Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MYBPC3 Gene

Aliases for MYBPC3 Gene

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

External Ids for MYBPC3 Gene

Previous HGNC Symbols for MYBPC3 Gene

  • CMH4

Previous GeneCards Identifiers for MYBPC3 Gene

  • GC11M049292
  • GC11M048230
  • GC11M047384
  • GC11M047317
  • GC11M047309
  • GC11M047052
  • GC11M047402
  • GC11M048073
  • GC11M048799
  • GC11M049901
  • GC11M047520

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 mybpc3-related dilated cardiomyopathy and mybpc3-related familial hypertrophic cardiomyopathy. Among its related pathways are Hypertrophic cardiomyopathy (HCM) and Striated Muscle Contraction. 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

Regulatory Elements for MYBPC3 Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for MYBPC3 Gene

Chromosome:
11
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

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

Antibody Products

No data available for DME Specific Peptides for MYBPC3 Gene

Domains & Families for MYBPC3 Gene

Graphical View of Domain Structure for InterPro Entry

Q14896

UniProtKB/Swiss-Prot:

MYPC3_HUMAN :
  • Contains 3 fibronectin type-III domains.
  • Belongs to the immunoglobulin superfamily. MyBP family.
Domain:
  • Contains 3 fibronectin type-III domains.
  • Contains 7 Ig-like C2-type (immunoglobulin-like) domains.
Family:
  • Belongs to the immunoglobulin superfamily. MyBP family.
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 IPI 21569246
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:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYBPC3

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , miRNA , Transcription Factor Targets 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

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

No data available for Subcellular locations from UniProtKB/Swiss-Prot for MYBPC3 Gene

Pathways & Interactions 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

SIGNOR curated interactions for MYBPC3 Gene

Is activated by:

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

Drugs & Compounds for MYBPC3 Gene

(2) Drugs for MYBPC3 Gene - From: NovoSeek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
ATP Pharma Activator 0
arginine Nutra 346
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for MYBPC3

Flow Cytometry Products

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 (x33.5) and Heart - Atrial Appendage (x18.2).

Protein differential expression in normal tissues from HIPED for MYBPC3 Gene

This gene is overexpressed in Heart (51.5) and Fetal heart (17.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with MYBPC3: view

Protein tissue co-expression partners for MYBPC3 Gene

Primer Products

In Situ Assay Products

No data available for mRNA Expression by UniProt/SwissProt for MYBPC3 Gene

Orthologs for MYBPC3 Gene

This gene was present in the common ancestor of chordates.

Orthologs for MYBPC3 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYBPC3 35
  • 87.75 (n)
  • 89.98 (a)
MYBPC3 36
  • 89 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYBPC3 35
  • 88.61 (n)
  • 91.65 (a)
MYBPC3 36
  • 91 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Mybpc3 35
  • 85.98 (n)
  • 89.74 (a)
Mybpc3 16
Mybpc3 36
  • 89 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYBPC3 35
  • 97.37 (n)
  • 97.1 (a)
MYBPC3 36
  • 100 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Mybpc3 35
  • 85.3 (n)
  • 89.21 (a)
oppossum
(Monodelphis domestica)
Mammalia MYBPC3 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYBPC3 36
  • 71 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYBPC3 35
  • 66.03 (n)
  • 69.4 (a)
MYBPC3 36
  • 72 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYBPC3 36
  • 60 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia mybpc3 35
  • 66.88 (n)
  • 67.43 (a)
African clawed frog
(Xenopus laevis)
Amphibia LOC398261 35
zebrafish
(Danio rerio)
Actinopterygii mybpc3 35
  • 63.89 (n)
  • 64.54 (a)
mybpc3 36
  • 62 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.4662 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 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/C/G/T)TGATA intron-variant
rs1052373 Benign, Benign 47,333,236(-) ACGGA(A/G)CTCTG synonymous-codon, reference
rs1800565 Pathogenic, 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

Variation tolerance for MYBPC3 Gene

Residual Variation Intolerance Score: 68.88% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.27; 76.39% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYBPC3 Gene

HapMap Linkage Disequilibrium report
MYBPC3
Human Gene Mutation Database (HGMD)
MYBPC3

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYBPC3 Gene

Disorders for MYBPC3 Gene

MalaCards: The human disease database

(16) MalaCards diseases for MYBPC3 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, NovoSeek, and GeneCards

Disorder Aliases PubMed IDs
mybpc3-related dilated cardiomyopathy
mybpc3-related familial hypertrophic cardiomyopathy
cardiomyopathy, hypertrophic, 4
  • cardiomyopathy, familial hypertrophic, 4
left ventricular noncompaction 10
  • cardiomyopathy, dilated, 1mm
hypertrophic cardiomyopathy
  • familial hypertrophic cardiomyopathy
- elite association

UniProtKB/Swiss-Prot

MYPC3_HUMAN
  • 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.
  • 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.
  • 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.

Relevant External Links for MYBPC3

Genetic Association Database (GAD)
MYBPC3
Human Genome Epidemiology (HuGE) Navigator
MYBPC3
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYBPC3
genes like me logo Genes that share disorders with MYBPC3: view

No data available for Genatlas for MYBPC3 Gene

Publications for MYBPC3 Gene

  1. 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 23 67
  2. [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil]. (PMID: 20414521) Marsiglia J.D. … AraA_jo A.Q. (Arq. Bras. Cardiol. 2010) 23 67
  3. Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy. (PMID: 20433692) RodrA-guez-GarcA-a M.I. … Hermida-Prieto M. (BMC Med. Genet. 2010) 23 67
  4. Limited distribution of a cardiomyopathy-associated variant in India. (PMID: 20201939) Simonson T.S. … Jorde L.B. (Ann. Hum. Genet. 2010) 23 67
  5. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. (PMID: 20215591) Hershberger R.E. … Gonzalez-Quintana J. (Circ Cardiovasc Genet 2010) 23 67

Products for MYBPC3 Gene

Sources for MYBPC3 Gene

Back to Top

Content