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NEBL Gene

protein-coding   GIFtS: 56
GCID: GC10M021068

Nebulette

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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)
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Aliases
nebulette1 2
Actin-Binding Z-Disk Protein2 3
LNEBL2 3
LASP22
LIM-nebulette2

External Ids:    HGNC: 169321   Entrez Gene: 105292   Ensembl: ENSG000000781147   OMIM: 6054915   UniProtKB: O760413   

Export aliases for NEBL gene to outside databases

Previous GC identifers: GC10M020805 GC10M021220 GC10M021074 GC10M021110


(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 NEBL Gene:
This gene encodes a nebulin like protein that is abundantly expressed in cardiac muscle. The encoded protein binds
actin and interacts with thin filaments and Z-line associated proteins in striated muscle. This protein may be
involved in cardiac myofibril assembly. A shorter isoform of this protein termed LIM nebulette is expressed in
non-muscle cells and may function as a component of focal adhesion complexes. Alternate splicing results in
multiple transcript variants. (provided by RefSeq, Mar 2010)

GeneCards Summary for NEBL Gene:
NEBL (nebulette) is a protein-coding gene. Diseases associated with NEBL include tricuspid valve insufficiency, and ebstein anomaly. GO annotations related to this gene include structural constituent of muscle and actin filament binding. An important paralog of this gene is NRAP.

UniProtKB/Swiss-Prot: NEBL_HUMAN, O76041
Function: Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in
the assembly of focal adhesion




(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_000010.11  NT_008705.17  NC_018921.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEBL gene promoter:
         TBP   SRF   STAT5B   SRF (504 AA)   POU6F1 (c2)   SRY   FOXO4   Cart-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEBL promoter sequence
   Search Chromatin IP Primers for NEBL

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


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

Entrez Gene cytogenetic band: 10p12   Ensembl cytogenetic band:  10p12.31   HGNC cytogenetic band: 10p12

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

GeneLoc information about chromosome 10         GeneLoc Exon Structure

GeneLoc location for GC10M021068:  view genomic region     (about GC identifiers)

Start:
21,068,902 bp from pter      End:
21,463,116 bp from pter
Size:
394,215 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: NEBL_HUMAN, O76041 (See protein sequence)
Recommended Name: Nebulette  
Size: 1014 amino acids; 116453 Da
Subunit: Isoform 2 interacts with ZYX (Zyxin)
1 PDB 3D structure from and Proteopedia for NEBL:
4F14 (3D)    
Secondary accessions: B0YJ45 Q2TBD0 Q70I54 Q9UIC4
Alternative splicing: 2 isoforms:  O76041-1   O76041-2   (Expressed in non-muscle cells. May be transcribed from an upstream promoter active in non-muscle cells)

Explore the universe of human proteins at neXtProt for NEBL: NX_O76041

Explore proteomics data for NEBL at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (3 alternative transcripts): 
    NP_001166955.1  NP_006384.1  NP_998734.1  

    ENSEMBL proteins: 
     ENSP00000366326   ENSP00000393896   ENSP00000366323   ENSP00000396512   ENSP00000366364  

    NEBL Human Recombinant Protein Products:

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    NEBL Assay Products:

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

    Graphical View of Domain Structure for InterPro Entry O76041

    ProtoNet protein and cluster: O76041

    1 Blocks protein domain: IPB001452 SH3 domain signature

    UniProtKB/Swiss-Prot: NEBL_HUMAN, O76041
    Similarity: Contains 23 nebulin repeats
    Similarity: Contains 1 SH3 domain


    NEBL 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: NEBL_HUMAN, O76041
    Function: Binds to actin and plays an important role in the assembly of the Z-disk. Isoform 2 might play a role in
    the assembly of focal adhesion

         Gene Ontology (GO): Selected molecular function terms (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI11309420
    GO:0005523tropomyosin binding IPI17987659
    GO:0008092cytoskeletal protein binding IPI17987659
    GO:0008270zinc ion binding ----
    GO:0008307structural constituent of muscle NAS9733644
         
