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Aliases for MYBPC2 Gene

Aliases for MYBPC2 Gene

  • Myosin Binding Protein C, Fast Type 2 3
  • MYBPCF 3 4 6
  • Fast-Type Muscle Myosin-Binding-Protein C 2 3
  • C-Protein, Skeletal Muscle Fast Isoform 3 4
  • Myosin-Binding Protein C, Fast-Type 2 3
  • Fast MyBP-C 3 4
  • MYBPC 3

External Ids for MYBPC2 Gene

Summaries for MYBPC2 Gene

Entrez Gene Summary for MYBPC2 Gene

  • This gene encodes a member of the myosin-binding protein C family. This family includes the fast-, slow- and cardiac-type isoforms, each of which is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. The protein encoded by this locus is referred to as the fast-type isoform. Mutations in the related but distinct genes encoding the slow-type and cardiac-type isoforms have been associated with distal arthrogryposis, type 1 and hypertrophic cardiomyopathy, respectively. [provided by RefSeq, Jul 2012]

GeneCards Summary for MYBPC2 Gene

MYBPC2 (Myosin Binding Protein C, Fast Type) is a Protein Coding gene. Diseases associated with MYBPC2 include distal arthrogryposis and hypertrophic cardiomyopathy. Among its related pathways are Striated Muscle Contraction and Striated Muscle Contraction. GO annotations related to this gene include actin binding and structural constituent of muscle. An important paralog of this gene is MYBPC3.

UniProtKB/Swiss-Prot for MYBPC2 Gene

  • Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYBPC2 Gene

Genomics for MYBPC2 Gene

Genomic Location for MYBPC2 Gene

Start:
50,432,903 bp from pter
End:
50,466,326 bp from pter
Size:
33,424 bases
Orientation:
Plus strand

Genomic View for MYBPC2 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYBPC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYBPC2 Gene

Regulatory Elements for MYBPC2 Gene

Proteins for MYBPC2 Gene

  • Protein details for MYBPC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14324-MYPC2_HUMAN
    Recommended name:
    Myosin-binding protein C, fast-type
    Protein Accession:
    Q14324
    Secondary Accessions:
    • A1L4G9

    Protein attributes for MYBPC2 Gene

    Size:
    1141 amino acids
    Molecular mass:
    128072 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MYBPC2 Gene

neXtProt entry for MYBPC2 Gene

Proteomics data for MYBPC2 Gene at MOPED

Post-translational modifications for MYBPC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYBPC2 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MYBPC2 Gene

Domains for MYBPC2 Gene

Gene Families for MYBPC2 Gene

HGNC:
  • ISET :Immunoglobulin superfamily / I-set domain containing
  • FN3 :Fibronectin type III domain containing
  • MYBP :Myosin binding proteins

UniProtKB/Swiss-Prot:

MYPC2_HUMAN
Domain:
  • Contains 3 fibronectin type-III domains.:
    • Q14324
  • Contains 7 Ig-like C2-type (immunoglobulin-like) domains.:
    • Q14324
Family:
  • Belongs to the immunoglobulin superfamily. MyBP family.:
    • Q14324
genes like me logo Genes that share domains with MYBPC2: view

Function for MYBPC2 Gene

Molecular function for MYBPC2 Gene

GENATLAS Biochemistry: myosin,and titin binding protein C,skeletal muscle,fast type,expressed in the A band of sarcomeres
UniProtKB/Swiss-Prot Function: Thick filament-associated protein located in the crossbridge region of vertebrate striated muscle a bands. In vitro it binds MHC, F-actin and native thin filaments, and modifies the activity of actin-activated myosin ATPase. It may modulate muscle contraction or may play a more structural role

Gene Ontology (GO) - Molecular Function for MYBPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003779 actin binding IEA --
GO:0005515 protein binding IPI 23414517
GO:0008307 structural constituent of muscle TAS 8375400
genes like me logo Genes that share ontologies with MYBPC2: view
genes like me logo Genes that share phenotypes with MYBPC2: view

No data available for Enzyme Numbers (IUBMB) , Animal Models , miRNA , Transcription Factor Targeting and HOMER Transcription for MYBPC2 Gene

Localization for MYBPC2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYBPC2 Gene COMPARTMENTS Subcellular localization image for MYBPC2 gene
Compartment Confidence
cytosol 4
cytoskeleton 3

Gene Ontology (GO) - Cellular Components for MYBPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0032982 myosin filament IEA --
genes like me logo Genes that share ontologies with MYBPC2: view

Pathways for MYBPC2 Gene

genes like me logo Genes that share pathways with MYBPC2: view

Pathways by source for MYBPC2 Gene

1 BioSystems pathway for MYBPC2 Gene
2 Reactome pathways for MYBPC2 Gene

Gene Ontology (GO) - Biological Process for MYBPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction --
GO:0007155 cell adhesion IEA --
GO:0030049 muscle filament sliding TAS --
genes like me logo Genes that share ontologies with MYBPC2: view

Transcripts for MYBPC2 Gene

mRNA/cDNA for MYBPC2 Gene

(1) REFSEQ mRNAs :
(4) Additional mRNA sequences :
(59) Selected AceView cDNA sequences:
(2) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for MYBPC2 Gene

