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    MYOM3 myomesin 3 [ Homo sapiens (human) ]

    Gene ID: 127294, updated on 10-Dec-2024

    Summary

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    Official Symbol
    MYOM3provided by HGNC
    Official Full Name
    myomesin 3provided by HGNC
    Primary source
    HGNC:HGNC:26679
    See related
    Ensembl:ENSG00000142661 MIM:616832; AllianceGenome:HGNC:26679
    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
    Summary
    Predicted to enable protein homodimerization activity. Predicted to be involved in sarcomere organization. Predicted to be located in M band. [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in heart (RPKM 41.6), kidney (RPKM 17.2) and 4 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See MYOM3 in Genome Data Viewer
    Location:
    1p36.11
    Exon count:
    37
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 1 NC_000001.11 (24056041..24112135, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 1 NC_060925.1 (23893755..23949845, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 1 NC_000001.10 (24382531..24438625, complement)

    Chromosome 1 - NC_000001.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376863 Neighboring gene ribosomal protein L36 pseudogene 5 Neighboring gene uncharacterized LOC107984931 Neighboring gene MYOM3 antisense RNA 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:24404247-24404747 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:24408271-24408772 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:24419469-24420132 Neighboring gene uncharacterized LOC124903878 Neighboring gene uncharacterized LOC105376864 Neighboring gene Sharpr-MPRA regulatory region 3135 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:24433598-24434138 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr1:24438827-24439335 Neighboring gene Sharpr-MPRA regulatory region 13639 Neighboring gene interleukin 22 receptor subunit alpha 1 Neighboring gene uncharacterized LOC124903879 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:24479387-24479984 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr1:24479985-24480582 Neighboring gene NANOG-H3K27ac hESC enhancer GRCh37_chr1:24480583-24481180 Neighboring gene interferon lambda receptor 1

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Bibliography

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    Related articles in PubMed

    1. An acute eccentric exercise increases circulating myomesin 3 fragments. Lee M, et al. J Physiol Sci, 2021 Jan 19. PMID 33468054, Free PMC Article
    2. Rare genetic mutations in Pakistani patients with dilated cardiomyopathy. Shakeel M, et al. Gene, 2018 Oct 5. PMID 29886034
    3. Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies. Rouillon J, et al. Hum Mol Genet, 2015 Sep 1. PMID 26060189, Free PMC Article
    4. Myomesin 3, a novel structural component of the M-band in striated muscle. Schoenauer R, et al. J Mol Biol, 2008 Feb 15. PMID 18177667
    5. Rho-family GTPase 1 (Rnd1) is a biomechanical stress-sensitive activator of cardiomyocyte hypertrophy. Kluge A, et al. J Mol Cell Cardiol, 2019 Apr. PMID 30797814

    See all (16) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. An acute eccentric exercise increases circulating myomesin 3 fragments.
      Title: An acute eccentric exercise increases circulating myomesin 3 fragments.
    2. mutations in Pakistani patients with dilated cardiomyopathy rs375563861 (C2orf40), rs143187236 (MYOM3), and rs564181443 (RTKN2) have 3 fold or higher allele frequency in South Asians than in the global populations
      Title: Rare genetic mutations in Pakistani patients with dilated cardiomyopathy.
    3. MYOM3 fragments hold promise for minimally invasive assessment of experimental therapies for DMD and other neuromuscular disorders.
      Title: Serum proteomic profiling reveals fragments of MYOM3 as potential biomarkers for monitoring the outcome of therapeutic interventions in muscular dystrophies.
    4. Observational study of gene-disease association. (HuGE Navigator)
      Title: Gene variants associated with ischemic stroke: the cardiovascular health study.
    Submit: New GeneRIF Correction

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    Genome-wide association of mood-incongruent psychotic bipolar disorder.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ35961, MGC71483

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein homodimerization activity ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  
    Process Evidence Code Pubs
    involved_in sarcomere organization IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    is_active_in M band IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in M band ISS
    Inferred from Sequence or Structural Similarity
    more info
    		  

    General protein information

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    Preferred Names
    myomesin-3
    Names
    myomesin family, member 3

    NCBI Reference Sequences (RefSeq)

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    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_152372.4 → NP_689585.3  myomesin-3

      See identical proteins and their annotated locations for NP_689585.3

      Status: VALIDATED

      Source sequence(s)
      AL591178, BX647453
      Consensus CDS
      CCDS41281.1
      UniProtKB/Swiss-Prot
      A6NF75, Q5VTT5, Q5VTT6, Q6AWC0, Q6AWC1, Q6NXF9, Q6ZRG7, Q7Z3G9, Q8NA11, Q96C54
      Related
      ENSP00000363557.3, ENST00000374434.4
      Conserved Domains (3) summary
      cd00063
      Location:802 → 891
      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 ...
      cd00096
      Location:1334 → 1337
      Ig; Ig strand A [structural motif]
      cl11960
      Location:1334 → 1424
      Ig; Immunoglobulin domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000001.11 Reference GRCh38.p14 Primary Assembly

      Range
      24056041..24112135 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060925.1 Alternate T2T-CHM13v2.0

      Range
      23893755..23949845 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5VTT5.1 GenPept UniProtKB/Swiss-Prot:Q5VTT5

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

    Chemical Information
    Molecular Biology Databases
    Research Materials
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