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Aliases for MYOM2 Gene

Aliases for MYOM2 Gene

  • Myomesin 2 2 3 5
  • 165 KDa Connectin-Associated Protein 3 4
  • 165 KDa Titin-Associated Protein 3 4
  • Myomesin (M-Protein) 2, 165kDa 2 3
  • Myomesin Family Member 2 3 4
  • M-Protein 3 4
  • Titin-Associated Protein, 165 KD 3
  • Myomesin (M-Protein) 2 (165kD) 2
  • M-Band Protein 3
  • TTNAP 3

External Ids for MYOM2 Gene

Previous GeneCards Identifiers for MYOM2 Gene

  • GC08P001752
  • GC08M002086
  • GC08P002143
  • GC08P001980
  • GC08P001809
  • GC08P001993

Summaries for MYOM2 Gene

Entrez Gene Summary for MYOM2 Gene

  • 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]

GeneCards Summary for MYOM2 Gene

MYOM2 (Myomesin 2) is a Protein Coding gene. Diseases associated with MYOM2 include rheumatic fever and streptococcal toxic-shock syndrome. GO annotations related to this gene include structural constituent of muscle. An important paralog of this gene is MYOM1.

UniProtKB/Swiss-Prot for MYOM2 Gene

  • Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.

Gene Wiki entry for MYOM2 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOM2 Gene

Genomics for MYOM2 Gene

Regulatory Elements for MYOM2 Gene

Genomic Location for MYOM2 Gene

Chromosome:
8
Start:
2,045,040 bp from pter
End:
2,165,552 bp from pter
Size:
120,513 bases
Orientation:
Plus strand

Genomic View for MYOM2 Gene

Genes around MYOM2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOM2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOM2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOM2 Gene

Proteins for MYOM2 Gene

  • Protein details for MYOM2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P54296-MYOM2_HUMAN
    Recommended name:
    Myomesin-2
    Protein Accession:
    P54296
    Secondary Accessions:
    • Q7Z3Y2

    Protein attributes for MYOM2 Gene

    Size:
    1465 amino acids
    Molecular mass:
    164896 Da
    Quaternary structure:
    • Interacts with TTN/titin.

neXtProt entry for MYOM2 Gene

Proteomics data for MYOM2 Gene at MOPED

Post-translational modifications for MYOM2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYOM2 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

No data available for DME Specific Peptides for MYOM2 Gene

Domains & Families for MYOM2 Gene

Suggested Antigen Peptide Sequences for MYOM2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P54296

UniProtKB/Swiss-Prot:

MYOM2_HUMAN :
  • Contains 5 fibronectin type-III domains.
Domain:
  • Contains 5 fibronectin type-III domains.
  • Contains 5 Ig-like C2-type (immunoglobulin-like) domains.
genes like me logo Genes that share domains with MYOM2: view

Function for MYOM2 Gene

Molecular function for MYOM2 Gene

GENATLAS Biochemistry:
sarcomeric M-band protein,myomesin 2,binding the globular head of titin and the central region of light meromyosin,Ig superfamily,transiently expressed in all developing skeletal muscle fibers,subsequently down-regulated and finally expressed again only in adult cardiac and fast skeletal muscles fibers
UniProtKB/Swiss-Prot Function:
Major component of the vertebrate myofibrillar M band. Binds myosin, titin, and light meromyosin. This binding is dose dependent.
genes like me logo Genes that share phenotypes with MYOM2: view

Animal Model Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for MYOM2 Gene

Localization for MYOM2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOM2 Gene

Cytoplasm, myofibril, sarcomere, M line.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYOM2 Gene COMPARTMENTS Subcellular localization image for MYOM2 gene
Compartment Confidence
cytosol 3
mitochondrion 3
nucleus 2

Gene Ontology (GO) - Cellular Components for MYOM2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005739 mitochondrion IDA 20833797
genes like me logo Genes that share ontologies with MYOM2: view

Pathways & Interactions for MYOM2 Gene

SuperPathways for MYOM2 Gene

No Data Available

SIGNOR curated interactions for MYOM2 Gene

Is inactivated by:

