MYBPC3 (myosin binding protein C3)

2010-03-01  

Identity

HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
CMD1MM,CMH4,FHC,LVNC10,MYBP-C,cMyBP-C
FUSION GENES

Other Information

Locus ID:

NCBI: 4607
MIM: 600958
HGNC: 7551
Ensembl: ENSG00000134571

Variants:

dbSNP: 4607
ClinVar: 4607
TCGA: ENSG00000134571
COSMIC: MYBPC3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000134571ENST00000256993A0A0A0MQU5
ENSG00000134571ENST00000399249A8MXZ9
ENSG00000134571ENST00000544791F5GZR4
ENSG00000134571ENST00000545968Q14896

Expression (GTEx)

0
500
1000
1500

Pathways

PathwaySourceExternal ID
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA162375571ACTC1GeneDataAnnotationassociated
PA231LMNAGeneDataAnnotationassociated
PA28707GLAGeneDataAnnotationassociated
PA31374MYH7GeneDataAnnotationassociated
PA31380MYL2GeneDataAnnotationassociated
PA31381MYL3GeneDataAnnotationassociated
PA33752PRKAG2GeneDataAnnotationassociated
PA36636TNNI3GeneDataAnnotationassociated
PA36638TNNT2GeneDataAnnotationassociated
PA36690TPM1GeneDataAnnotationassociated
PA443632Cardiomyopathy, DilatedDiseaseDataAnnotationassociated
PA443633Cardiomyopathy, HypertrophicDiseaseDataAnnotationassociated

References

Pubmed IDYearTitleCitations
192737182009Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.130
155190272004Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.111
155190272004Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.111
188020262008Acceleration of crossbridge kinetics by protein kinase A phosphorylation of cardiac myosin binding protein C modulates cardiac function.101
191517132009A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.101
191517132009A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.101
184037582008Shared genetic causes of cardiac hypertrophy in children and adults.100
202155912010Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.86
202155912010Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85

Citation

Dessen P

MYBPC3 (myosin binding protein C3)

Atlas Genet Cytogenet Oncol Haematol. 2010-03-01

Online version: http://atlasgeneticsoncology.org/gene/51379/mybpc3