Identity
HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
MYBPC,MYBPCF,fsMyBP-C
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 4606
MIM: 160793
HGNC: 7550
Ensembl: ENSG00000086967
Variants:
dbSNP: 4606
ClinVar: 4606
TCGA: ENSG00000086967
COSMIC: MYBPC2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000086967 | ENST00000357701 | Q14324 |
| ENSG00000086967 | ENST00000357701 | A0A140VJQ0 |
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Muscle contraction | REACTOME | R-HSA-397014 |
| Striated Muscle Contraction | REACTOME | R-HSA-390522 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 33499774 | 2021 | MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma. | 6 |
| 33499774 | 2021 | MYBPC2 and MYL1 as Significant Gene Markers for Rhabdomyosarcoma. | 6 |
| 20740642 | 2011 | Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene. | 10 |
| 20740642 | 2011 | Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene. | 10 |
| 20605413 | 2010 | A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy. | 6 |
| 20605413 | 2010 | A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy. | 6 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 17876814 | 2008 | Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C. | 3 |
| 18201573 | 2008 | Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle. | 14 |
| 18817784 | 2008 | Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle. | 96 |
| 17876814 | 2008 | Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C. | 3 |
| 18201573 | 2008 | Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle. | 14 |
| 18817784 | 2008 | Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle. | 96 |
| 12386147 | 2002 | Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations. | 43 |
Citation
Dessen P
MYBPC2 (myosin binding protein C2)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/70598/
