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

MYOM1 Gene

protein-coding   GIFtS: 55
GCID: GC18M003056

myomesin 1

(Previous names: myomesin 1 (skelemin) (185kD), myomesin 1 (skelemin) 185kDa,...)
 Explore 6 diseases affiliated with
MYOM1 via our new
 Human Malady Compendium 
Biological research products
for MYOM1
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section

Aliases
Myomesin 11 2     Myomesin 1 (Skelemin) (185kD)1
Myomesin 1 (Skelemin) 185kDa1 2     EH-Myomesin1
Myomesin 1, 185kDa1 2     SKELEMIN2
Myomesin Family Member 12 3     Myomesin (M-Protein) 1 (190kD)2
190 KDa Connectin-Associated Protein2 3     Myomesin-11
190 KDa Titin-Associated Protein2 3     

External Ids:    HGNC: 76131   Entrez Gene: 87362   Ensembl: ENSG000001016057   OMIM: 6035085   UniProtKB: P521793   

Export aliases for MYOM1 gene to outside databases

Previous GC identifers: GC18M003315 GC18M003054


(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 MYOM1:
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 (myomesin 1) and 165 kD (myomesin 2). This protein, myomesin 1,
like myomesin 2, titin, and other myofibrillar proteins contains structural modules with strong homology to either
fibronectin type III (motif I) or immunoglobulin C2 (motif II) domains. Myomesin 1 and myomesin 2 each have a unique
N-terminal region followed by 12 modules of motif I or motif II, in the arrangement II-II-I-I-I-I-I-II-II-II-II-II.
The two proteins share 50% sequence identity in this repeat-containing region. The head structure formed by these 2
proteins on one end of the titin string extends into the center of the M band. The integrating structure of the
sarcomere arises from muscle-specific members of the superfamily of immunoglobulin-like proteins. Alternatively
spliced transcript variants encoding different isoforms have been identified. (provided by RefSeq, Jul 2008)

UniProtKB/Swiss-Prot: MYOM1_HUMAN, P52179
Function: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This
binding is dose dependent

Gene Wiki entry for MYOM1


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NC_018929.1  NT_010859.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the MYOM1 gene promoter:
         Max1   AML1a   p300   Lmo2   GATA-1   C/EBPalpha   YY1   Evi-1   FOXO4   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidMYOM1 promoter sequence
   Search SABiosciences Chromatin IP Primers for MYOM1

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MYOM1


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

Entrez Gene cytogenetic band: 18p11.31   Ensembl cytogenetic band:  18p11.31   HGNC cytogenetic band: 18p11.31

MYOM1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MYOM1 gene location

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M003056:  view genomic region     (about GC identifiers)

Start:
3,066,805 bp from pter      End:
3,220,106 bp from pter
Size:
153,302 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MYOM1_HUMAN, P52179 (See protein sequence)
Recommended Name: Myomesin-1  
Size: 1685 amino acids; 187627 Da
Subunit: Homodimer (By similarity). Interacts with TTN/titin (By similarity). Interacts with PNKD
Subcellular location: Cytoplasm, myofibril, sarcomere, M line (By similarity)
Sequence caution: Sequence=CAA48833.1; Type=Erroneous initiation;
4 PDB 3D structures from and Proteopedia for MYOM1:
2R15 (3D)        2Y23 (3D)        2Y25 (3D)        3RBS (3D)    
Secondary accessions: Q14BD6 Q6H969 Q6ZUU0
Alternative splicing: 2 isoforms:  P52179-1   P52179-2   

Explore the universe of human proteins at neXtProt for MYOM1: NX_P52179

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P52179

  • MYOM1 Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_003794.3  NP_062830.1  

    ENSEMBL proteins: 
     ENSP00000348821   ENSP00000261606   ENSP00000462039   ENSP00000383413  

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    Uscn Proteins for MYOM1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005863striated muscle myosin thick filament TAS6537951
    GO:0030017sarcomere ----
    GO:0031430M band ISS--


    MYOM1 for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for MYOM1


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    MYOM1 for domains           About GeneDecksing

    5/6 InterPro domains/families (see all 6):
     IPR003598 Ig_sub2
     IPR007110 Ig-like_dom
     IPR003599 Ig_sub
     IPR003961 Fibronectin_type3
     IPR013098 Ig_I-set

    Graphical View of Domain Structure for InterPro Entry P52179

    ProtoNet protein and cluster: P52179

    2 Blocks protein families:
    IPB003598 Immunoglobulin C-2 type
    IPB003962 Fibronectin type III repeat signature


    UniProtKB/Swiss-Prot: MYOM1_HUMAN, P52179
    Similarity: Contains 5 fibronectin type-III domains
    Similarity: Contains 5 Ig-like C2-type (immunoglobulin-like) domains


