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Aliases for MYBPC3 Gene

Aliases for MYBPC3 Gene

  • Myosin Binding Protein C, Cardiac 2 3
  • C-Protein, Cardiac Muscle Isoform 3 4
  • CMD1MM 3 6
  • LVNC10 3 6
  • CMH4 3 6
  • Myosin-Binding Protein C, Cardiac-Type 3
  • Myosin-Binding Protein C, Cardiac 2
  • Cardiac MyBP-C 4
  • MYBP-C 3
  • FHC 3

External Ids for MYBPC3 Gene

Previous Symbols for MYBPC3 Gene

  • CMH4

Summaries for MYBPC3 Gene

Entrez Gene Summary for MYBPC3 Gene

  • MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy. [provided by RefSeq, Jul 2008]

GeneCards Summary for MYBPC3 Gene

MYBPC3 (Myosin Binding Protein C, Cardiac) is a Protein Coding gene. Diseases associated with MYBPC3 include left ventricular noncompaction 10 and mybpc3-related dilated cardiomyopathy. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Hypertrophic cardiomyopathy (HCM). GO annotations related to this gene include identical protein binding and structural constituent of muscle. An important paralog of this gene is MYBPC2.

UniProtKB/Swiss-Prot for MYBPC3 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

Gene Wiki entry for MYBPC3 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYBPC3 Gene

Genomics for MYBPC3 Gene

Genomic Location for MYBPC3 Gene

Start:
47,331,397 bp from pter
End:
47,352,702 bp from pter
Size:
21,306 bases
Orientation:
Minus strand

Genomic View for MYBPC3 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for MYBPC3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYBPC3 Gene

Regulatory Elements for MYBPC3 Gene

Proteins for MYBPC3 Gene

  • Protein details for MYBPC3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14896-MYPC3_HUMAN
    Recommended name:
    Myosin-binding protein C, cardiac-type
    Protein Accession:
    Q14896
    Secondary Accessions:
    • A5PL00
    • Q16410
    • Q6R2F7
    • Q9UE27
    • Q9UM53

    Protein attributes for MYBPC3 Gene

    Size:
    1274 amino acids
    Molecular mass:
    140762 Da
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for MYBPC3 Gene

    Alternative splice isoforms for MYBPC3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for MYBPC3 Gene

Proteomics data for MYBPC3 Gene at MOPED

Post-translational modifications for MYBPC3 Gene

  • Substrate for phosphorylation by PKA and PKC. Reversible phosphorylation appears to modulate contraction (By similarity).
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYBPC3 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for MYBPC3 Gene

Domains for MYBPC3 Gene

Gene Families for MYBPC3 Gene

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

UniProtKB/Swiss-Prot:

MYPC3_HUMAN
Domain:
  • Contains 3 fibronectin type-III domains.:
    • Q14896
  • Contains 7 Ig-like C2-type (immunoglobulin-like) domains.:
    • Q14896
Family:
  • Belongs to the immunoglobulin superfamily. MyBP family.:
    • Q14896
genes like me logo Genes that share domains with MYBPC3: view

Function for MYBPC3 Gene

Molecular function for MYBPC3 Gene

GENATLAS Biochemistry: myosin and titin binding protein C3,expressed in the A band of sarcomeres,including two isoforms cardiac and fast skeletal muscle,interacting with beta myosin S2
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 MYBPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001671 ATPase activator activity ISS --
GO:0003779 actin binding IEA --
GO:0005515 protein binding --
GO:0008307 structural constituent of muscle IMP 7493025
GO:0017022 myosin binding IDA 10024460
genes like me logo Genes that share ontologies with MYBPC3: view
genes like me logo Genes that share phenotypes with MYBPC3: view

Animal Models for MYBPC3 Gene

MGI Knock Outs for MYBPC3:

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targeting and HOMER Transcription for MYBPC3 Gene

Localization for MYBPC3 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYBPC3 Gene COMPARTMENTS Subcellular localization image for MYBPC3 gene
Compartment Confidence
cytoskeleton 4
cytosol 4
nucleus 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for MYBPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005829 cytosol TAS --
GO:0005863 striated muscle myosin thick filament ISS --
GO:0014705 C zone NAS 15166115
GO:0030016 myofibril --
GO:0030017 sarcomere IDA 10024460
genes like me logo Genes that share ontologies with MYBPC3: view

