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

MYOZ2 Gene

protein-coding   GIFtS: 55
GCID: GC04P120056

Myozenin 2

(Previous name: chromosome 4 open reading frame 5)
(Previous symbol: C4orf5)
  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)
About This Section

Aliases
Myozenin 21 2     CS-12
C4orf51 2 3     Calcineurin-Binding Protein Calsarcin-12
FATZ-Related Protein 22 3     Muscle-Specific Protein2
Chromosome 4 Open Reading Frame 51     myozenin-22
CMH162     Calsarcin-13

External Ids:    HGNC: 13301   Entrez Gene: 517782   Ensembl: ENSG000001723997   OMIM: 6056025   UniProtKB: Q9NPC63   

Export aliases for MYOZ2 gene to outside databases

Previous GC identifers: GC04P120814 GC04P120336 GC04P120450 GC04P120515 GC04P120414 GC04P120276 GC04P115778


(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 MYOZ2 Gene:
The protein encoded by this gene belongs to a family of sarcomeric proteins that bind to calcineurin, a
phosphatase involved in calcium-dependent signal transduction in diverse cell types. These family members tether
calcineurin to alpha-actinin at the z-line of the sarcomere of cardiac and skeletal muscle cells, and thus they
are important for calcineurin signaling. Mutations in this gene cause cardiomyopathy familial hypertrophic type
16, a hereditary heart disorder. (provided by RefSeq, Aug 2011)

GeneCards Summary for MYOZ2 Gene: 
MYOZ2 (myozenin 2) is a protein-coding gene. Diseases associated with MYOZ2 include werdnig-hoffman disease, and myoz2-related familial hypertrophic cardiomyopathy. GO annotations related to this gene include actin binding and telethonin binding. An important paralog of this gene is MYOZ1.

UniProtKB/Swiss-Prot: MYOZ2_HUMAN, Q9NPC6
Function: Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as
alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere.
Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis

Gene Wiki entry for MYOZ2 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000004.11  NC_018915.2  NT_016354.19  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYOZ2 gene promoter:
         GCNF   SREBP-1c   MyoD   C/EBPalpha   SREBP-1b   SREBP-1a   GCNF-1   HSF2   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYOZ2 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYOZ2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYOZ2


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

Entrez Gene cytogenetic band: 4q26-q27   Ensembl cytogenetic band:  4q26   HGNC cytogenetic band: 4q26-q27

MYOZ2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYOZ2 gene location

GeneLoc information about chromosome 4         GeneLoc Exon Structure

GeneLoc location for GC04P120056:  view genomic region     (about GC identifiers)

Start:
120,056,939 bp from pter      End:
120,108,944 bp from pter
Size:
52,006 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: MYOZ2_HUMAN, Q9NPC6 (See protein sequence)
Recommended Name: Myozenin-2  
Size: 264 amino acids; 29898 Da
Subunit: Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2. Interacts with ACTN1, LDB3, MYOT and
PPP3CA
Subcellular location: Cytoplasm, myofibril, sarcomere, Z line (By similarity). Note=Colocalizes with ACTN1 and
PPP3CA at the Z-line of heart and skeletal muscle (By similarity)
Secondary accessions: O43415 Q9HB92

Explore the universe of human proteins at neXtProt for MYOZ2: NX_Q9NPC6

Explore proteomics data for MYOZ2 at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9NPC6

  • MYOZ2 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    MYOZ2 Protein Expression
    REFSEQ proteins: NP_057683.1  
    ENSEMBL proteins: 
     ENSP00000306997  

    Human Recombinant Protein Products for MYOZ2: 
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    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for MYOZ2 

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015629actin cytoskeleton IEA--
    GO:0030017sarcomere TAS11114196
    GO:0030018Z disc NAS15582318

    MYOZ2 for ontologies           About GeneDecksing



    MYOZ2 Antibody Products: 
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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    1 InterPro protein domain:
     IPR008438 Calsarcin-bd

    Graphical View of Domain Structure for InterPro Entry Q9NPC6

    ProtoNet protein and cluster: Q9NPC6

    UniProtKB/Swiss-Prot: MYOZ2_HUMAN, Q9NPC6
    Similarity: Belongs to the myozenin family


