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

NEB Gene

protein-coding   GIFtS: 60
GCID: GC02M152306

nebulin


(Previous symbol: NEM2)
 Explore 13 diseases affiliated with
NEB via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for NEB    

Aliases
for NEB gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Nebulin1
NEM21 2 5
NEB177D1 2
Nemaline Myopathy Type 22

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


Summaries
for NEB 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 NEB:
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)

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




Genomic Views
for NEB 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_000002.11  NC_018913.1  NT_005403.17  
Regulatory elements:
   SABiosciences 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 plasmid: NEB promoter sequence
   Search SABiosciences Chromatin IP Primers for NEB

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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

Proteins
for NEB 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: NEBU_HUMAN, P20929 (See protein sequence)
Recommended Name: Nebulin  
Size: 6669 amino acids; 772927 Da
Subunit: Interacts with TTN/titin. Interacts with SVIL
Subcellular location: Cytoplasm, myofibril, sarcomere. Cytoplasm, cytoskeleton
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P20929

    • NEB Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

    ENSEMBL proteins: 
     ENSP00000386259   ENSP00000380498   ENSP00000410961   ENSP00000389074   ENSP00000408570  
     ENSP00000404876   ENSP00000405167   ENSP00000380505   ENSP00000416578   ENSP00000172853  
     ENSP00000427083   ENSP00000380497  
    Reactome Protein details: P20929
    Human Recombinant Protein Products: 
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    Browse OriGene Protein Over-expression Lysates
    OriGene Custom Protein Services for NEB 
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    Novus Biologicals NEB Protein
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for NEB

    Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton TAS7739042
    GO:0030016myofibril ----
    GO:0030018Z disc IDA9501083


    NEB for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for NEB

    Protein Domains /
    Families
    for NEB gene

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

    3 InterPro domains/families:
     IPR000900 Nebulin_35r-motif
     IPR013998 Nebulin
     IPR001452 SH3_domain

    Graphical View of Domain Structure for InterPro Entry P20929

    ProtoNet protein and cluster: P20929

    1 Blocks protein family: IPB001452 SH3 domain signature

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


    Function
    for NEB gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         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

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

    miRNA
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    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0008307structural constituent of muscle TAS7739042


    NEB for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-out Nebtm1Slbt for NEB
         7 MGI mutant phenotypes (inferred from 2 alleles) (MGI details for Neb):
     adipose tissue  behavior/neurological  growth/size  mortality/aging  muscle 
     skeleton  vision/eye 

    NEB for phenotypes           About GeneDecksing


    Pathways & Interactions
    for NEB 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
    1Striated Muscle Contraction
    		Striated Muscle Contraction1.00
    		Muscle contraction0.65
    		Striated Muscle Contraction0.87

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    1 BioSystems Pathway for NEB 
        Striated Muscle Contraction

    2        Reactome Pathways for NEB
        Muscle contraction
    Striated Muscle Contraction



    NEB for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for NEB

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

    5/54 Interacting proteins for NEB (P209291, 2, 3 ENSP000003862594) via UniProtKB, MINT, STRING, and/or I2D (see all 54)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TTNQ8WZ422, 3MINT-2882539 MINT-7032264 MINT-2882627 MINT-2882669 MINT-7032305 MINT-7032278 I2D: score=2 
    MYPNQ86TC92, 3, ENSP000003517904MINT-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): 4 biological process terms (GO ID links to tree view):    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


    NEB for ontologies           About GeneDecksing



    Drugs & Compounds
    for NEB 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

    NEB for compounds           About GeneDecksing

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

    Browse Tocris compounds for NEB
    9 Novoseek 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)

    Search CenterWatch for drugs/clinical trials and news about NEB / NEBU 

    Transcripts
    for NEB 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, 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 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
    18/19 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 19):
    ENST00000409198(uc021vrb.1 uc010fnx.3 uc021vrd.1) ENST00000397337(uc010zbz.2 uc002txq.3 uc010zca.2 uc010zcb.2)
    ENST00000413693 ENST00000434685 ENST00000497809 ENST00000498015 ENST00000421461
    ENST00000424585 ENST00000483418 ENST00000480784 ENST00000420924 ENST00000486320
    ENST00000484968 ENST00000489048(uc010fny.2) ENST00000397345(uc021vrc.1)
    ENST00000427231(uc002txt.4 uc002txr.3 uc002txu.3) ENST00000172853
    ENST00000509223

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat NEB
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    SwitchGear 3'UTR luciferase reporter plasmid: NEB 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 NEB (see all 4)
    OriGene shRNA RFP: NEB
    OriGene siRNA: NEB
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat NEB
    Clone
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    Primer
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat NEB
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    Additional cDNA 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 

    24/25 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 

    24/240 AceView cDNA sequences (see all 240):

    BF672047 AK093855 AA086222 CF552671 BQ771579 AL596572 CF552133 AI459098 
    BC063136 BX499979 AH003593 T31470 AL597812 BQ884286 BX500189 AI079911 
    BX283647 AA328178 U35636 AA086272 U35637 F24278 F36900 BQ923991 

    GeneLoc Exon Structure


    Expression
    for NEB 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

    NEB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: AAAGTGAAAA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    NEB expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    10/15 LifeMap In Vivo Development Anatomical Compartments/Cells (see all 15) 
    Tissue Anatomical Compartment CellCategory (developmental path)
    LimbForelimb Dorsal MusclesMultinuclear MyocytesSkeletal Muscle
    LimbForelimb Ventral MusclesMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Dorsal MuscleMultinuclear MyocytesSkeletal Muscle
    LimbHindlimb Ventral MuscleMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleAnterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleCervical Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Back MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MuscleLumbar Vertebrae Column MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePelvic MusclesMultinuclear MyocytesSkeletal Muscle
    Skeletal MusclePosterior Neck MusclesMultinuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Mesendoderm-like cells (Generation of mesend...)

