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MYOZ3 Gene

protein-coding   GIFtS: 49
GCID: GC05P150020

Myozenin 3

  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
Myozenin 31 2     CS-32
FRP32 3 5     CS32
FATZ-Related Protein 32 3     calsarcin-32
Calsarcin 31     myozenin-32
FATZ Related Protein 31     Calsarcin-33

External Ids:    HGNC: 185651   Entrez Gene: 919772   Ensembl: ENSG000001645917   OMIM: 6107355   UniProtKB: Q8TDC03   

Export aliases for MYOZ3 gene to outside databases

Previous GC identifers: GC05P150109 GC05P150638 GC05P150068 GC05P145186


(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 MYOZ3 Gene:
The protein encoded by this gene is specifically expressed in the skeletal muscle, and belongs to the myozenin
family. Members of this family function as calcineurin-interacting proteins that help tether calcineurin to the
sarcomere of cardiac and skeletal muscle. They play an important role in modulation of calcineurin signaling.
(provided by RefSeq, Apr 2012)

GeneCards Summary for MYOZ3 Gene:
MYOZ3 (myozenin 3) is a protein-coding gene. Diseases associated with MYOZ3 include shigellosis, and limb-girdle muscular dystrophy. An important paralog of this gene is MYOZ1.

UniProtKB/Swiss-Prot: MYOZ3_HUMAN, Q8TDC0
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




(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_000005.10  NC_018916.2  NT_029289.12  
Regulatory elements:
   Regulatory transcription factor binding sites in the MYOZ3 gene promoter:
         SRF   E2F-3a   E2F-4   E2F-5   SRF (504 AA)   AP-4   E2F-2   E2F   E2F-1   Zic3   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYOZ3 promoter sequence
   Search Chromatin IP Primers for MYOZ3

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat MYOZ3


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

Entrez Gene cytogenetic band: 5q33.1   Ensembl cytogenetic band:  5q33.1   HGNC cytogenetic band: 5q33.2

MYOZ3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYOZ3 gene location

GeneLoc information about chromosome 5         GeneLoc Exon Structure

GeneLoc location for GC05P150020:  view genomic region     (about GC identifiers)

Start:
150,040,404 bp from pter      End:
150,058,927 bp from pter
Size:
18,524 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: MYOZ3_HUMAN, Q8TDC0 (See protein sequence)
Recommended Name: Myozenin-3  
Size: 251 amino acids; 27157 Da
Subunit: Interacts with ACTN2, LDB3, FLNC, PPP3CA and TCAP
Secondary accessions: B2R9Q4 D3DQG9 Q8IVM1 Q8IVN1
Alternative splicing: 3 isoforms:  Q8TDC0-1   Q8TDC0-2   Q8TDC0-3   

Explore the universe of human proteins at neXtProt for MYOZ3: NX_Q8TDC0

Explore proteomics data for MYOZ3 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See MYOZ3 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001116325.1  NP_588612.2  

    ENSEMBL proteins: 
     ENSP00000428815   ENSP00000297130   ENSP00000430913   ENSP00000429439  

    MYOZ3 Human Recombinant Protein Products:

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    Cloud-Clone Corp. ELISAs for MYOZ3
    Cloud-Clone Corp. CLIAs for MYOZ3


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    1 InterPro protein domain:
     IPR008438 MYOZ

    Graphical View of Domain Structure for InterPro Entry Q8TDC0

    ProtoNet protein and cluster: Q8TDC0

    UniProtKB/Swiss-Prot: MYOZ3_HUMAN, Q8TDC0
    Similarity: Belongs to the myozenin family


    MYOZ3 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: MYOZ3_HUMAN, Q8TDC0
    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): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI10427098
         
    MYOZ3 for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for MYOZ3:
     Decreased Wnt reporter activit 

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for MYOZ3
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    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate MYOZ3:
    hsa-miR-3607-3p hsa-miR-4286 hsa-miR-4326 hsa-miR-3155 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidMYOZ3 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat MYOZ3

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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 MYOZ3

