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    MYOM2 myomesin 2 [ Homo sapiens (human) ]

    Gene ID: 9172, updated on 2-Oct-2018

    Summary

    Official Symbol
    MYOM2provided by HGNC
    Official Full Name
    myomesin 2provided by HGNC
    Primary source
    HGNC:HGNC:7614
    See related
    Ensembl:ENSG00000036448 MIM:603509; Vega:OTTHUMG00000129175
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    TTNAP
    Summary
    The giant protein titin, together with its associated proteins, interconnects the major structure of sarcomeres, the M bands and Z discs. The C-terminal end of the titin string extends into the M line, where it binds tightly to M-band constituents of apparent molecular masses of 190 kD and 165 kD. The predicted MYOM2 protein contains 1,465 amino acids. Like MYOM1, MYOM2 has a unique N-terminal domain followed by 12 repeat domains with strong homology to either fibronectin type III or immunoglobulin C2 domains. Protein sequence comparisons suggested that the MYOM2 protein and bovine M protein are identical. [provided by RefSeq, Jul 2008]
    Expression
    Biased expression in heart (RPKM 193.6) and prostate (RPKM 8.7) See more
    Orthologs

    Genomic context

    See MYOM2 in Genome Data Viewer
    Location:
    8p23.3
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (2045043..2145456)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (1993082..2093380)

    Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene Rho guanine nucleotide exchange factor 10 Neighboring gene uncharacterized LOC100131395 Neighboring gene uncharacterized LOC101928058 Neighboring gene KBTBD11 overlapping transcript 1 Neighboring gene kelch repeat and BTB domain containing 11 Neighboring gene microRNA 7160 Neighboring gene uncharacterized LOC105377781 Neighboring gene uncharacterized LOC105377782

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    Bibliography

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Phenotypes

    NHGRI GWAS Catalog

    Description
    A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder.
    NHGRI GWA Catalog
    A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus.
    NHGRI GWA Catalog
    Genome-wide association study of selenium concentrations.
    NHGRI GWA Catalog

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    actin filament binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    kinase binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    muscle alpha-actinin binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    structural constituent of muscle IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Process Evidence Code Pubs
    cardiac muscle fiber development IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cardiac muscle tissue morphogenesis IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    cardiac myofibril assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    extraocular skeletal muscle development IEA
    Inferred from Electronic Annotation
    more info
     
    muscle contraction IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    skeletal muscle myosin thick filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    skeletal muscle thin filament assembly IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Component Evidence Code Pubs
    M band IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    Z disc IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    mitochondrion HDA PubMed 
    myosin filament IEA
    Inferred from Electronic Annotation
    more info
     
    sarcomere IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 
    striated muscle thin filament IBA
    Inferred from Biological aspect of Ancestor
    more info
    PubMed 

    General protein information

    Preferred Names
    myomesin-2
    Names
    165 kDa connectin-associated protein
    165 kDa titin-associated protein
    M-band protein
    M-protein
    myomesin (M-protein) 2, 165kDa
    myomesin family member 2
    titin-associated protein, 165 kD

    NCBI Reference Sequences (RefSeq)

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003970.3NP_003961.3  myomesin-2

      Status: VALIDATED

      Source sequence(s)
      AC245164, AL596730, BC052969, BP260135, BX501741, DA233884, X69089
      Consensus CDS
      CCDS5957.1
      UniProtKB/Swiss-Prot
      P54296
      Related
      ENSP00000262113.4, OTTHUMP00000159458, ENST00000262113.8, OTTHUMT00000251249
      Conserved Domains (7) summary
      cd00096
      Location:171242
      Ig; Immunoglobulin domain
      cd05891
      Location:13441435
      Ig_M-protein_C; C-terminal immunoglobulin (Ig)-like domain of M-protein (also known as myomesin-2)
      smart00408
      Location:291354
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:290372
      IG_like; Immunoglobulin like
      cd00063
      Location:383475
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:13471435
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:942995
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p12 Primary Assembly

    Genomic

    1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

      Range
      2045043..2145456
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006716237.1XP_006716300.1  myomesin-2 isoform X1

      Conserved Domains (7) summary
      cd00096
      Location:171242
      Ig; Immunoglobulin domain
      cd05891
      Location:13241415
      Ig_M-protein_C; C-terminal immunoglobulin (Ig)-like domain of M-protein (also known as myomesin-2)
      smart00408
      Location:291354
      IGc2; Immunoglobulin C-2 Type
      smart00410
      Location:290372
      IG_like; Immunoglobulin like
      cd00063
      Location:383475
      FN3; Fibronectin type 3 domain; One of three types of internal repeats found in the plasma protein fibronectin. Its tenth fibronectin type III repeat contains an RGD cell recognition sequence in a flexible loop between 2 strands. Approximately 2% of all ...
      pfam07679
      Location:13271415
      I-set; Immunoglobulin I-set domain
      cl11960
      Location:942995
      Ig; Immunoglobulin domain

    Reference GRCh38.p12 ALT_REF_LOCI_1

    Genomic

    1. NT_187576.1 Reference GRCh38.p12 ALT_REF_LOCI_1

      Range
      228368..328590
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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