Pathways for MYBPC3 Gene

genes like me logo Genes that share pathways with MYBPC3: view

Pathways by source for MYBPC3 Gene

1 BioSystems pathway for MYBPC3 Gene
2 Reactome pathways for MYBPC3 Gene

Gene Ontology (GO) - Biological Process for MYBPC3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002027 regulation of heart rate IEA --
GO:0003007 heart morphogenesis IMP 7493025
GO:0006936 muscle contraction --
GO:0006942 regulation of striated muscle contraction ISS --
GO:0007155 cell adhesion IEA --
genes like me logo Genes that share ontologies with MYBPC3: view

Compounds for MYBPC3 Gene

(2) Novoseek inferred chemical compound relationships for MYBPC3 Gene

Compound -log(P) Hits PubMed IDs
arginine 12.1 1
atp 0 1
genes like me logo Genes that share compounds with MYBPC3: view

Transcripts for MYBPC3 Gene

Unigene Clusters for MYBPC3 Gene

Myosin binding protein C, cardiac:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYBPC3 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7a · 7b ^ 8 ^ 9 ^ 10a · 10b ^ 11a · 11b ^ 12a · 12b ^ 13a · 13b ^ 14a · 14b · 14c ^ 15a · 15b ^ 16 ^ 17 ^ 18 ^
SP1:
SP2:
SP3: -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11:

ExUns: 19a · 19b ^ 20 ^ 21 ^ 22a · 22b ^ 23 ^ 24a · 24b ^ 25 ^ 26
SP1:
SP2:
SP3:
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10:
SP11: -

Relevant External Links for MYBPC3 Gene

GeneLoc Exon Structure for
MYBPC3
ECgene alternative splicing isoforms for
MYBPC3

Expression for MYBPC3 Gene

mRNA expression in normal human tissues for MYBPC3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYBPC3 Gene

This gene is overexpressed in Heart - Left Ventricle (33.5) and Heart - Atrial Appendage (18.2).

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, and MOPED for MYBPC3 Gene

SOURCE GeneReport for Unigene cluster for MYBPC3 Gene Hs.524906

genes like me logo Genes that share expressions with MYBPC3: view

Orthologs for MYBPC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBPC3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYBPC3 36
  • 97.37 (n)
  • 97.1 (a)
MYBPC3 37
  • 100 (a)
OneToOne
cow
(Bos Taurus)
Mammalia MYBPC3 36
  • 87.75 (n)
  • 89.98 (a)
MYBPC3 37
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYBPC3 36
  • 88.61 (n)
  • 91.65 (a)
MYBPC3 37
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mybpc3 36
  • 85.98 (n)
  • 89.74 (a)
Mybpc3 16
Mybpc3 37
  • 89 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYBPC3 37
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYBPC3 37
  • 71 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mybpc3 36
  • 85.3 (n)
  • 89.21 (a)
chicken
(Gallus gallus)
Aves MYBPC3 36
  • 66.03 (n)
  • 69.4 (a)
MYBPC3 37
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYBPC3 37
  • 60 (a)
OneToOne
African clawed frog
(Xenopus laevis)
Amphibia LOC398261 36
tropical clawed frog
(Silurana tropicalis)
Amphibia mybpc3 36
  • 66.88 (n)
  • 67.43 (a)
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4662 36
zebrafish
(Danio rerio)
Actinopterygii mybpc3 36
  • 63.89 (n)
  • 64.54 (a)
mybpc3 37
  • 62 (a)
OneToOne
sea squirt
(Ciona savignyi)
Ascidiacea -- 37
  • 34 (a)
OneToMany
Species with no ortholog for MYBPC3:
  • 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)
  • 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)
  • 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)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for MYBPC3 Gene

ENSEMBL:
Gene Tree for MYBPC3 (if available)
TreeFam:
Gene Tree for MYBPC3 (if available)

