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NEXN Gene

protein-coding   GIFtS: 50
GCID: GC01P078354

Nexilin (F Actin Binding Protein)

  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
Nexilin (F Actin Binding Protein)1 2     Nelin3
CMH202 5     F-Actin-Binding Protein3
NELIN2 5     CMD1CC5
nexilin2     

External Ids:    HGNC: 295571   Entrez Gene: 916242   Ensembl: ENSG000001626147   OMIM: 6131215   UniProtKB: Q0ZGT23   

Export aliases for NEXN gene to outside databases

Previous GC identifers: GC01P077776 GC01P077804 GC01P078066 GC01P078126 GC01P076485


(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 NEXN Gene:
This gene encodes a filamentous actin-binding protein that may function in cell adhesion and migration. Mutations
in this gene have been associated with dilated cardiomyopathy, also known as CMD1CC. Alternatively spliced
transcript variants have been described.(provided by RefSeq, Feb 2010)

GeneCards Summary for NEXN Gene:
NEXN (nexilin (F actin binding protein)) is a protein-coding gene. Diseases associated with NEXN include cardiomyopathy, familial hypertrophic, 20, and cardiomyopathy, dilated, 1cc. GO annotations related to this gene include structural constituent of muscle and actin filament binding.

UniProtKB/Swiss-Prot: NEXN_HUMAN, Q0ZGT2
Function: Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential
role in the maintenance of Z line and sarcomere integrity




(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_000001.11  NT_032977.10  NC_018912.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the NEXN gene promoter:
         Nkx3-1   NF-1   NF-1/L   AML1a   AP-4   POU2F1   Nkx6-1   POU2F1b   POU2F1a   POU2F1c   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidNEXN promoter sequence
   Search Chromatin IP Primers for NEXN

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


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

Entrez Gene cytogenetic band: 1p31.1   Ensembl cytogenetic band:  1p31.1   HGNC cytogenetic band: 1p31.1

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

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P078354:  view genomic region     (about GC identifiers)

Start:
78,354,198 bp from pter      End:
78,409,580 bp from pter
Size:
55,383 bases      Orientation:
plus 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: NEXN_HUMAN, Q0ZGT2 (See protein sequence)
Recommended Name: Nexilin  
Size: 675 amino acids; 80658 Da
Subunit: Interacts with F-actin
Sequence caution: Sequence=AAH17827.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential
poly-A sequence; Sequence=AAH55084.1; Type=Erroneous initiation; Note=Translation N-terminally extended;
Sequence=AAH55084.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence;
Sequence=AAI11396.1; Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI14445.1;
Type=Erroneous initiation; Note=Translation N-terminally extended; Sequence=AAI14446.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=BAB71622.1; Type=Erroneous initiation;
Note=Translation N-terminally extended;
Secondary accessions: A0PJ84 B4DPZ7 Q0D2H2 Q14CC2 Q14CC3 Q16081 Q7Z2X0 Q96DL0 Q9Y2V1
Alternative splicing: 4 isoforms:  Q0ZGT2-1   Q0ZGT2-2   Q0ZGT2-3   Q0ZGT2-4   (No experimental confirmation available. Contains a phosphoserine at position 16)

Explore the universe of human proteins at neXtProt for NEXN: NX_Q0ZGT2

Explore proteomics data for NEXN at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_001165780.1  NP_653174.3  

    ENSEMBL proteins: 
     ENSP00000383814   ENSP00000333938   ENSP00000411902   ENSP00000343928   ENSP00000388048  
     ENSP00000327363   ENSP00000294624  

    NEXN Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
    Browse R&D Systems for human recombinant proteins
    Browse recombinant and purified proteins available from Enzo Life Sciences
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for NEXN
    OriGene Custom MassSpec
    OriGene Custom Protein Services for NEXN
    GenScript Custom Purified and Recombinant Proteins Services for NEXN
    Novus Biologicals NEXN Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for NEXN

    NEXN Antibody Products:

    Browse EMD Millipore's Extensive Line of Mono- and Polyclonal Antibodies
    Browse R&D Systems for Antibodies
    OriGene Antibodies for NEXN
    OriGene Custom Antibody Services for NEXN
    Novus Biologicals NEXN Antibodies
    Abcam antibodies for NEXN
    Cloud-Clone Corp. Antibodies for NEXN
    Search ThermoFisher Antibodies for NEXN
    LSBio Antibodies in human, mouse, rat for NEXN

    NEXN Assay Products:

    Browse Kits and Assays available from EMD Millipore
    OriGene Custom Assay Services for NEXN
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for NEXN
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for NEXN
    Cloud-Clone Corp. CLIAs for NEXN


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    ISET: Immunoglobulin superfamily / I-set domain containing

