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Q9NPC6

- MYOZ2_HUMAN

UniProt

Q9NPC6 - MYOZ2_HUMAN

Protein

Myozenin-2

Gene

MYOZ2

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 106 (01 Oct 2014)
      Sequence version 1 (01 Oct 2000)
      Previous versions | rss
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    Functioni

    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.

    GO - Molecular functioni

    1. protein binding Source: UniProtKB
    2. protein phosphatase 2B binding Source: UniProtKB
    3. telethonin binding Source: BHF-UCL

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Myozenin-2
    Alternative name(s):
    Calsarcin-1
    FATZ-related protein 2
    Gene namesi
    Name:MYOZ2Imported
    Synonyms:C4orf5Imported
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 4

    Organism-specific databases

    HGNCiHGNC:1330. MYOZ2.

    Subcellular locationi

    CytoplasmmyofibrilsarcomereZ line By similarity
    Note: Colocalizes with ACTN1 and PPP3CA at the Z-line of heart and skeletal muscle.By similarity

    GO - Cellular componenti

    1. actin cytoskeleton Source: Ensembl
    2. sarcomere Source: UniProtKB
    3. Z disc Source: BHF-UCL

    Keywords - Cellular componenti

    Cytoplasm

    Pathology & Biotechi

    Involvement in diseasei

    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.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481S → P in CMH16. 1 Publication
    VAR_065469
    Natural varianti246 – 2461I → M in CMH16. 1 Publication
    Corresponds to variant rs140126678 [ dbSNP | Ensembl ].
    VAR_065470

    Keywords - Diseasei

    Cardiomyopathy, Disease mutation

    Organism-specific databases

    MIMi613838. phenotype.
    Orphaneti155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBiPA31421.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 264264Myozenin-2PRO_0000111099Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei111 – 1111PhosphothreonineBy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ9NPC6.
    PaxDbiQ9NPC6.
    PRIDEiQ9NPC6.

    2D gel databases

    UCD-2DPAGEQ9NPC6.

    PTM databases

    PhosphoSiteiQ9NPC6.

    Expressioni

    Tissue specificityi

    Expressed specifically in heart and skeletal muscle.By similarity2 Publications

    Gene expression databases

    BgeeiQ9NPC6.
    CleanExiHS_MYOZ2.
    GenevestigatoriQ9NPC6.

    Organism-specific databases

    HPAiHPA035763.
    HPA035764.

    Interactioni

    Subunit structurei

    Interacts via its C-terminus with spectrin repeats 3 and 4 of ACTN2. Interacts with ACTN1, LDB3, MYOT and PPP3CA.3 Publications

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    TCAPO152732EBI-746712,EBI-954089

    Protein-protein interaction databases

    BioGridi119726. 6 interactions.
    IntActiQ9NPC6. 9 interactions.
    MINTiMINT-1453639.
    STRINGi9606.ENSP00000306997.

    Structurei

    3D structure databases

    ProteinModelPortaliQ9NPC6.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi211 – 2144Poly-LeuSequence Analysis

    Sequence similaritiesi

    Belongs to the myozenin family.Curated

    Phylogenomic databases

    eggNOGiNOG42003.
    HOGENOMiHOG000030910.
    HOVERGENiHBG071289.
    InParanoidiQ9NPC6.
    OMAiDPRFMAF.
    OrthoDBiEOG7NGQCH.
    PhylomeDBiQ9NPC6.
    TreeFamiTF331748.

    Family and domain databases

    InterProiIPR008438. MYOZ.
    [Graphical view]
    PANTHERiPTHR15941. PTHR15941. 1 hit.
    PfamiPF05556. Calsarcin. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q9NPC6-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLSHNTMMKQ RKQQATAIMK EVHGNDVDGM DLGKKVSIPR DIMLEELSHL    50
    SNRGARLFKM RQRRSDKYTF ENFQYQSRAQ INHSIAMQNG KVDGSNLEGG 100
    SQQAPLTPPN TPDPRSPPNP DNIAPGYSGP LKEIPPEKFN TTAVPKYYQS 150
    PWEQAISNDP ELLEALYPKL FKPEGKAELP DYRSFNRVAT PFGGFEKASR 200
    MVKFKVPDFE LLLLTDPRFM SFVNPLSGRR SFNRTPKGWI SENIPIVITT 250
    EPTDDTTVPE SEDL 264
    Length:264
    Mass (Da):29,898
    Last modified:October 1, 2000 - v1
    Checksum:i8636AEF79A6F8916
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti129 – 1291G → R in AAC19160. 1 PublicationCurated
    Sequence conflicti186 – 1861N → T in AAG13932. (PubMed:11161785)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti48 – 481S → P in CMH16. 1 Publication
    VAR_065469
    Natural varianti246 – 2461I → M in CMH16. 1 Publication
    Corresponds to variant rs140126678 [ dbSNP | Ensembl ].
    VAR_065470

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF249873 mRNA. Translation: AAF63623.1.
    AF267997, AF267992, AF267994 Genomic DNA. Translation: AAG13932.1.
    AY013295 mRNA. Translation: AAG38938.1.
    AJ252149 mRNA. Translation: CAB92965.1.
    BT007214 mRNA. Translation: AAP35878.1.
    BC005195 mRNA. Translation: AAH05195.1.
    BC017402 mRNA. Translation: AAH17402.1.
    BC020932 mRNA. Translation: AAH20932.1.
    AF007160 mRNA. Translation: AAC19160.1.
    CCDSiCCDS3711.1.
    RefSeqiNP_057683.1. NM_016599.4.
    UniGeneiHs.732122.