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOZ3


    (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
    MYOZ3_HUMAN, Q8TDC0: Cytoplasm, myofibril, sarcomere, Z line (By similarity). Note=Localized at the Z-line of
    skeletal muscle (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol1
    nucleus1

    Gene Ontology (GO): 1 cellular component term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0030018Z disc IEA--

    MYOZ3 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 MYOZ3
    Interactions:

        Search GeneGlobe Interaction Network for MYOZ3

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for MYOZ3 (Q8TDC02, 3 ENSP000002971304) via UniProtKB, MINT, STRING, and/or I2D (see all 10)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MAPK6Q166592, 3MINT-8261516 I2D: score=2 
    LDB3O751123, ENSP000003552964I2D: score=4 STRING: ENSP00000355296
    PPP3CAQ082093, ENSP000003783234I2D: score=2 STRING: ENSP00000378323
    ACTN2P356093, ENSP000003555374I2D: score=1 STRING: ENSP00000355537
    PPP3CBP162983, ENSP000003783064I2D: score=1 STRING: ENSP00000378306
    About this table

    (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 MYOZ3



    (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 MYOZ3 gene (2 alternative transcripts): 
    NM_001122853.2  NM_133371.4  

    Unigene Cluster for MYOZ3:

    Myozenin 3
    Hs.91626  [show with all ESTs]
    Unigene Representative Sequence: NM_001122853
    8 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000517768 ENST00000297130(uc003lss.2 uc003lsr.2) ENST00000517861
    ENST00000524256 ENST00000521300 ENST00000523553 ENST00000520112 ENST00000456566

    miRNA
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    6 qRT-PCR Assays for microRNAs that regulate MYOZ3:
    hsa-miR-3607-3p hsa-miR-4286 hsa-miR-4326 hsa-miR-3155 hsa-miR-3155b hsa-miR-484
    SwitchGear 3'UTR luciferase reporter plasmidMYOZ3 3' UTR sequence
    Inhib. RNA
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MYOZ3
    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat MYOZ3
      QuantiFast Probe-based Assays in human, mouse, rat MYOZ3

    Additional mRNA sequence: 

    AF480443.1 AJ277961.1 AJ300586.1 AJ300587.1 AK056449.1 AK313873.1 BC069380.1 BC069553.1 
    BC074870.2 BC074871.2 

    6 DOTS entries:

    DT.410817  DT.75146460  DT.120890273  DT.40198257  DT.100689073  DT.91720127 

    Selected AceView cDNA sequences (see all 273):

    AF499136 AK091066 BM694336 BQ899749 AW732550 AB028952 AA397825 AA302622 
    AF499137 BE274201 AX746763 BQ023492 F25272 BM711376 BF338936 BX508994 
    BI259166 F29853 AI056286 BF871740 AI420295 F26310 Y11072 BM717617 

    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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    MYOZ3 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGCTGAAGAC
    MYOZ3 Expression
    About this image

    MYOZ3 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    MYOZ3 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.91626

    UniProtKB/Swiss-Prot: MYOZ3_HUMAN, Q8TDC0
    Tissue specificity: Expressed specifically in skeletal muscle. Not detected in heart

        Custom PCR Arrays for MYOZ3
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOZ3

    (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 MYOZ3 gene from Selected species (see all 10)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Myoz31 , 5 myozenin 31, 5 80.14(n)1
    75.51(a)1
      18 (34.36 cM)5
    1709471  NM_133363.31  NP_579941.21 
     605737245 
    chicken
    (Gallus gallus)
    Aves MYOZ31 myozenin 3 57.7(n)
    47.53(a)
      416271  XM_414589.3  XP_414589.2 
    lizard
    (Anolis carolinensis)
    Reptilia MYOZ36
    myozenin 3
    32(a)
    1 ↔ 1
    2(138450533-138483435)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia LOC1017323371 myozenin-3-like 49.28(n)
    42.86(a)
      101732337  XM_004920746.1  XP_004920803.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CABZ01006980.16
    myoz3a6
    myozenin 3a
    37(a)
    31(a)
    many → 1
    many → 1
    21(31959390-31980173) ENSDARG00000088913
    14(922280-931687) ENSDARG00000067701


