Identity
HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
CMD1S,CMH1,MPD1,MYHCB,SPMD,SPMM
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: 4625
MIM: 160760
HGNC: 7577
Ensembl: ENSG00000092054
Variants:
dbSNP: 4625
ClinVar: 4625
TCGA: ENSG00000092054
COSMIC: MYH7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000092054 | ENST00000355349 | P12883 |
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 | |||
| PA31351 | MYBPC3 | 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 |
|---|---|---|---|
| 37565978 | 2024 | Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study. | 0 |
| 38101154 | 2024 | Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation. | 1 |
| 38362799 | 2024 | Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes. | 0 |
| 38456273 | 2024 | Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry. | 0 |
| 38538344 | 2024 | A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy. | 0 |
| 38683993 | 2024 | Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration. | 0 |
| 37565978 | 2024 | Penetrance and Prognosis of MYH7 Variant-Associated Cardiomyopathies: Results From a Dutch Multicenter Cohort Study. | 0 |
| 38101154 | 2024 | Enhanced myofilament calcium sensitivity aggravates abnormal calcium handling and diastolic dysfunction in patient-specific induced pluripotent stem cell-derived cardiomyocytes with MYH7 mutation. | 1 |
| 38362799 | 2024 | Multiplexed Functional Assessments of MYH7 Variants in Human Cardiomyocytes. | 0 |
| 38456273 | 2024 | Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry. | 0 |
| 38538344 | 2024 | A New Leu714Arg Variant in the Converter Domain of MYH7 is Associated with a Severe Form of Familial Hypertrophic Cardiomyopathy. | 0 |
| 38683993 | 2024 | Incomplete-penetrant hypertrophic cardiomyopathy MYH7 G256E mutation causes hypercontractility and elevated mitochondrial respiration. | 0 |
| 36217801 | 2023 | Left ventricular non-compaction cardiomyopathy: restrictive subtype with MYH7 gene mutation. | 1 |
| 36539320 | 2023 | Pathogenic variants in three families with distal muscle involvement. | 0 |
| 36902340 | 2023 | Cardiomyocyte Apoptosis Is Associated with Contractile Dysfunction in Stem Cell Model of MYH7 E848G Hypertrophic Cardiomyopathy. | 2 |
Citation
Dessen P
MYH7 (myosin heavy chain 7)
Atlas Genet Cytogenet Oncol Haematol. 2009-09-01
Online version: http://atlasgeneticsoncology.org/gene/51132/myh7-(myosin-heavy-chain-7)