Myosin binding protein C, fast type:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC2 Gene

No ASD Table

Relevant External Links for MYBPC2 Gene

GeneLoc Exon Structure for
MYBPC2
ECgene alternative splicing isoforms for
MYBPC2

Expression for MYBPC2 Gene

mRNA expression in normal human tissues for MYBPC2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYBPC2 Gene

This gene is overexpressed in Muscle - Skeletal (51.7).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYBPC2 Gene

SOURCE GeneReport for Unigene cluster for MYBPC2 Gene Hs.85937

genes like me logo Genes that share expressions with MYBPC2: view

Orthologs for MYBPC2 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBPC2 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYBPC2 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYBPC2 36
  • 87.89 (n)
  • 90.96 (a)
MYBPC2 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mybpc2 36
  • 85.56 (n)
  • 92.34 (a)
Mybpc2 16
Mybpc2 37
  • 93 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia -- 37
  • 15 (a)
ManyToMany
platypus
(Ornithorhynchus anatinus)
Mammalia MYBPC2 37
  • 78 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mybpc2 36
  • 85.22 (n)
  • 92.52 (a)
chicken
(Gallus gallus)
Aves MYBPC2 36
  • 71.36 (n)
  • 71.75 (a)
lizard
(Anolis carolinensis)
Reptilia MYBPC2 37
  • 74 (a)
OneToOne
zebrafish
(Danio rerio)
Actinopterygii mybpc2a 36
  • 63.82 (n)
  • 63.25 (a)
mybpc2a 37
  • 62 (a)
OneToMany
mybpc2b 37
  • 62 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 35 (a)
OneToMany
Species with no ortholog for MYBPC2:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • chimpanzee (Pan troglodytes)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYBPC2 Gene

ENSEMBL:
Gene Tree for MYBPC2 (if available)
TreeFam:
Gene Tree for MYBPC2 (if available)

Paralogs for MYBPC2 Gene

Paralogs for MYBPC2 Gene

Selected SIMAP similar genes for MYBPC2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with MYBPC2: view

Variants for MYBPC2 Gene

Sequence variations from dbSNP and Humsavar for MYBPC2 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type MAF
rs25665 - 50,454,140(+) ACCCC(A/G)TCGGC missense, reference
rs25666 -- 50,454,347(+) ATGTA(C/T)GATGG reference, synonymous-codon
rs25667 - 50,464,383(+) AATCC(A/C/G)TGAAG missense, reference
rs25668 -- 50,462,015(+) AACTG(C/T)GCTGT synonymous-codon, reference
rs25669 - 50,435,820(+) CCACC(A/G)GCGTT missense, reference

Structural Variations from Database of Genomic Variants (DGV) for MYBPC2 Gene

Variant ID Type Subtype PubMed ID
dgv3976n71 CNV Loss 21882294
nsv912281 CNV Loss 21882294
nsv912282 CNV Loss 21882294
esv2661463 CNV Deletion 23128226
esv2718733 CNV Deletion 23290073
esv2718734 CNV Deletion 23290073
esv2718735 CNV Deletion 23290073
esv1338683 CNV Deletion 17803354
nsv509750 CNV Insertion 20534489
nsv912283 CNV Gain 21882294

Relevant External Links for MYBPC2 Gene

HapMap Linkage Disequilibrium report
MYBPC2

Disorders for MYBPC2 Gene

(1) Novoseek inferred disease relationships for MYBPC2 Gene

Disease -log(P) Hits PubMed IDs
hypertrophy 2.78 1

Relevant External Links for MYBPC2

Genetic Association Database (GAD)
MYBPC2
Human Genome Epidemiology (HuGE) Navigator
MYBPC2
genes like me logo Genes that share disorders with MYBPC2: view

No data available for UniProtKB/Swiss-Prot for MYBPC2 Gene

Publications for MYBPC2 Gene

  1. Complete sequence of human fast-type and slow-type muscle myosin- binding-protein C (MyBP-C). Differential expression, conserved domain structure and chromosome assignment. (PMID: 8375400) Weber F.E. … Fischman D.A. (Eur. J. Biochem. 1993) 2 3 4 23
  2. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 49
  3. Isoform-specific interaction of the myosin-binding proteins (MyBPs) with skeletal and cardiac myosin is a property of the C-terminal immunoglobulin domain. (PMID: 9252413) Alyonycheva T.N. … Fischman D.A. (J. Biol. Chem. 1997) 3 23
  4. The C-terminal IgI domains of myosin-binding proteins C and H (MyBP-C and MyBP-H) are both necessary and sufficient for the intracellular crosslinking of sarcomeric myosin in transfected non-muscle cells. (PMID: 12154082) Welikson R.E. … Fischman D.A. (J. Cell. Sci. 2002) 3 23
  5. A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients. (PMID: 12628722) Konno T. … Mabuchi H. (J. Am. Coll. Cardiol. 2003) 23

Products for MYBPC2 Gene

  • antibodies-online peptides for MYBPC2
  • antibodies-online antibodies for MYBPC2
  • antibodies-online kits for MYBPC2

Sources for MYBPC2 Gene

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