role of titin and nebulin. (PubMed id 12482578)1, 2, 9 Ma K. and Wang K. (FEBS Lett. 2002)
    7. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    8. Archvillin anchors in the Z-line of skeletal muscle via the nebulin C-terminus. (PubMed id 18639526)1, 2 Lee M.-A.... Kim C.-R. (Biochem. Biophys. Res. Commun. 2008)
    9. Cloning and expression of human nebulin cDNAs and assignment of the gene to chromosome 2q31-q32. (PubMed id 3397062)1, 2 Zeviani M.... Schon E.A. (Genomics 1988)
    10. Nebulin regulates actin filament lengths by a stabilization mechanism. (PubMed id 20498015)1, 9 Pappas C.T....Gregorio C.C. (J. Cell Biol. 2010)

    (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: 4703 HGNC: 7720 AceView: NEB Ensembl:ENSG00000183091 euGenes: HUgn4703
    ECgene: NEB H-InvDB: NEB

    (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 NEB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NEB Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=NEB[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 NEB gene:
    Search GeneIP for patents involving NEB

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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