MYBPC2 (myosin binding protein C2)

2014-11-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
MYBPC,MYBPCF,fsMyBP-C
FUSION GENES

Other Information

Locus ID:

NCBI: 4606
MIM: 160793
HGNC: 7550
Ensembl: ENSG00000086967

Variants:

dbSNP: 4606
ClinVar: 4606
TCGA: ENSG00000086967
COSMIC: MYBPC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000086967ENST00000357701Q14324
ENSG00000086967ENST00000357701A0A140VJQ0

Expression (GTEx)

0
100
200
300
400
500
600
700
800
900

Pathways

PathwaySourceExternal ID
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
188177842008Understanding the organisation and role of myosin binding protein C in normal striated muscle by comparison with MyBP-C knockout cardiac muscle.69
123861472002Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.38
182015732008Support for a trimeric collar of myosin binding protein C in cardiac and fast skeletal muscle, but not in slow skeletal muscle.13
207406422011Differential methylation of CpG sites in two isoforms of myosin binding protein C, an important hypertrophic cardiomyopathy gene.8
206054132010A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy.3
178768142008Computational analysis of folding and mutation properties of C5 domain of myosin binding protein C.1

Citation

Dessen P

MYBPC2 (myosin binding protein C2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70598/mybpc2