    NEBL for ontologies           About GeneDecksing


    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for NEBL
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    miRNA
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    miRTarBase miRNAs that target NEBL:
    hsa-mir-125b-5p (MIRT046090)

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    Selected qRT-PCR Assays for microRNAs that regulate NEBL (see all 70):
    hsa-miR-3678-3p hsa-miR-361-5p hsa-miR-15a hsa-miR-128 hsa-miR-3653 hsa-miR-3916 hsa-miR-1243 hsa-miR-3148
    Browse SwitchGear 3'UTR luciferase reporter plasmids
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    Predesigned siRNA for gene silencing in human, mouse, rat NEBL

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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEBL

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEBL


    (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
    NEBL_HUMAN, O76041: Isoform 2: Cytoplasm
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton5
    cytosol3
    nucleus3

    Gene Ontology (GO): 4 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0001725stress fiber IDA10470015
    GO:0030018Z disc IDA10470015
    GO:0031674I band NAS9733644
    GO:0070062extracellular vesicular exosome IDA19056867

    NEBL 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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        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for NEBL
    Interactions:

        GeneGlobe Interaction Network for NEBL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 8)

    Selected Interacting proteins for NEBL (O760412, 3 ENSP000003663264) via UniProtKB, MINT, STRING, and/or I2D (see all 9)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MED28Q9H2042, 3, ENSP000002373804MINT-7041896 I2D: score=1 STRING: ENSP00000237380
    TRIM63Q969Q12, 3, ENSP000003633904MINT-6503420 I2D: score=1 STRING: ENSP00000363390
    SMURF2Q9HAU42, 3, ENSP000002624354MINT-6503750 I2D: score=1 STRING: ENSP00000262435
    MYPNQ86TC93, ENSP000003517904I2D: score=2 STRING: ENSP00000351790
    ZYXQ159423, ENSP000003244224I2D: score=2 STRING: ENSP00000324422
    About this table

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0071691cardiac muscle thin filament assembly IMP11822876

    NEBL 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 NEBL



    (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,
    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 NEBL gene (4 alternative transcripts): 
    NM_001173484.1  NM_006393.2  NM_213569.2  NM_016365.1  

    Unigene Cluster for NEBL:

    Nebulette
    Hs.5025  [show with all ESTs]
    Unigene Representative Sequence: NM_006393
    14 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000377122(uc001iqi.3 uc001iqj.3 uc001iqk.3 uc021pnu.1)
    ENST00000417816 ENST00000493005 ENST00000492325 ENST00000473616 ENST00000481592
    ENST00000460652 ENST00000498424 ENST00000482754 ENST00000377119 ENST00000434381
    ENST00000485750 ENST00000464278 ENST00000377159

    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NEBL using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEBL (see all 70):
    hsa-miR-3678-3p hsa-miR-361-5p hsa-miR-15a hsa-miR-128 hsa-miR-3653 hsa-miR-3916 hsa-miR-1243 hsa-miR-3148
    Browse SwitchGear 3'UTR luciferase reporter plasmids
    Inhib. RNA
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    OriGene ORF clones in mouse, rat for NEBL
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 3): NEBL (NM_001173484)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEBL
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEBL
    Primer
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    OriGene qSTAR qPCR primer pairs in human, mouse for NEBL
    Pre-validated RT2 qPCR Primer Assay in human, mouse / rat NEBL
      QuantiTect SYBR Green Assays in human, mouse, rat NEBL
      QuantiFast Probe-based Assays in human, mouse, rat NEBL

    Additional mRNA sequence: 

    AB209311.1 AJ580772.1 AK096540.1 AK294926.1 AK295186.1 AK316521.1 BC110452.1 BC110453.1 
    BC126132.1 BC126134.1 BC144201.1 Y16241.1 Y17673.1 