    ENSEMBL Gene Tree for MYOZ3 (if available)
    TreeFam Gene Tree for MYOZ3 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for MYOZ3 gene
    MYOZ12  MYOZ22  

    MYOZ3 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 MYOZ3 (see all 494)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 5 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1908369511,2
    --150039382(+) CCCACC/TGAGGG 2 -- us2k10--------
    rs1393201201,2
    --150039533(+) CCACCA/CTTCCC 2 -- us2k10--------
    rs1174499881,2
    F--150039573(+) ATCTTC/AGGCTG 2 -- us2k11Minor allele frequency- A:0.02EA 120
    rs1158697091,2
    C,F--150039616(+) ACTGGT/GGATCT 2 -- us2k11Minor allele frequency- G:0.05WA 118
    rs1831964041,2
    --150039633(+) AGTCCC/TCCGAC 2 -- us2k10--------
    rs1867133091,2
    --150039752(+) CCTTCC/TACATC 2 -- us2k10--------
    rs1915565781,2
    --150039911(+) TGGCAA/GCAAAG 2 -- us2k10--------
    rs1443707811,2
    C--150039939(+) CAATCC/TGATCA 2 -- us2k10--------
    rs1466107921,2
    --150039940(+) AATCCA/GATCAC 2 -- us2k10--------
    rs1828804261,2
    --150040070(+) GCTCCA/GGCTCT 2 -- us2k10--------

    HapMap Linkage Disequilibrium report for MYOZ3 (150040404 - 150058927 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for MYOZ3:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv29484CNV Loss19812545
    nsv428129CNV Loss18775914
    esv33898CNV Loss17666407
    dgv1862e1CNV Complex17122850

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing MYOZ3
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    (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.)
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    OMIM gene information: 610735    OMIM disorders: --

    5 diseases for MYOZ3:    
    About MalaCards
    shigellosis    limb-girdle muscular dystrophy    diarrhea    myopathy
    muscular dystrophy


    MYOZ3 for disorders           About GeneDecksing

    Genetic Association Database (GAD): MYOZ3
    Human Genome Epidemiology (HuGE) Navigator: MYOZ3 (1 document)

    Export disorders for MYOZ3 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 MYOZ3 gene, integrated from 10 sources (see all 12):
    (articles sorted by number of sources associating them with MYOZ3)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins. (PubMed id 11842093)1, 2, 3, 9 Frey N. and Olson E.N. (J. Biol. Chem. 2002)
    2. Candidate-gene testing for orphan limb-girdle muscular dystrophies. (PubMed id 19472918)1, 4 Aurino S....Nigro V. (Acta Myol 2008)
    3. 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)
    4. A directed protein interaction network for investigating intracellular signal transduction. (PubMed id 21900206)1 Vinayagam A....Wanker E.E. (Sci Signal 2011)
    5. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)1 Kimura K.... Sugano S. (Genome Res. 2006)
    6. Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. (PubMed id 15342556)1 Suzuki Y.... Sugano S. (Genome Res. 2004)
    7. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)2 Ota T.... Sugano S. (Nat. Genet. 2004)
    8. The DNA sequence and comparative analysis of human chromosome 5. (PubMed id 15372022)2 Schmutz J.... Rubin E.M. (Nature 2004)
    9. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (Proc. Natl. Acad. Sci. U.S.A. 2002)
    10. ZASP: a new Z-band alternatively spliced PDZ-motif protein. (PubMed id 10427098)1 Faulkner G.... Lanfranchi G. (J. Cell Biol. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 91977 HGNC: 18565 AceView: SYNPOandMYOZ3 Ensembl:ENSG00000164591 euGenes: HUgn91977
    ECgene: MYOZ3 H-InvDB: MYOZ3

    (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 MYOZ3 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 MYOZ3 gene:
    Search GeneIP for patents involving MYOZ3

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



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