Gene Ontology (GO) - Biological Process for MYOM2 Gene

None

No data available for Pathways by source for MYOM2 Gene

Drugs & Compounds for MYOM2 Gene

(1) Drugs for MYOM2 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(1) Additional Compounds for MYOM2 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYOM2: view

Transcripts for MYOM2 Gene

Unigene Clusters for MYOM2 Gene

Myomesin 2:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYOM2 Gene

No ASD Table

Relevant External Links for MYOM2 Gene

GeneLoc Exon Structure for
MYOM2
ECgene alternative splicing isoforms for
MYOM2

Expression for MYOM2 Gene

mRNA expression in normal human tissues for MYOM2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYOM2 Gene

This gene is overexpressed in Heart - Left Ventricle (x21.5), Muscle - Skeletal (x15.7), and Heart - Atrial Appendage (x10.2).

Protein differential expression in normal tissues from HIPED for MYOM2 Gene

This gene is overexpressed in Heart (61.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYOM2 Gene



SOURCE GeneReport for Unigene cluster for MYOM2 Gene Hs.443683

genes like me logo Genes that share expression patterns with MYOM2: view

Protein tissue co-expression partners for MYOM2 Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MYOM2 Gene

Orthologs for MYOM2 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYOM2 Gene

Organism Taxonomy Gene Similarity Type Details
mouse
(Mus musculus)
Mammalia Myom2 35
  • 82.42 (n)
  • 89.4 (a)
Myom2 16
Myom2 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYOM2 35
  • 98.68 (n)
  • 99.45 (a)
MYOM2 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myom2 35
  • 82.44 (n)
  • 89.12 (a)
cow
(Bos Taurus)
Mammalia MYOM2 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOM2 36
  • 80 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYOM2 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 86 (a)
OneToMany
-- 36
  • 83 (a)
OneToMany
chicken
(Gallus gallus)
Aves MYOM2 35
  • 70.53 (n)
  • 72.79 (a)
MYOM2 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOM2 36
  • 73 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myom2 35
  • 66.67 (n)
  • 69.05 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.24214 35
zebrafish
(Danio rerio)
Actinopterygii wu:fi38e05 35
  • 60.38 (n)
  • 55.23 (a)
MYOM2 36
  • 54 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG14964 36
  • 12 (a)
ManyToMany
sls 36
  • 2 (a)
ManyToMany
Species with no ortholog for MYOM2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYOM2 Gene

ENSEMBL:
Gene Tree for MYOM2 (if available)
TreeFam:
Gene Tree for MYOM2 (if available)

Paralogs for MYOM2 Gene

Paralogs for MYOM2 Gene

(3) SIMAP similar genes for MYOM2 Gene using alignment to 2 proteins:

genes like me logo Genes that share paralogs with MYOM2: view

Variants for MYOM2 Gene

Sequence variations from dbSNP and Humsavar for MYOM2 Gene

SNP ID Clin Chr 08 pos Sequence Context AA Info Type
rs2294066 - 2,098,870(+) CTTGA(C/T)GGAAG reference, missense
rs2280896 - 2,109,417(+) GAATT(A/C/T)GCTTA reference, missense
rs35985218 - 2,052,291(+) AAGAT(A/C/G)AGGAG reference, missense
rs17064618 - 2,057,765(+) TCCCA(C/T)GCCCG reference, missense
rs2272720 - 2,073,341(+) CAGAC(A/G/T)TGCTG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYOM2 Gene

