Human Gene MYOM2 (ENST00000262113.9_5) from GENCODE V47lift37
  Description: myomesin 2 (from RefSeq NM_003970.4)
Gencode Transcript: ENST00000262113.9_5
Gencode Gene: ENSG00000036448.10_8
Transcript (Including UTRs)
   Position: hg19 chr8:1,993,161-2,093,380 Size: 100,220 Total Exon Count: 38 Strand: +
Coding Region
   Position: hg19 chr8:1,998,881-2,092,905 Size: 94,025 Coding Exon Count: 37 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr8:1,993,161-2,093,380)mRNA (may differ from genome)Protein (1463 aa)
Gene SorterGenome BrowserOther Species FASTAGene interactionsTable SchemaAlphaFold
BioGPSEnsemblEntrez GeneExonPrimerGeneCardsHGNC
MalacardsMGIOMIMPubMedUniProtKBWikipedia
BioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYOM2_HUMAN
DESCRIPTION: RecName: Full=Myomesin-2; AltName: Full=165 kDa connectin-associated protein; AltName: Full=165 kDa titin-associated protein; AltName: Full=M-protein; AltName: Full=Myomesin family member 2;
FUNCTION: Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
SUBUNIT: Interacts with TTN/titin (By similarity).
INTERACTION: P35609:ACTN2; NbExp=2; IntAct=EBI-5357134, EBI-77797; O75923:DYSF; NbExp=3; IntAct=EBI-5357134, EBI-2799016; P21817:RYR1; NbExp=2; IntAct=EBI-5357134, EBI-1221290; Q8WZ42:TTN; NbExp=2; IntAct=EBI-5357134, EBI-681210;
SIMILARITY: Contains 5 fibronectin type-III domains.
SIMILARITY: Contains 5 Ig-like C2-type (immunoglobulin-like) domains.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYOM2
Diseases sorted by gene-association score: rheumatic fever (35), plasma cell neoplasm (19), rheumatic heart disease (18), osteosclerotic myeloma (17), smoldering myeloma (17), non-secretory myeloma (16), solitary osseous plasmacytoma (16), glomeruloid hemangioma (16), indolent myeloma (15), toxic shock syndrome (14), poems syndrome (13), mature b-cell neoplasm (13), neurogenic arthropathy (10), scarlet fever (10), monoclonal gammopathy of uncertain significance (9), hypersensitivity reaction type iv disease (9), plasma protein metabolism disease (9), median neuropathy (8), streptococcal toxic-shock syndrome (7), mononeuritis of upper limb and mononeuritis multiplex (7), ecthyma (7), pharyngitis (6), commensal bacterial infectious disease (6), polyclonal hypergammaglobulinemia (6), papilledema (6), panencephalitis, subacute sclerosing (6), impetigo (6), glycogen storage disease vii (6), amyloid tumor (6), 3-methylglutaconic aciduria, type iv (6), sciatic neuropathy (6), necrotizing fasciitis (5), murray valley encephalitis (5), mononeuropathy (5), chronic polyneuropathy (5), retinitis pigmentosa 30 (5), streptococcal meningitis (5), peripheral nervous system disease (4), upper respiratory tract disease (4), multiple myeloma (3)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 165.90 RPKM in Heart - Left Ventricle
Total median expression: 413.03 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -42.90135-0.318 Picture PostScript Text
3' UTR -158.50475-0.334 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR003961 - Fibronectin_type3
IPR007110 - Ig-like
IPR013783 - Ig-like_fold
IPR013098 - Ig_I-set
IPR003599 - Ig_sub
IPR003598 - Ig_sub2

Pfam Domains:
PF00041 - Fibronectin type III domain
PF00047 - Immunoglobulin domain
PF07679 - Immunoglobulin I-set domain
PF13895 - Immunoglobulin domain
PF13927 - Immunoglobulin domain

SCOP Domains:
48726 - Immunoglobulin
49265 - Fibronectin type III

ModBase Predicted Comparative 3D Structure on P54296
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0005515 protein binding
GO:0008307 structural constituent of muscle
GO:0019900 kinase binding
GO:0051015 actin filament binding
GO:0051371 muscle alpha-actinin binding
GO:0097493 structural molecule activity conferring elasticity

Biological Process:
GO:0002074 extraocular skeletal muscle development
GO:0006936 muscle contraction
GO:0006941 striated muscle contraction
GO:0007015 actin filament organization
GO:0045214 sarcomere organization
GO:0071688 striated muscle myosin thick filament assembly

Cellular Component:
GO:0005737 cytoplasm
GO:0005739 mitochondrion
GO:0005859 muscle myosin complex
GO:0030018 Z disc
GO:0031430 M band
GO:0032982 myosin filament


-  Descriptions from all associated GenBank mRNAs
  AK297890 - Homo sapiens cDNA FLJ58401 complete cds, highly similar to Myomesin-2.
BC052969 - Homo sapiens myomesin (M-protein) 2, 165kDa, mRNA (cDNA clone MGC:54260 IMAGE:6205359), complete cds.
JD290328 - Sequence 271352 from Patent EP1572962.
X69089 - Homo sapiens mRNA for skeletal muscle 165kD protein.
JD361133 - Sequence 342157 from Patent EP1572962.
AB384710 - Synthetic construct DNA, clone: pF1KB1755, Homo sapiens MYOM2 gene for myomesin-2, complete cds, without stop codon, in Flexi system.
JD131738 - Sequence 112762 from Patent EP1572962.
JD508420 - Sequence 489444 from Patent EP1572962.
JD372619 - Sequence 353643 from Patent EP1572962.
JD498574 - Sequence 479598 from Patent EP1572962.
JD410991 - Sequence 392015 from Patent EP1572962.
JD400463 - Sequence 381487 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: ENST00000262113.1, ENST00000262113.2, ENST00000262113.3, ENST00000262113.4, ENST00000262113.5, ENST00000262113.6, ENST00000262113.7, ENST00000262113.8, MYOM2_HUMAN, NM_003970, P54296, Q7Z3Y2, uc317gwx.1, uc317gwx.2
UCSC ID: ENST00000262113.9_5
RefSeq Accession: NM_003970.4
Protein: P54296 (aka MYOM2_HUMAN or MYM2_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.