    Selected InterPro protein domains (see all 6):
     IPR020678 Nexilin
     IPR013098 Ig_I-set
     IPR013783 Ig-like_fold
     IPR020675 Myosin_light_ch_kinase-rel
     IPR007110 Ig-like_dom

    Graphical View of Domain Structure for InterPro Entry Q0ZGT2

    ProtoNet protein and cluster: Q0ZGT2

    1 Blocks protein domain: IPB013098 Immunoglobulin I-set

    UniProtKB/Swiss-Prot: NEXN_HUMAN, Q0ZGT2
    Similarity: Contains 1 Ig-like (immunoglobulin-like) domain


    NEXN 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: NEXN_HUMAN, Q0ZGT2
    Function: Involved in regulating cell migration through association with the actin cytoskeleton. Has an essential
    role in the maintenance of Z line and sarcomere integrity

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004683calmodulin-dependent protein kinase activity IBA--
    GO:0005515protein binding ----
    GO:0008307structural constituent of muscle IMP19881492
    GO:0051015actin filament binding IDA15823560
         
    NEXN for ontologies           About GeneDecksing


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

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

    miRNA
    Products:
        
    Block miRNA regulation of human, mouse, rat NEXN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEXN (see all 16):
    hsa-miR-3163 hsa-miR-217 hsa-miR-328 hsa-miR-4311 hsa-miR-520d-5p hsa-miR-944 hsa-miR-138-2* hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidNEXN 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for NEXN
    Predesigned siRNA for gene silencing in human, mouse, rat NEXN

    Gene Editing
    Products:
    DNA2.0 Custom Protein Engineering Service for NEXN

    Clone
    Products:
         
    OriGene clones in human, mouse for NEXN (see all 11)
    OriGene ORF clones in mouse, rat for NEXN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NEXN (NM_144573)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEXN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEXN

    Cell Line
    Products:
         
    GenScript Custom overexpressing Cell Line Services for NEXN
    Browse ESI BIO Cell Lines and PureStem Progenitors for NEXN 
    In Situ Assay
    Products:
       

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEXN


    (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
    NEXN_HUMAN, Q0ZGT2: Cytoplasm, cytoskeleton (By similarity). Cell junction, adherens junction (By similarity).
    Cytoplasm, myofibril, sarcomere, Z line (By similarity). Note=Localizes to the cell-matrix AJ. Not found at the
    cell-cell AJ (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol3
    cytoskeleton2
    nucleus2
    plasma membrane2
    golgi apparatus1
    mitochondrion1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005856cytoskeleton IEA--
    GO:0005924cell-substrate adherens junction IEA--
    GO:0030018Z disc ISS--

    NEXN 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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        Pathway & Disease-focused RT2 Profiler PCR Arrays including NEXN: 
              Prostate Cancer in human mouse rat
              Cardiotoxicity in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for NEXN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 9)

    Selected Interacting proteins for NEXN (Q0ZGT22, 3 ENSP000003339384) via UniProtKB, MINT, STRING, and/or I2D (see all 11)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    CALM1P621583, ENSP000003494674I2D: score=1 STRING: ENSP00000349467
    CALM2P621583I2D: score=1 
    CALM3P621583I2D: score=1 
    NELL1Q928322, 3, ENSP000002989254MINT-8187874 I2D: score=1 STRING: ENSP00000298925
    ACTA1P681333, ENSP000003556454I2D: score=1 STRING: ENSP00000355645
    About this table

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006468protein phosphorylation IBA--
    GO:0030334regulation of cell migration IDA15823560
    GO:0042981NOT regulation of apoptotic process IBA--
    GO:0048739cardiac muscle fiber development IBA--
    GO:0051493regulation of cytoskeleton organization IEP15823560

    NEXN 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 NEXN



    (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 NEXN gene (2 alternative transcripts): 
    NM_001172309.1  NM_144573.3  

    Unigene Cluster for NEXN:

    Nexilin (F actin binding protein)
    Hs.612385  [show with all ESTs]
    Unigene Representative Sequence: NM_144573
    10 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000401035 ENST00000334785 ENST00000440324 ENST00000342754 ENST00000464998
    ENST00000480732 ENST00000470735 ENST00000457030(uc001dia.3 uc009wcb.1)
    ENST00000330010(uc001did.1 uc001dif.1 uc001dic.4 uc001dib.4 uc001dig.4)
    ENST00000294624
    miRNA
    Products:
         
    Block miRNA regulation of human, mouse, rat NEXN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate NEXN (see all 16):
    hsa-miR-3163 hsa-miR-217 hsa-miR-328 hsa-miR-4311 hsa-miR-520d-5p hsa-miR-944 hsa-miR-138-2* hsa-miR-29b-1*
    SwitchGear 3'UTR luciferase reporter plasmidNEXN 3' UTR sequence
    Inhib. RNA
    Products:
         