Variant ID Type Subtype PubMed ID
dgv7588n71 CNV Gain 21882294
nsv889712 CNV Gain 21882294
nsv889724 CNV Gain 21882294
dgv7598n71 CNV Loss 21882294
dgv7600n71 CNV Gain 21882294
nsv528662 CNV Loss 19592680
nsv465278 CNV Loss 19166990
dgv7601n71 CNV Gain 21882294
nsv889748 CNV Gain+Loss 21882294
nsv889749 CNV Gain 21882294
esv2422414 CNV Duplication 17116639
esv2422491 CNV Duplication 17116639
nsv465279 CNV Loss 19166990
esv2736368 CNV Deletion 23290073
esv2049945 CNV Deletion 18987734
esv2736369 CNV Deletion 23290073
esv2657215 CNV Deletion 23128226
esv2736370 CNV Deletion 23290073
esv2661335 CNV Deletion 23128226
nsv398389 CNV Loss 16902084
esv2736371 CNV Deletion 23290073
dgv7602n71 CNV Gain 21882294
nsv522301 CNV Gain 19592680
esv2433339 CNV Deletion 19546169
esv2736372 CNV Deletion 23290073
esv2736373 CNV Deletion 23290073
esv2736375 CNV Deletion 23290073
esv1490447 CNV Deletion 17803354
esv1007198 CNV Deletion 20482838
esv2736376 CNV Deletion 23290073
esv2736377 CNV Deletion 23290073
nsv889752 CNV Gain 21882294
esv2736378 CNV Deletion 23290073
esv2736379 CNV Deletion 23290073
esv2736380 CNV Deletion 23290073
esv24980 CNV Loss 19812545
nsv820985 CNV Deletion 20802225
esv3586 CNV Deletion 18987735
dgv1236e201 CNV Deletion 23290073
esv1010014 CNV Deletion 20482838
esv1567125 CNV Deletion 17803354
esv2736382 CNV Deletion 23290073
esv1967473 CNV Deletion 18987734
nsv397833 CNV Loss 16902084
esv1094537 CNV Deletion 17803354
esv2108954 CNV Deletion 18987734
nsv516842 CNV Loss 19592680
dgv851n27 CNV Loss 19166990
nsv889753 CNV Gain 21882294
nsv821654 CNV Gain 15273396
esv29041 CNV Gain 19812545
esv2736384 CNV Deletion 23290073
nsv516559 CNV Gain 19592680
nsv889754 CNV Loss 21882294
nsv526104 CNV Loss 19592680
nsv397359 CNV Loss 16902084
esv1769844 CNV Insertion 17803354
esv2736386 CNV Deletion 23290073
esv5208 CNV Deletion 18987735
esv2736387 CNV Deletion 23290073
esv996375 CNV Deletion 20482838
esv2736388 CNV Deletion 23290073
esv2736389 CNV Deletion 23290073
esv27413 CNV Loss 19812545
nsv397311 CNV Loss 16902084
esv2666982 CNV Deletion 23128226
esv2736390 CNV Deletion 23290073
esv2736391 CNV Deletion 23290073
nsv824478 CNV Loss 20364138
nsv438016 CNV Loss 16468122
nsv514463 CNV Gain 21397061
nsv442317 CNV CNV 18776908
esv22787 CNV Loss 19812545

Variation tolerance for MYOM2 Gene

Residual Variation Intolerance Score: 99.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.71; 98.93% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYOM2 Gene

HapMap Linkage Disequilibrium report
MYOM2
Human Gene Mutation Database (HGMD)
MYOM2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOM2 Gene

Disorders for MYOM2 Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYOM2 Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
rheumatic fever
  • acute rheumatic fever
streptococcal toxic-shock syndrome
  • streptococcal tss
toxic shock syndrome
  • toxic shock
- elite association - COSMIC cancer census association via MalaCards
Search MYOM2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYOM2

Genetic Association Database (GAD)
MYOM2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYOM2
genes like me logo Genes that share disorders with MYOM2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYOM2 Gene

Publications for MYOM2 Gene

  1. 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. (PMID: 7505783) Vinkemeier U. … Fuerst D.O. (J. Cell Sci. 1993) 3 4 67
  2. Assignment of the human gene for endosarcomeric cytoskeletal M-protein (MYOM2) to 8p23.3. (PMID: 9933576) van der Ven P.F. … FA1rst D.O. (Genomics 1999) 3 23
  3. Genome-wide association study of selenium concentrations. (PMID: 25343990) Cornelis M.C. … He K. (Hum. Mol. Genet. 2015) 3
  4. A genome-wide search for quantitative trait loci affecting the cortical surface area and thickness of Heschl's gyrus. (PMID: 25130324) Cai D.C. … Hagoort P. (Genes Brain Behav. 2014) 3
  5. A human skeletal muscle interactome centered on proteins involved in muscular dystrophies: LGMD interactome. (PMID: 23414517) Blandin G. … Richard I. (Skelet Muscle 2013) 3

Products for MYOM2 Gene

Sources for MYOM2 Gene

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