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         UniProtKB/Swiss-Prot: MYOM1_HUMAN, P52179
    Function: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This
    binding is dose dependent

         Genatlas biochemistry entry for MYOM1:
    sarcomeric M-band protein,myomesin 1,binding the globular head of titin and the central region of light meromyosin,Ig
    superfamily,potentially involved in the assembly and/or stabilization of myofibrils,expressed in adult muscle

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    hsa-miR-577 hsa-miR-4279 hsa-miR-3674 hsa-miR-3935
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    Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0008307structural constituent of muscle TAS7505783
    GO:0042803protein homodimerization activity ISS--


    MYOM1 for ontologies           About GeneDecksing



    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Striated Muscle Contraction
    Striated Muscle Contraction1.00


    1 BioSystems Pathway for MYOM1 
        Striated Muscle Contraction


    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for MYOM1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/32 Interacting proteins for MYOM1 (P521791, 3 ENSP000003488214) via UniProtKB, MINT, STRING, and/or I2D (see all 32)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    MYH9P355793, ENSP000002161814I2D: score=2 STRING: ENSP00000216181
    TTNQ8WZ423I2D: score=1 
    DYSFO759231EBI-5353249,EBI-2799016
    MYBPC3ENSP000003821934STRING: ENSP00000382193
    MYH1ENSP000002262074STRING: ENSP00000226207
    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:0006936muscle contraction IEA--


    MYOM1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for MYOM1
    Search CenterWatch for drugs/clinical trials and news about MYOM1 

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
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    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for MYOM1 gene (2 alternative transcripts): 
    NM_003803.3  NM_019856.1  

    Unigene Cluster for MYOM1:

    Myomesin 1
    Hs.464469  [show with all ESTs]
    Unigene Representative Sequence: NM_003803
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000356443(uc002klp.3 uc002klq.3) ENST00000261606 ENST00000581804
    ENST00000581075 ENST00000582016 ENST00000577294 ENST00000400569

    miRNA
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    hsa-miR-577 hsa-miR-4279 hsa-miR-3674 hsa-miR-3935
    SwitchGear 3'UTR luciferase reporter plasmidMYOM1 3' UTR sequence
    Inhib. RNA
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    Additional cDNA sequence: 

    AF185573.1 AJ621424.1 AK125322.1 AK302444.1 BC116183.1 BC116184.1 X69090.1 

    8 DOTS entries:

    DT.413926  DT.91704330  DT.97778075  DT.100016864  DT.101972106  DT.121084589  DT.121084601  DT.40132532 

    24/65 AceView cDNA sequences (see all 65):

    BQ897781 BM698598 BM713338 NM_003803 F16628 Z36268 BM674683 AW195583 
    BU736236 AF185573 AA668129 CA398076 BM993795 BX485609 CN479326 AJ621424 
    CA392551 AU135612 AI221348 BU579815 AU137224 F31186 BG716893 BF056191 

    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

    MYOM1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCCGTGTCTC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image

    MYOM1 expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartPrimitive Heart TubePrimitive Heart Tube CellsMyocardium
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    Cardiomyocyte-like progenitor cells (Derivation of cardio...)

    See MYOM1 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for MYOM1

    SOURCE GeneReport for Unigene cluster: Hs.464469
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MYOM1

    (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 animals.

    Orthologs for MYOM1 gene from 5/15 species (see all 15)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    chicken
    (Gallus gallus)
    Aves MYOM16
    myomesin
    72(a)
    1 ↔ 1
    2(104021867-104095455)
    lizard
    (Anolis carolinensis)
    Reptilia MYOM16
    --
    72(a)
    1 ↔ 1
    4(42504860-42590881)
    African clawed frog
    (Xenopus laevis)
    Amphibia Xl.125952 Xenopus laevis transcribed sequence with moderate similarity more 74.84(n)    BJ071009.1 
    zebrafish
    (Danio rerio)
    Actinopterygii CU607104.26
    myom1a6
    myomesin 1a (skelemin)
    59(a)
    56(a)
    1 ↔ many
    1 ↔ many
    7(74360032-74419118)
    2(30631020-30674745)
    worm
    (Caenorhabditis elegans)
    Secernentea ttn-16
    TiTiN family member (ttn-1)
    1(a)
    1 → many
    V(6120892-6202609)


    ENSEMBL Gene Tree for MYOM1 (if available)
    TreeFam Gene Tree for MYOM1 (if available) 