    OriGene RNAi products in human, mouse, rat for NEXN
    Predesigned siRNA for gene silencing in human, mouse, rat NEXN
    Clone
    Products:
         
    OriGene clones in human, mouse for NEXN (see all 11)
    OriGene ORF clones in mouse, rat for NEXN
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): NEXN (NM_144573)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for NEXN
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat NEXN
    Primer
    Products:
        
    OriGene qSTAR qPCR primer pairs in human, mouse for NEXN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEXN
      QuantiTect SYBR Green Assays in human, mouse, rat NEXN
      QuantiFast Probe-based Assays in human, mouse, rat NEXN

    Additional mRNA sequence: 

    AF114264.1 AF176780.1 AK057954.1 AK127535.1 AK293201.1 AK298565.1 AK300728.1 AK307487.1 
    AY211912.1 BC017827.1 BC055084.1 BC111395.1 BC114444.1 BC114445.1 BX648546.1 CR936630.1 
    DQ464902.1 S67069.1 

    15 DOTS entries:

    DT.95252120  DT.92438361  DT.92438372  DT.102844309  DT.121441209  DT.97817636  DT.101960529  DT.75140914 
    DT.92438357  DT.100826907  DT.121441347  DT.95252090  DT.121441282  DT.430738  DT.97805791 

    Selected AceView cDNA sequences (see all 175):

    BU172425 BU681346 BE708090 CA444754 AA404675 AI147652 AV701995 AA629114 
    AI129895 AL119598 F31719 AA233880 BQ009808 T29636 F35592 AI803472 
    AW069343 BC055084 AA403186 AA236374 AK127535 AA194271 AI139845 AI935567 

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


    NEXN expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Cardiomyocyte-like progenitor cells
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Prostate (Endocrine System)
    NEXN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    NEXN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.612385

    UniProtKB/Swiss-Prot: NEXN_HUMAN, Q0ZGT2
    Tissue specificity: Abundantly expressed in heart and skeletal muscle, and at lower levels in placenta, lung,
    liver and pancreas. Also expressed in HeLaS3 and MOLT-4 cell lines

        Pathway & Disease-focused RT2 Profiler PCR Arrays including NEXN: 
              Prostate Cancer in human mouse rat
              Cardiotoxicity in human mouse rat

    Primer
    Products:
    OriGene qSTAR qPCR primer pairs in human, mouse for NEXN
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat NEXN
    QuantiTect SYBR Green Assays in human, mouse, rat NEXN
    QuantiFast Probe-based Assays in human, mouse, rat NEXN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for NEXN

    (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 chordates.

    Orthologs for NEXN gene from Selected species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Nexn1 , 5 nexilin1, 5 87.55(n)1
    88.78(a)1
      3 (77.07 cM)5
    688101  NM_199465.21  NP_955759.21 
     1522369865 
    chicken
    (Gallus gallus)
    Aves NEXN1 nexilin (F actin binding protein) 66.45(n)
    62.32(a)
      424552  XM_003641699.2  XP_003641747.2 
    lizard
    (Anolis carolinensis)
    Reptilia NEXN6
    nexilin (F actin binding protein)
    79(a)
    1 ↔ 1
    GL343194.1(4745632-4800375)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.161312 Xenopus laevis transcribed sequence with weak similarity more 77.06(n)    BQ732420.1 
    zebrafish
    (Danio rerio)
    Actinopterygii nexn6
    nexilin (F actin binding protein)
    52(a)
    1 ↔ 1
    8(19036975-19057282) ENSDARG00000057317


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for NEXN gene
    2 SIMAP similar genes for NEXN using alignment to 6 protein entries:     NEXN_HUMAN (see all proteins):
    DKFZp686A0568    KIAA0992

    NEXN 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 NEXN (see all 904)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1462454801,2,,4
    CCardiomyopathy, familial hypertrophic 20 (CMH20)4 --78410828(+) AGAAGC/TGTGCT 4 R C mis10--------
    VAR_0630114
    Cardiomyopathy, dilated 1CC (CMD1CC)4--see VAR_0630112 Y C mis40--------
    VAR_0630094
    Cardiomyopathy, dilated 1CC (CMD1CC)4--see VAR_0630092 P T mis40--------
    VAR_0654774
    Cardiomyopathy, familial hypertrophic 20 (CMH20)4--see VAR_0654772 Q E mis40--------
    rs1378531971,2
    Cpathogenic178426793(+) AGAGTA/GTATGT 4 Y C mis10--------
    rs57754311,2
    C--76521680(+) AAAAAA/-TAAAC 2 -- int1 trp31Minor allele frequency- -:0.00NA 2
    rs710757791,2
    C--76528724(-) TTTTT-/TTTTTTTT 4 -- int1 cds11Minor allele frequency- TTT:0.00NA 2
    rs1136638561,2
    C--76541626(+) AGAAAAT/-ATATA 2 -- ds50011Minor allele frequency- -:0.50CSA 2
    rs1456772571,2
    C--76541626(+) AGAAA-/ATATATA 2 -- ds50010--------
    rs346236971,2
    C--78357433(+) AAAGT-/AAAAAAAA 4 -- int1 cds11Minor allele frequency- AAA:0.00NA 2