    Genome annotation databases

    EnsembliENST00000307128; ENSP00000306997; ENSG00000172399.
    GeneIDi51778.
    KEGGihsa:51778.
    UCSCiuc003icp.4. human.

    Polymorphism databases

    DMDMi74761638.

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF249873 mRNA. Translation: AAF63623.1 .
    AF267997 , AF267992 , AF267994 Genomic DNA. Translation: AAG13932.1 .
    AY013295 mRNA. Translation: AAG38938.1 .
    AJ252149 mRNA. Translation: CAB92965.1 .
    BT007214 mRNA. Translation: AAP35878.1 .
    BC005195 mRNA. Translation: AAH05195.1 .
    BC017402 mRNA. Translation: AAH17402.1 .
    BC020932 mRNA. Translation: AAH20932.1 .
    AF007160 mRNA. Translation: AAC19160.1 .
    CCDSi CCDS3711.1.
    RefSeqi NP_057683.1. NM_016599.4.
    UniGenei Hs.732122.

    3D structure databases

    ProteinModelPortali Q9NPC6.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 119726. 6 interactions.
    IntActi Q9NPC6. 9 interactions.
    MINTi MINT-1453639.
    STRINGi 9606.ENSP00000306997.

    PTM databases

    PhosphoSitei Q9NPC6.

    Polymorphism databases

    DMDMi 74761638.

    2D gel databases

    UCD-2DPAGE Q9NPC6.

    Proteomic databases

    MaxQBi Q9NPC6.
    PaxDbi Q9NPC6.
    PRIDEi Q9NPC6.

    Protocols and materials databases

    DNASUi 51778.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000307128 ; ENSP00000306997 ; ENSG00000172399 .
    GeneIDi 51778.
    KEGGi hsa:51778.
    UCSCi uc003icp.4. human.

    Organism-specific databases

    CTDi 51778.
    GeneCardsi GC04P120056.
    GeneReviewsi MYOZ2.
    H-InvDB HIX0004465.
    HGNCi HGNC:1330. MYOZ2.
    HPAi HPA035763.
    HPA035764.
    MIMi 605602. gene.
    613838. phenotype.
    neXtProti NX_Q9NPC6.
    Orphaneti 155. Familial isolated hypertrophic cardiomyopathy.
    PharmGKBi PA31421.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG42003.
    HOGENOMi HOG000030910.
    HOVERGENi HBG071289.
    InParanoidi Q9NPC6.
    OMAi DPRFMAF.
    OrthoDBi EOG7NGQCH.
    PhylomeDBi Q9NPC6.
    TreeFami TF331748.

    Miscellaneous databases

    ChiTaRSi MYOZ2. human.
    GeneWikii MYOZ2.
    GenomeRNAii 51778.
    NextBioi 55908.
    PROi Q9NPC6.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q9NPC6.
    CleanExi HS_MYOZ2.
    Genevestigatori Q9NPC6.

    Family and domain databases

    InterProi IPR008438. MYOZ.
    [Graphical view ]
    PANTHERi PTHR15941. PTHR15941. 1 hit.
    Pfami PF05556. Calsarcin. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Identification and characterization of a novel gene (C4orf5) located on human chromosome 4q with specific expression in cardiac and skeletal muscle."
      Ahmad F., Gonzalez O., Ramagli L., Xu J., Siciliano M.J., Bachinski L.L., Roberts R.
      Genomics 70:347-353(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], TISSUE SPECIFICITY.
      Tissue: Heart1 Publication.
    2. "Calsarcins, a novel family of sarcomeric calcineurin-binding proteins."
      Frey N., Richardson J.A., Olson E.N.
      Proc. Natl. Acad. Sci. U.S.A. 97:14632-14637(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], INTERACTION WITH ACTN1; ACTN2 AND PPP3CA, TISSUE SPECIFICITY.
      Tissue: Heart1 Publication.
    3. "Full length sequencing of some human and murine muscular transcripts (Telethon Italy project B41)."
      Ievolella C., Scannapieco P., Lanfranchi G.
      Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: Skeletal muscle.
    4. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
      Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
      Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: LiverImported and Skeletal muscleImported.
    6. Yu W., Sarginson J., Gibbs R.A.
      Submitted (JUN-1997) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 129-264.
      Tissue: BrainImported.
    7. "Calsarcin-3, a novel skeletal muscle-specific member of the calsarcin family, interacts with multiple Z-disc proteins."
      Frey N., Olson E.N.
      J. Biol. Chem. 277:13998-14004(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH LDB3.
    8. "The Z-disc proteins myotilin and FATZ-1 interact with each other and are connected to the sarcolemma via muscle-specific filamins."
      Gontier Y., Taivainen A., Fontao L., Sonnenberg A., van der Flier A., Carpen O., Faulkner G., Borradori L.
      J. Cell Sci. 118:3739-3749(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: INTERACTION WITH MYOT.
    9. Cited for: VARIANTS CMH16 PRO-48 AND MET-246.

    Entry informationi

    Entry nameiMYOZ2_HUMAN
    AccessioniPrimary (citable) accession number: Q9NPC6
    Secondary accession number(s): O43415, Q9HB92
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 22, 2005
    Last sequence update: October 1, 2000
    Last modified: October 1, 2014
    This is version 106 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 4
      Human chromosome 4: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3