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for MYOM1 gene
    MYBPH2  IGSF222  IGFN12  MYBPC22  MYBPC12  MYBPC32  MYBPHL2  MYOM32  
    MYOM22  
    3 SIMAP similar genes for MYOM1 using alignment to 4 protein entries:     MYOM1_HUMAN (see all proteins):
    MYLK    MYOM2    MYOM3

    MYOM1 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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

    10/3176 NCBI SNPs in MYOM1 are shown (see all 3176    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs133812981,2
    C,--3027581(+) GCTGGG/CGTTGG 2 -- ds50012Minor allele frequency- C:0.05CSA WA 120
    rs728586051,2
    C,--3027662(+) ATTTCC/AACAGC 2 -- ds50012Minor allele frequency- A:0.13NA 122
    rs1169107461,2
    C,F,--3028286(+) GCTATG/AAATGG 2 -- ut311Minor allele frequency- A:0.02EA 120
    rs799878441,2
    C,F,--3028301(+) TTCTTA/CACACA 2 -- ut311Minor allele frequency- C:0.08WA 118
    rs1150413621,2
    C,F,--3028362(+) TTTATA/GTGAGT 2 -- ut311Minor allele frequency- G:0.02WA 118
    rs1138240521,2
    --3029018(+) CCTTTG/ATATGC 2 -- int11Minor allele frequency- A:0.00CSA 1
    rs1128515811,2
    --3029072(+) GTTTAC/TGTCTA 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs753564581,2
    --3029351(+) GTATTC/TCTAAA 2 -- int10--------
    rs757488351,2
    --3030330(+) TTTTTC/TCCCAG 2 -- int11Minor allele frequency- T:0.00CSA 1
    rs560967551,2
    C,--3030562(+) CTTCAC/TATTTT 2 -- int10--------

    HapMap Linkage Disequilibrium report for MYOM1 (3066805 - 3220106 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
          Database of Genomic Variants (DGV) variations for MYOM1: --
    Human Gene Mutation Database (HGMD): MYOM1

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    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

    MYOM1 for disorders           About GeneDecksing

    OMIM gene information: 603508    OMIM disorders: --

    6 diseases for MYOM1:    About MalaCards
    myotonic dystrophy type 1    myopia-2    myotonic dystrophy    blepharospasm
    myopia    cardiomyopathy

    Human Genome Epidemiology (HuGE) Navigator: MYOM1 (1 document)

    Export disorders for MYOM1 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 MYOM1 gene, integrated from 9 sources (see all 32):
    (articles sorted by number of sources associating them with MYOM1)
        Utopia: connect your pdf to the dynamic
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    1. Assignment of the human gene for the sarcomeric M-band protein myomesin (MYOM1) to 18p11.31-p11.32. (PubMed id 9806852)1, 3, 9 Speel E.J....Hopman A.H. (1998)
    2. The globular head domain of titin extends into the center of the sarcomeric M band. cDNA cloning, epitope mapping and immunoelectron microscopy of two titin-associated proteins. (PubMed id 7505783)1, 2 Vinkemeier U.... Fuerst D.O. (1993)
    3. Myomesin is a molecular spring with adaptable elasticity. (PubMed id 15890201)1, 9 Schoenauer R....Agarkova I. (2005)
    4. Characterization of MR-1, a novel myofibrillogenesis regulator in human muscle. (PubMed id 15188056)2, 9 Li T.-B....Gong L.-M. (2004)
    5. Superhelical architecture of the myosin filament-linki ng protein myomesin with unusual elastic properties. (PubMed id 22347812)1 Pinotsis N....Wilmanns M. (2012)
    6. EH-myomesin splice isoform is a novel marker for dila ted cardiomyopathy. (PubMed id 21069531)1 Schoenauer R....Agarkova I. (2011)
    7. Alternative splicing of myomesin 1 gene is aberrantly regulated in myotonic dystrophy type 1. (PubMed id 21794030)1 Koebis M....Ishiura S. (2011)
    8. A myomesin mutation associated with hypertrophic card iomyopathy deteriorates dimerisation properties. (PubMed id 21256114)1 Siegert R....Ozcelik C. (2011)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1 Rose J.E....Uhl G.R. (2010)
    10. DNA sequence and analysis of human chromosome 18. (PubMed id 16177791)2 Nusbaum C.... Lander E.S. (2005)

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    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 8736 HGNC: 7613 AceView: MYOM1 Ensembl:ENSG00000101605 euGenes: HUgn8736
    ECgene: MYOM1 H-InvDB: MYOM1

    (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 MYOM1 Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for MYOM1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for MYOM1 gene:
    Search GeneIP for patents involving MYOM1

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