Paralogs for MYBPC3 Gene

Paralogs for MYBPC3 Gene

genes like me logo Genes that share paralogs with MYBPC3: view

Variants for MYBPC3 Gene

Sequence variations from dbSNP and Humsavar for MYBPC3 Gene

SNP ID Clin Chr 11 pos Sequence Context AA Info Type MAF
rs896818 -- 47,343,211(+) GCCCC(A/G)TGATA intron-variant
rs1052373 Benign 47,333,236(-) ACGGA(A/G)CTCTG synonymous-codon, reference
rs1800565 Pathogenic, Cardiomyopathy, familial hypertrophic 4 (CMH4) 47,339,757(-) AGGCC(A/G)CATAC missense, reference
rs2071304 -- 47,350,826(-) GGGAA(C/G)TGATG intron-variant
rs2071305 -- 47,349,406(-) GCCCC(G/T)GGATG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for MYBPC3 Gene

Variant ID Type Subtype PubMed ID
nsv897323 CNV Loss 21882294
nsv832141 CNV Loss 17160897
nsv509404 CNV Insertion 20534489
esv2672909 CNV Deletion 23128226

Relevant External Links for MYBPC3 Gene

HapMap Linkage Disequilibrium report
MYBPC3
Human Gene Mutation Database (HGMD)
MYBPC3
Locus Specific Mutation Databases (LSDB)
MYBPC3

Disorders for MYBPC3 Gene

(2) OMIM Diseases for MYBPC3 Gene (600958)

UniProtKB/Swiss-Prot

MYPC3_HUMAN
  • Cardiomyopathy, familial hypertrophic 4 (CMH4) [MIM:115197]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269 PubMed:11499718, ECO:0000269 PubMed:11499719, ECO:0000269 PubMed:11815426, ECO:0000269 PubMed:12379228, ECO:0000269 PubMed:12628722, ECO:0000269 PubMed:12707239, ECO:0000269 PubMed:12818575, ECO:0000269 PubMed:12951062, ECO:0000269 PubMed:12974739, ECO:0000269 PubMed:14563344, ECO:0000269 PubMed:15114369, ECO:0000269 PubMed:15519027, ECO:0000269 PubMed:15563892, ECO:0000269 PubMed:16199542, ECO:0000269 PubMed:18403758, ECO:0000269 PubMed:18957093, ECO:0000269 PubMed:23840593, ECO:0000269 PubMed:7744002, ECO:0000269 PubMed:9048664, ECO:0000269 PubMed:9541104, ECO:0000269 PubMed:9541115, ECO:0000269 PubMed:9562578}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cardiomyopathy, dilated 1MM (CMD1MM) [MIM:615396]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269 PubMed:20215591}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Left ventricular non-compaction 10 (LVNC10) [MIM:615396]: A disease due to an arrest of myocardial morphogenesis. It is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies. {ECO:0000269 PubMed:21551322}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(10) Novoseek inferred disease relationships for MYBPC3 Gene

Disease -log(P) Hits PubMed IDs
death sudden cardiac 72.3 2
death sudden 65.4 5
ventricular hypertrophy 65.2 1
cardiomyopathy 63 6
hypertrophy 62.1 8

Relevant External Links for MYBPC3

GeneTests
MYBPC3
GeneReviews
MYBPC3
Genetic Association Database (GAD)
MYBPC3
Human Genome Epidemiology (HuGE) Navigator
MYBPC3
genes like me logo Genes that share disorders with MYBPC3: view

Publications for MYBPC3 Gene

  1. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy. (PMID: 7493026) Bonne G. … Schwartz K. (Nat. Genet. 1995) 3 4 23 49
  2. Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction? (PMID: 7744002) Gautel M. … Labeit S. (EMBO J. 1995) 2 3 4 23
  3. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. (PMID: 14563344) Alders M. … Mannens M. (Eur. Heart J. 2003) 3 4 23 49
  4. Mutations profile in Chinese patients with hypertrophic cardiomyopathy. (PMID: 15563892) Song L. … Hui R. (Clin. Chim. Acta 2005) 3 4 23 49
  5. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. (PMID: 15519027) Van Driest S.L. … Ackerman M.J. (J. Am. Coll. Cardiol. 2004) 3 4 23 49

Products for MYBPC3 Gene

  • antibodies-online peptides for MYBPC3
  • antibodies-online antibodies for MYBPC3
  • antibodies-online kits for MYBPC3

Sources for MYBPC3 Gene

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