    MYOZ2 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,
    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, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: MYOZ2_HUMAN, Q9NPC6
    Function: Myozenins may serve as intracellular binding proteins involved in linking Z line proteins such as
    alpha-actinin, gamma-filamin, TCAP/telethonin, LDB3/ZASP and localizing calcineurin signaling to the sarcomere.
    Plays an important role in the modulation of calcineurin signaling. May play a role in myofibrillogenesis

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding IEA--
    GO:0005515protein binding IPI10427098
    GO:0030346protein phosphatase 2B binding NAS11114196
    GO:0031433telethonin binding IPI15582318
         
    MYOZ2 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYOZ2:
     Increased cell death HMECs cel 

         4 MGI mutant phenotypes (inferred from 1 allele(MGI details for Myoz2):
     cardiovascular system  homeostasis/metabolism  mortality/aging  muscle 

    MYOZ2 for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for MYOZ2 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for MYOZ2

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for MYOZ2 
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    miRNA
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate MYOZ2:
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    SwitchGear 3'UTR luciferase reporter plasmidMYOZ2 3' UTR sequence
    Inhib. RNA
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOZ2


    (Pathways according to EMD Millipore, 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 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 Oct 2013 via Entrez Gene).
    About This Section




    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for MYOZ2

    STRING Interaction Network Preview (showing 5 interactants - click image to see 11)

    5/18 Interacting proteins for MYOZ2 (Q9NPC61, 2, 3 ENSP000003069974) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ACTN4O437071, 2, 3, ENSP000002526994EBI-746712,EBI-351526 MINT-67265 I2D: score=5 STRING: ENSP00000252699
    LDB3O751123, ENSP000003552964I2D: score=3 STRING: ENSP00000355296
    PPP3CAQ082093, ENSP000003783234I2D: score=3 STRING: ENSP00000378323
    ACTN2P356093, ENSP000003555374I2D: score=1 STRING: ENSP00000355537
    TCAPO152733, ENSP000003126244I2D: score=1 STRING: ENSP00000312624
    About this table

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008150biological_process ND--

    MYOZ2 for ontologies           About GeneDecksing



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

    MYOZ2 for compounds           About GeneDecksing

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

    Browse Tocris compounds for MYOZ2

    4 Novoseek inferred chemical compound relationships for MYOZ2 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    creatinine 37.4 6 2039488 (1), 1690725 (1), 1985013 (1), 16378590 (1) (see all 6)
    calcium 14.8 2 7805577 (1), 11842093 (1)
    acetylcholine 13.5 2 8241960 (1), 8844403 (1)
    tyrosine 0 1 16785025 (1)

    Search CenterWatch for drugs/clinical trials and news about MYOZ2

    (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,
    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, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYOZ2 gene: 
    NM_016599.4  

    Unigene Cluster for MYOZ2:

    Myozenin 2
    Hs.732122  [show with all ESTs]
    Unigene Representative Sequence: NM_016599
    1 Ensembl transcript including schematic representation, and UCSC links where relevant:
    ENST00000307128(uc003icp.4)
    miRNA
    Products:
         
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    8 QIAGEN miScript miRNA Assays for microRNAs that regulate MYOZ2:
    hsa-miR-3671 hsa-miR-203 hsa-miR-607 hsa-miR-3200-5p hsa-miR-3120-3p hsa-miR-570 hsa-miR-942 hsa-miR-3119
    SwitchGear 3'UTR luciferase reporter plasmidMYOZ2 3' UTR sequence
    Inhib. RNA
    Products:
         
    Browse for Gene Knock-down Tools from EMD Millipore
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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for MYOZ2
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYOZ2
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat MYOZ2
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    Additional mRNA sequence: 

    AF007160.1 AF249873.1 AJ252149.1 AK313856.1 AY013295.1 BC005195.1 BC017402.1 BC020932.1 
    BT007214.1 

    8 DOTS entries:

    DT.445481  DT.100643408  DT.100804206  DT.95312089  DT.121273827  DT.91665542  DT.91750756  DT.95339101 

    24/160 AceView cDNA sequences (see all 160):

    W68833 CB856425 BC017402 BC005195 BX110822 AA234076 AA447845 AI187095 
    AI191397 AJ709903 AL600539 F26388 AJ252149 BM677454 BC020932 CB995353 
    Z25905 BF790335 D58154 AL600802 C05374 BF939176 BG191658 BF576030 

    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™, 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

    MYOZ2 expression in normal human tissues (normalized intensities)      MYOZ2 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    MYOZ2 Expression
    About this image


    MYOZ2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/3 selected tissues (see all 3) fully expand
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 4 entries
             Mononuclear Myocytes Hyoid Arch Muscles
             vastus lateralis   
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Cardiomyocyte-like progenitor cells ( Derivation of cardiomyocytes from pluripotent...
     
