MYH11 (myosin heavy chain) (incomplete)
1999-06-01 Jean-Loup Huret AffiliationGenetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Identity
HGNC
LOCATION
16p13.11
IMAGE
LEGEND
MYH11 (myosin heavy chain) (incomplete) Hybridization with XL CBFB/MYH11 probe (Metasystems, Germany) showing the orange labeled probe hybridizing to CBFB, and a green labeled probe hybridizing to the smooth muscle myosin heavy chain gene (MYH11) on 16p13.11 - Courtesy Adriana Zamecnikova.
LOCUSID
ALIAS
AAT4,FAA4,SMHC,SMMHC,VSCM2
FUSION GENES
DNA/RNA
c-MYH11 (16p13) in normal cells: PAC 114C15 (top) and PAC 893C15 (below) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
Transcription
alternate splicing in 3
Proteins
Description
the proteins name is MYST; 214 KDa, 1857 amino acids known; N-term ATPase globular domain responsible for actin binding and mechanical movement, and a C-term long repeat of coil-coil domain to facilitate filament aggregates; forms hetero-hexameres
Expression
smooth muscle
Function
muscle contraction
Homology
member of the myosin II family
Implicated in
Entity name
inv(16)(p13q22), t(16;16)(p13;q22), and del(16)(q22) in acute non lymphoblastic leukaemia (AML) or myelodysplastic syndromes (MDS) --> CBFB - MYH11
Disease
nearly pathognomonic of M4eo-AML: with eosinophilia; frequent CNS involvement
Prognosis
high CR rate; better prognosis than most other AML
Cytogenetics
the 3 chromosome anomalies are variants of each other
Hybrid gene
5 CBFb - 3 MYH11
Fusion protein
the N-trem and most of CBFb is fused to the MYH11 C-term with its multimerization domain
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 8338941 | 1993 | Identification of yeast artificial chromosomes containing the inversion 16 p-arm breakpoint associated with acute myelomonocytic leukemia. | Liu P et al |
| 8219185 | 1993 | A gene for a myosin peptide is disrupted by the inv(16)(p13q22) in acute nonlymphocytic leukemia M4Eo. | van der Reijden BA et al |
Other Information
Locus ID:
NCBI: 4629
MIM: 160745
HGNC: 7569
Ensembl: ENSG00000133392
Variants:
dbSNP: 4629
ClinVar: 4629
TCGA: ENSG00000133392
COSMIC: MYH11
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA161907438 | Thoracic Aortic Aneurysms and Dissections (TAAD) | Disease | DataAnnotation | associated | |||
| PA166123310 | loeys-dietz syndrome | Disease | DataAnnotation | associated | |||
| PA24456 | ACTA2 | Gene | DataAnnotation | associated | |||
| PA28016 | FBN1 | Gene | DataAnnotation | associated | |||
| PA30526 | SMAD3 | Gene | DataAnnotation | associated | |||
| PA31388 | MYLK | Gene | DataAnnotation | associated | |||
| PA36485 | TGFBR1 | Gene | DataAnnotation | associated | |||
| PA36486 | TGFBR2 | Gene | DataAnnotation | associated | |||
| PA444880 | Marfan Syndrome | Disease | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37306888 | 2024 | A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus. | 1 |
| 38625590 | 2024 | Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome. | 0 |
| 38773466 | 2024 | Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes. | 0 |
| 37306888 | 2024 | A harmful MYH11 variant detected in a family with thoracic aortic dissection and patent ductus arteriosus. | 1 |
| 38625590 | 2024 | Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon-intestinal hypoperistalsis syndrome. | 0 |
| 38773466 | 2024 | Complex genotype-phenotype correlation of MYH11: new insights from monozygotic twins with highly variable expressivity and outcomes. | 0 |
| 34729648 | 2022 | Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection. | 4 |
| 35128634 | 2022 | TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event. | 2 |
| 36039018 | 2022 | Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia. | 0 |
| 36476886 | 2022 | [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive]. | 0 |
| 34729648 | 2022 | Association of gene polymorphisms in MYH11 and TGF-β signaling with the susceptibility and clinical outcomes of DeBakey type III aortic dissection. | 4 |
| 35128634 | 2022 | TET2 deficiency cooperates with CBFB-MYH11 to induce acute myeloid leukaemia and represents an early leukaemogenic event. | 2 |
| 36039018 | 2022 | Mutual exclusivity between the fusion gene CBFB::MYH11 and somatic mitochondrial mutations in acute myeloid leukaemia. | 0 |
| 36476886 | 2022 | [Molecular Genetic Characteristics of Acute Myeloid Leukemia Patients with CBFβ-MYH11 Positive]. | 0 |
| 32966694 | 2021 | Non-coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women. | 15 |
Citation
Jean-Loup Huret
MYH11 (myosin heavy chain) (incomplete)
Atlas Genet Cytogenet Oncol Haematol. 1999-06-01
Online version: http://atlasgeneticsoncology.org/gene/43/myh11
