Identity
HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
CPSFS1A,CPSFS1B,CPSKF1A,CPSKF1B,DA2A,DA2B,DA2B3,DA8,HEMHC,MYHC-EMB,MYHSE1,SMHCE
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: 4621
MIM: 160720
HGNC: 7573
Ensembl: ENSG00000109063
Variants:
dbSNP: 4621
ClinVar: 4621
TCGA: ENSG00000109063
COSMIC: MYH3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000109063 | ENST00000583535 | P11055 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38444278 | 2024 | Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B). | 1 |
| 38444278 | 2024 | Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B). | 1 |
| 37245538 | 2023 | METTL3 achieves lipopolysaccharide-induced myocardial injury via m(6)A-dependent stabilization of Myh3 mRNA. | 2 |
| 37245538 | 2023 | METTL3 achieves lipopolysaccharide-induced myocardial injury via m(6)A-dependent stabilization of Myh3 mRNA. | 2 |
| 31746383 | 2020 | Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. | 4 |
| 32315303 | 2020 | Mutations in the tail domain of MYH3 contributes to atrial septal defect. | 3 |
| 32767732 | 2020 | Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). | 5 |
| 32902138 | 2020 | Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. | 3 |
| 31746383 | 2020 | Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B. | 4 |
| 32315303 | 2020 | Mutations in the tail domain of MYH3 contributes to atrial septal defect. | 3 |
| 32767732 | 2020 | Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A). | 5 |
| 32902138 | 2020 | Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome. | 3 |
| 31030430 | 2019 | [Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis]. | 0 |
| 31030430 | 2019 | [Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis]. | 0 |
| 29314551 | 2018 | A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions. | 10 |
Citation
Dessen P
MYH3 (myosin heavy chain 3)
Atlas Genet Cytogenet Oncol Haematol. 2014-03-01
Online version: http://atlasgeneticsoncology.org/gene/53847/myh3-(myosin-heavy-chain-3)