     Endothelium (Cardiovascular System)
             Endothelial-like cells ( Derivation and purification of endothelial precursor cells...

    See MYOZ2 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYOZ2

    SOURCE GeneReport for Unigene cluster: Hs.732122

    UniProtKB/Swiss-Prot: MYOZ2_HUMAN, Q9NPC6
    Tissue specificity: Expressed specifically in heart and skeletal muscle

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOZ2

    (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 chordates.

    Orthologs for MYOZ2 gene from 5/11 species (see all 11)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myoz21 , 5 myozenin 21, 5 87.12(n)1
    88.26(a)1
      3 (53.78 cM)5
    590061  NM_021503.21  NP_067478.11 
     1230062065 
    chicken
    (Gallus gallus)
    Aves MYOZ21 myozenin 2 74.78(n)
    71.86(a)
      422682  XM_420634.3  XP_420634.2 
    lizard
    (Anolis carolinensis)
    Reptilia MYOZ26
    Uncharacterized protein
    72(a)
    1 ↔ 1
    5(140095278-140128645)
    African clawed frog
    (Xenopus laevis)
    Amphibia myoz2-prov2 myozenin 2 77.66(n)    BC042308.1 
    zebrafish
    (Danio rerio)
    Actinopterygii zgc777032 hypothetical protein MGC77703 77.41(n)   393828  BC062840.1 


    ENSEMBL Gene Tree for MYOZ2 (if available)
    TreeFam Gene Tree for MYOZ2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYOZ2 gene
    MYOZ12  MYOZ32  

    MYOZ2 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) 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

    10/1095 SNPs in MYOZ2 are shown (see all 1095)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 4 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0654694
    Cardiomyopathy, familial hypertrophic 16 (CMH16)4--see VAR_0654692 S P mis40--------
    rs1401266781,2,4
    C,FCardiomyopathy, familial hypertrophic 16 (CMH16)4 pathogenic1119900701(+) CCTATA/GGTGAT 2 I M mis11Minor allele frequency- G:0.00NA 4550
    rs115590581,2
    C,Funtested1119850458(+) CATCCA/GTAGTC 1 -- ut51 ese31Minor allele frequency- G:0.03NA 120
    rs178515241,2
    C,Funtested1119865588(+) AGAGCA/G/TCAAAT 2 A syn14CSA NA EU 5974
    rs117215661,2
    C,F,A,Huntested1119872560(+) AGTTTG/ACTTTT 1 -- int125Minor allele frequency- A:0.43NS EA NA WA CSA EU 3675
    rs76876131,2
    C,F,Huntested1119878852(+) TGGGAA/GCAAGC 2 E syn123Minor allele frequency- G:0.08NS EA NA WA CSA EU 8207
    rs2015889481,2
    --115795065(+) AACTA-/TAGTAT 1 -- int10--------
    rs44105121,2
    C,F,H--119848402(+) ATAACC/TGATTT 1 -- us2k115Minor allele frequency- T:0.06NS EA NA WA 2056
    rs1458333291,2
    --119848403(+) TAACCA/GATTTC 1 -- us2k10--------
    rs729085991,2
    C,F--119848627(+) TAGGAT/CTCATA 1 -- us2k12Minor allele frequency- C:0.13WA 120

    HapMap Linkage Disequilibrium report for MYOZ2 (120056939 - 120108944 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MYOZ2:    About this table     
    Variant IDTypeSubtypePubMed ID
    esv271047CNV Insertion20981092
    nsv507191CNV Insertion20534489
    nsv4488CNV Insertion18451855
    nsv522386CNV Gain19592680