    17 DOTS entries:

    DT.100716190  DT.40306380  DT.121293235  DT.121293153  DT.100031782  DT.95151100  DT.97834609  DT.97864036 
    DT.97898337  DT.121293127  DT.121293129  DT.121293222  DT.121293240  DT.40129341  DT.95188120  DT.436616 
    DT.97790455 

    Selected AceView cDNA sequences (see all 209):

    AA953056 AA935919 T34833 AW955205 AA902346 BM971081 AA236882 AI431418 
    AI364095 AA976864 BX953912 CA313219 CD107307 BM973051 AL600679 AL601449 
    BE042984 CD516076 BM713674 AA514316 T20218 CA503280 AI005062 AW192323 

    GeneLoc Exon Structure

    5 Alternative Splicing Database (ASD) splice patterns (SP) for NEBL    About this scheme

    ExUns: 1a · 1b ^ 2a · 2b · 2c ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19a · 19b ^ 20 ^ 21 ^ 22 ^
    SP1:                                                                                                                                                            
    SP2:                                                                                                                                                            
    SP3:                          -     -                 -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -     -   
    SP4:                                                                                                                                                            
    SP5:                          -                                                                                                                                 

    ExUns: 23 ^ 24 ^ 25a · 25b ^ 26 ^ 27 ^ 28 ^ 29 ^ 30a · 30b ^ 31 ^ 32 ^ 33
    SP1:                    -                                                         
    SP2:                                                                              
    SP3:  -     -     -     -     -     -     -           -     -     -               
    SP4:                                                                              
    SP5:                                                                              


    ECgene alternative splicing isoforms for NEBL

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


    NEBL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 15) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiac Fibroblasts Myocardium
     
     Eye (Sensory Organs)    fully expand to see all 2 entries
             Mature Horizontal Cells Inner Nuclear Layer
     
     Endothelium (Cardiovascular System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
     
     Neurons
             Mature Horizontal Cells Inner Nuclear Layer
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Adult Endothelial Cells Blood Brain Barrier
    NEBL Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEBL Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.5025

    UniProtKB/Swiss-Prot: NEBL_HUMAN, O76041
    Tissue specificity: Abundantly expressed in cardiac muscle, but not in skeletal or smooth muscle. Localized to
    Z-lines in cardiac cells and to dense bodies in nonmuscle cells. Isoform 2 is expressed in non-muscle cells such
    as in fibroblasts

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEBL

    (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 NEBL gene from Selected species (see all 14)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nebl5 nebulette   --   2 (12.43 cM) 17343909 
    chicken
    (Gallus gallus)
    Aves LASP-26
    Gallus gallus nebulette (NEBL), mRNA.
    72(a)
    1 ↔ 1
    2(18006660-18251285)
    lizard
    (Anolis carolinensis)
    Reptilia NEBL6
    nebulette
    68(a)
    1 ↔ 1
    6(16858004-16926315)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.121092 Xenopus laevis transcribed sequence with weak similarity more 77.53(n)    BI851040.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nebl6
    nebulette
    28(a)
    many ↔ many
    2(20872585-20878695) ENSDARG00000021200
    worm
    (Caenorhabditis elegans)
    Secernentea F42H10.36
    Protein F42H10.3, isoform a (F42H10.3) mRNA, compl...
    25(a)
    1 → many
    III(8484158-8488365) WBGene00018367


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NEBL gene
    NRAP2  LASP12  NEB2  
    5 SIMAP similar genes for NEBL using alignment to 6 protein entries:     NEBL_HUMAN (see all proteins):
    SH3GL2    ARHGEF7    ITSN1    NEB    LASP1

    NEBL for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for NEBL
    PGOHUM00000240212


    (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 NEBL (see all 8954)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 10 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1921637881,2
    C--20834935(+) GGAGAA/GGAGAG 3 -- int10--------
    rs1470349561,2
    C--20834945(+) GAGGA-/AAAGGAAA
    AGGGGAAGGG
    AAAGG
    3 -- int10--------
    rs1998778301,2
    --20834957(+) AGGGG-/AAGGGA
            