    HapMap Linkage Disequilibrium report for NEXN (78354198 - 78409580 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for NEXN: --
    Human Gene Mutation Database (HGMD): NEXN
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing NEXN
    DNA2.0 Custom Variant and Variant Library Synthesis for NEXN

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 613121   
    OMIM disorders: 613122  613876  
    UniProtKB/Swiss-Prot: NEXN_HUMAN, Q0ZGT2
  • Cardiomyopathy, dilated 1CC (CMD1CC) [MIM:613122]: A disorder characterized by ventricular dilation and
    impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of
    premature death. Note=The disease is caused by mutations affecting the gene represented in this entry
  • Cardiomyopathy, familial hypertrophic 20 (CMH20) [MIM:613876]: A hereditary heart disorder characterized
    by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The
    symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by
    exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high
    risk of cardiac failure and sudden cardiac death. Note=The disease is caused by mutations affecting the gene
    represented in this entry

  • 18 diseases for NEXN:    
    About MalaCards
    cardiomyopathy, familial hypertrophic, 20    cardiomyopathy, dilated, 1cc    nexn-related familial hypertrophic cardiomyopathy    nexn-related dilated cardiomyopathy
    aarskog-scott syndrome    scott syndrome    dilated cardiomyopathy    familial hypertrophic cardiomyopathy
    hypertrophic cardiomyopathy    cardiomyopathy, dilated, 1w    syncope    congestive heart failure
    sarcoma    thyroiditis    prostate cancer    prostatitis
    multiple myeloma    myeloma


    NEXN for disorders           About GeneDecksing

    Genetic Association Database (GAD): NEXN
    Human Genome Epidemiology (HuGE) Navigator: NEXN (4 documents)

    Export disorders for NEXN 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)
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    PubMed articles for NEXN gene, integrated from 10 sources (see all 30):
    (articles sorted by number of sources associating them with NEXN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Molecular cloning of NELIN, a putative human cytoskeleton regulation gene. (PubMed id 12053183)1, 2, 3 Zhao Y.... Ding J.-F. (Sheng Wu Hua Xue Yu Sheng Wu Wu Li Xue Bao 2001)
    2. Muscle autoantigens in thyroid associated ophthalmopathy: the limits of molecular genetics. (PubMed id 8227983)1, 2, 3 Elisei R.... Ludgate M. (J. Endocrinol. Invest. 1993)
    3. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. (PubMed id 19881492)1, 2, 9 Hassel D.... Rottbauer W. (Nat. Med. 2009)
    4. NELIN, a new F-actin associated protein, stimulates HeLa cell migration and adhesion. (PubMed id 15823560)1, 2, 9 Wang W.... Hui R. (Biochem. Biophys. Res. Commun. 2005)
    5. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    6. Mutations in NEXN, a Z-disc gene, are associated with hypertrophic cardiomyopathy. (PubMed id 20970104)1, 2 Wang H.... Fan Y. (Am. J. Hum. Genet. 2010)
    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. The P-body component USP52/PAN2 is a novel regulator of HIF1A mRNA stability. (PubMed id 23398456)1 Bett J.S....Hay R.T. (Biochem. J. 2013)
    9. Systems-wide analysis of ubiquitylation dynamics reveals a key role for PAF15 ubiquitylation in DNA-damage bypass. (PubMed id 23000965)1 Povlsen L.K....Choudhary C. (Nat. Cell Biol. 2012)
    10. Nexilin is a dynamic component of Listeria monocytogenes and enteropathogenic Escherichia coli actin-rich structures. (PubMed id 22381134)1 Law H.T....Guttman J.A. (Cell. Microbiol. 2012)

    (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)
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    Entrez Gene: 91624 HGNC: 29557 AceView: NEXN Ensembl:ENSG00000162614 euGenes: HUgn91624
    ECgene: NEXN H-InvDB: NEXN

    (According to HUGE)
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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)
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    NameDescription
    PharmGKB entry for NEXN Pharmacogenomics, SNPs, Pathways

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

    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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