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

    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

        SABiosciences Expression via Pathway-Focused PCR Array including NEB: 
              Skeletal Muscle: Myogenesis & Myopathy in human mouse rat

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    In Situ
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    Orthologs
    for NEB 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 NEB gene from 6/19 species (see all 19)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    chicken
    (Gallus gallus)    		 Aves NEB1 nebulin 67.97(n)
    65.79(a)    		   374027  XM_422163.3  XP_422163.3 
    lizard
    (Anolis carolinensis)    		 Reptilia NEB6
    		 --
    		 72(a)
    		 1 ↔ 1
    		 GL343302.1(1362296-1567299)
    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
    		 58(a)
    		 1 ↔ 1
    		 9(23838483-23926183)
    fruit fly
    (Drosophila melanogaster)    		 Insecta Lasp6
    		 Lasp
    		 16(a)
    		 1 → many
    		 3L(16669506-16704777)
    worm
    (Caenorhabditis elegans)    		 Secernentea F42H10.36
    		 LIM and SH3 domain protein F42H10.3
    		 23(a)
    		 1 → many
    		 III(8484081-8488284)


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

    Paralogs
    for NEB gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    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



    Genomic Variants
    for NEB 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

    10/3730 NCBI SNPs in NEB are shown (see all 3730)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 2 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs2019410101,2
    		Cother152581424(+) TTTTTC/TATCTA 8 K E mis11Minor allele frequency- T:0.00EU 593
    rs58353751,2
    		C,F--144406741(+) CTTCAT/-TTTTT 1 -- int1 trp34Minor allele frequency- -:0.50NA CSA 8
    rs784814381,2
    		--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--------
    rs595099521,2
    		C,--152342009(+) AATCC-/CTGTTTT 4 -- ut310--------
    rs1164436561,2
    		C,--152342053(+) TGGAGA/GAAGAC 4 -- ut311Minor allele frequency- G:0.00WA 118
    rs10613171,2
    		H,--152342062(-) GTGCCT/CAGAGT 4 -- ut31 ese36Minor allele frequency- C:0.00MN NS EA NA 604
    rs1901322491,2
    		--152342073(+) AGAAAA/TAATAT 4 -- ut310--------

    HapMap Linkage Disequilibrium report for NEB (152341850 - 152591001 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 5 variations for NEB
         5 CNVs: 90079 32381 68190 0532 8961
    Human Gene Mutation Database (HGMD): NEB

    Locus Specific Mutation Databases (LSDB): NEB

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

    Disorders / Diseases
    for NEB 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
    NEB for disorders           About GeneDecksing

    OMIM gene information: 161650   
    OMIM disorders: 256030  
    UniProtKB/Swiss-Prot: NEBU_HUMAN, P20929
  • Defects in NEB are the cause of nemaline myopathy type 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-or rod-like structures in muscle fibers on histologic examination

    13 diseases for NEB:    About MalaCards
    nemaline myopathy    nemaline myopathy 2, autosomal recessive    myopathy    nemaline myopathy 2
    muscular dystrophy    dystrophinopathies    myositis    graves' disease
    polymyositis    protein s deficiency    hypotonia    leukemia
    alcoholism

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

    9 Novoseek 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
    Nemaline Myopathy

    Human Genome Epidemiology (HuGE) Navigator: NEB (4 documents)

    Export disorders for NEB gene to outside databases

    Publications
    for NEB 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 NEB gene, integrated from 9 sources (see all 179):
    (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. (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. (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. (1991)
    4. SH3 in muscles: solution structure of the SH3 domain from nebulin. (PubMed id 9514727)1, 2, 9 Politou A.S.... Pastore A. (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. (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. (2002)
    7. 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. (2008)
    8. 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. (1988)
    9. Nebulin regulates actin filament lengths by a stabili zation mechanism. (PubMed id 20498015)1, 9 Pappas C.T....Gregorio C.C. (2010)
    10. Assembly of nebulin into the sarcomeres of avian skeletal muscle. (PubMed id 8816284)1, 9 Moncman C.L. and Wang K. (1996)

    External Searches for NEB 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 NEB gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 4703 HGNC: 7720 AceView: NEB Ensembl:ENSG00000183091 euGenes: HUgn4703
    ECgene: NEB H-InvDB: NEB

    Other Databases showing NEB gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing NEB 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 NEB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for NEB Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NEB

    Intellectual Property
    for NEB gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		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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