    AAGGG
    3 -- cds10--------
    rs1380772401,2
    C--20837673(+) AGATA-/ATAGTTT 3 -- int10--------
    rs2002261811,2
    C--20876324(-) CATTTC/TTTTTT 2 -- int10--------
    rs2010406671,2
    C--20922088(+) TACTT-/AAAAAAAA 2 -- int10--------
    rs613925651,2
    C,F--20978782(+) TGGATT/CATGGA 3 -- ds50011Minor allele frequency- C:0.02EA 120
    rs1388457341,2
    --20979039(+) TTTGTA/CAGAAA 3 -- ds50010--------
    rs110123361,2
    C,F,A,H--20979059(+) CTAAGG/ATATTC 3 -- ds500111Minor allele frequency- A:0.24NS EA NA WA 776
    rs1421446371,2
    --20979126(+) AAAGTA/CTCAGA 3 -- ds50010--------

    HapMap Linkage Disequilibrium report for NEBL (21068902 - 21318902 bp, first 250kb of NEBL)

    Structural Variations
         Database of Genomic Variants (DGV) 8 variations for NEBL:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2675077CNV Deletion23128226
    nsv507543CNV Insertion20534489
    esv269497CNV Insertion20981092
    esv273608CNV Insertion20981092
    esv2520573CNV Insertion19546169
    nsv825283CNV Loss20364138
    nsv508573CNV Loss20534489
    nsv831806CNV Gain17160897

    Human Gene Mutation Database (HGMD): NEBL
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NEBL
    DNA2.0 Custom Variant and Variant Library Synthesis for NEBL

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

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    OMIM gene information: 605491    OMIM disorders: --

    9 diseases for NEBL:    About MalaCards
    tricuspid valve insufficiency    ebstein anomaly    endocardial fibroelastosis    dilated cardiomyopathy
    parkinson's disease    ovarian cancer    alzheimer's disease    leukemia
    endotheliitis

    2 diseases from the University of Copenhagen DISEASES database for NEBL:
    Endocardial fibroelastosis     Ebstein anomaly

    NEBL for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015
    Genetic Association Database (GAD): NEBL
    Human Genome Epidemiology (HuGE) Navigator: NEBL (4 documents)

    Export disorders for NEBL 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 NEBL gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with NEBL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Characterization of the human nebulette gene: a polymorphism in an actin-binding motif is associated with nonfamilial idiopathic dilated cardiomyopathy. (PubMed id 11140941)1, 2, 4, 9 Arimura T....Kimura A. (Hum. Genet. 2000)
    2. Functional dissection of nebulette demonstrates actin binding of nebulin-like repeats and Z-line targeting of SH3 and linker domains. (PubMed id 10470015)1, 2, 3 Moncman C.L. and Wang K. (Cell Motil. Cytoskeleton 1999)
    3. Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs. (PubMed id 9733644)1, 2, 3 Millevoi S.... Labeit S. (J. Mol. Biol. 1998)
    4. 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)
    5. A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. (PubMed id 16385451)1, 4 Grupe A....Goate A. (Am. J. Hum. Genet. 2006)
    6. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. Zyxin interacts with the SH3 domains of the cytoskeletal proteins LIM-nebulette and Lasp-1. (PubMed id 15004028)1, 2 Li B.... Trueb B. (J. Biol. Chem. 2004)
    9. The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)1, 2 Deloukas P.... Rogers J. (Nature 2004)
    10. Identification and characterization of LASP2 gene in silico. (PubMed id 12883659)1, 9 Katoh M. and Katoh M. (Int. J. Mol. Med. 2003)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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: 10529 HGNC: 16932 AceView: NEBL Ensembl:ENSG00000078114 euGenes: HUgn10529
    ECgene: NEBL H-InvDB: NEBL

    (According to HUGE)
    About This Section

    TryGeneCards Plus
      --

    (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 NEBL Pharmacogenomics, SNPs, Pathways

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

    TryGeneCards Plus
    Patent Information for NEBL gene:
    Search GeneIP for patents involving NEBL

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
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