Identity
HGNC
LOCATION
11p11.2
LOCUSID
ALIAS
CMD1MM,CMH4,FHC,LVNC10,MYBP-C,cMyBP-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: 4607
MIM: 600958
HGNC: 7551
Ensembl: ENSG00000134571
Variants:
dbSNP: 4607
ClinVar: 4607
TCGA: ENSG00000134571
COSMIC: MYBPC3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000134571 | ENST00000256993 | A0A0A0MQU5 |
| ENSG00000134571 | ENST00000399249 | A8MXZ9 |
| ENSG00000134571 | ENST00000544791 | F5GZR4 |
| ENSG00000134571 | ENST00000545968 | Q14896 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA162375571 | ACTC1 | Gene | DataAnnotation | associated | |||
| PA231 | LMNA | Gene | DataAnnotation | associated | |||
| PA28707 | GLA | Gene | DataAnnotation | associated | |||
| PA31374 | MYH7 | Gene | DataAnnotation | associated | |||
| PA31380 | MYL2 | Gene | DataAnnotation | associated | |||
| PA31381 | MYL3 | Gene | DataAnnotation | associated | |||
| PA33752 | PRKAG2 | Gene | DataAnnotation | associated | |||
| PA36636 | TNNI3 | Gene | DataAnnotation | associated | |||
| PA36638 | TNNT2 | Gene | DataAnnotation | associated | |||
| PA36690 | TPM1 | Gene | DataAnnotation | associated | |||
| PA443632 | Cardiomyopathy, Dilated | Disease | DataAnnotation | associated | |||
| PA443633 | Cardiomyopathy, Hypertrophic | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38042491 | 2024 | Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy. | 1 |
| 38258577 | 2024 | A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans. | 0 |
| 38387507 | 2024 | Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy. | 0 |
| 38456273 | 2024 | Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry. | 0 |
| 38877002 | 2024 | Cardiac myosin binding protein-C phosphorylation as a function of multiple protein kinase and phosphatase activities. | 1 |
| 38042491 | 2024 | Missense mutations in the central domains of cardiac myosin binding protein-C and their potential contribution to hypertrophic cardiomyopathy. | 1 |
| 38258577 | 2024 | A Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans. | 0 |
| 38387507 | 2024 | Missense variants in phospholamban and cardiac myosin binding protein identified in patients with a family history and clinical diagnosis of dilated cardiomyopathy. | 0 |
| 38456273 | 2024 | Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry. | 0 |
| 38877002 | 2024 | Cardiac myosin binding protein-C phosphorylation as a function of multiple protein kinase and phosphatase activities. | 1 |
| 36744470 | 2023 | Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM. | 7 |
| 36893011 | 2023 | cMyBP-C ablation in human engineered cardiac tissue causes progressive Ca2+-handling abnormalities. | 5 |
| 36946992 | 2023 | Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations? | 0 |
| 37002766 | 2023 | Identification of Variants and Mutational Analyses of Cardiac Myosin-binding Protein C (MYBPC3) Gene of Adult Bangladeshi Patients with Hypertrophic Cardiomyopathy. | 0 |
| 37061858 | 2023 | [No Effect of the p.Arg230His Variant Of The VCL Protein on the Course of the Hypertrophic Cardiomyopathy In Russian Family Carrying The p.Gln1233Ter Pathogenic Variant In The MYBPC3 Gene]. | 0 |
Citation
Dessen P
MYBPC3 (myosin binding protein C3)
Atlas Genet Cytogenet Oncol Haematol. 2010-03-01
Online version: http://atlasgeneticsoncology.org/gene/51379/mybpc3