    Human Gene Mutation Database (HGMD): MYOZ2
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing MYOZ2
    DNA2.0 Custom Variant and Variant Library Synthesis for MYOZ2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 605602    OMIM disorders: --

    UniProtKB/Swiss-Prot: MYOZ2_HUMAN, Q9NPC6
  • Cardiomyopathy, familial hypertrophic 16 (CMH16) [MIM:613838]: 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

  • 20/24 diseases for MYOZ2 (see all 24):    About MalaCards
    werdnig-hoffman disease    myoz2-related familial hypertrophic cardiomyopathy    alveolar rhabdomyosarcoma    resting heart rate
    becker muscular dystrophy    familial dilated cardiomyopathy    pleomorphic adenoma    hypertrophic cardiomyopathy
    familial hypertrophic cardiomyopathy    arrhythmogenic right ventricular dysplasia    facioscapulohumeral muscular dystrophy    rhabdomyosarcoma
    dilated cardiomyopathy    syncope    myasthenia gravis    muscular dystrophy
    myotonic dystrophy    alcohol dependence    myopathy    adenoma

    1 disease from the University of Copenhagen DISEASES database for MYOZ2:
    Hypertrophic cardiomyopathy

    MYOZ2 for disorders           About GeneDecksing

    10 Novoseek inferred disease relationships for MYOZ2 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    muscle necrosis 47.7 1 2388283 (1)
    myopathy 47.2 3 19047374 (1), 18628314 (1), 7981588 (1)
    rhabdomyosarcoma 42.5 1 9581851 (1)
    adenoma pleomorphic 39.4 2 10458827 (1), 1661898 (1)
    muscular dystrophy duchenne 38.7 1 7508114 (1)
    cardiac hypertrophy 27.8 2 12965203 (1), 11842093 (1)
    cardiomyopathy 24.8 1 15543153 (1)
    hypertrophy 16.1 2 16293906 (1), 15543153 (1)
    atrophy 5.41 1 16931880 (1)
    tumors 0 2 18022385 (1), 9581851 (1)

    Genetic Association Database (GAD): MYOZ2
    Human Genome Epidemiology (HuGE) Navigator: MYOZ2 (4 documents)

    Export disorders for MYOZ2 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

    PubMed articles for MYOZ2 gene, integrated from 9 sources (see all 126):
    (articles sorted by number of sources associating them with MYOZ2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy. (PubMed id 17347475)1, 2, 4, 9 Osio A....Marian A.J. (2007)
    2. Sequence analysis of myozenin 2 in 438 European patients with familial hypertrophic cardiomyopathy. (PubMed id 18591919)1, 4, 9 Posch M.G....Ozcelik C. (2008)
    3. The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins. (PubMed id 16076904)1, 2, 9 Gontier Y.... Borradori L. (2005)
    4. Calsarcins, a novel family of sarcomeric calcineurin-binding proteins. (PubMed id 11114196)1, 2, 9 Frey N.... Olson E.N. (2000)
    5. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093)1, 2, 9 Frey N. and Olson E.N. (2002)
    6. A systematic gene-based screen of chr4q22-q32 identif ies association of a novel susceptibility gene, DKK2, with the quantitative tra it of alcohol dependence symptom counts. (PubMed id 20332099)1, 4 Kalsi G....Riley B.P. (2010)
    7. Candidate-gene testing for orphan limb-girdle muscula r dystrophies. (PubMed id 19472918)1, 4 Aurino S....Nigro V. (2008)
    8. 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. (2004)
    9. Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle. (PubMed id 11161785)1, 2 Ahmad F.... Roberts R. (2000)
    10. Large-scale concatenation cDNA sequencing. (PubMed id 9110174)1, 3 Yu W.... Gibbs R.A. (1997)

    (in PubMed, OMIM, and NCBI Bookshelf)
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 51778 HGNC: 1330 AceView: MYOZ2 Ensembl:ENSG00000172399 euGenes: HUgn51778
    ECgene: MYOZ2 H-InvDB: MYOZ2

    (According to HUGE)
    About This Section
      --

    (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 MYOZ2 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYOZ2 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for MYOZ2 gene:
    Search GeneIP for patents involving MYOZ2

    GeneCards and IP:
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