MYH11
Primary Author(s)*
Brian Davis PhD
Synonyms
"myosin heavy chain 11", AAT4; FAA4; SMHC; SMMHC
Genomic Location
Cytoband: 16p13.11
Genomic Coordinates:
chr16:15,703,135-15,857,033(GRCh38/hg38)
chr16:15,796,992-15,950,890(GRCh37/hg19)
Cancer Category/Type
Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms
Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
Approximately 5-8% of AML cases have inv(16)(p13.1q22) or t(16;16)(p13.1;q22) [1].
Gene Overview
The MYH11 gene encodes a smooth muscle myosin belonging to the myosin heavy chain family. The gene product is a subunit of a hexameric protein that consists of two heavy chain subunits and two pairs of non-identical light chain subunits. It functions as a major contractile protein, converting chemical energy into mechanical energy through the hydrolysis of ATP. The pericentric inversion of chromosome 16 [inv(16)(p13q22)] produces a protein bearing the first 165 residues from the N terminus of core-binding factor beta (CBFB) and the C-terminal portion of the smooth muscle myosin heavy chain (MYH11). The CBFβ–MYH11 fusion protein exerts a dominant negative function by increased binding to the transcription factor encoded by RUNX1, thereby competing for free Runx1 protein, and leading to lowered and altered transcription of myeloid genes [2].
Common Alteration Types
inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| X |
Internal Pages
Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms
Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
External Links
EXAMPLES
MYH11 by Atlas of Genetics and Cytogenetics in Oncology and Haematology - detailed gene information
MYH11 by COSMIC - sequence information, expression, catalogue of mutations
MYH11 by St. Jude ProteinPaint mutational landscape and matched expression data.
MYH11 by Precision Medicine Knowledgebase (Weill Cornell) - manually vetted interpretations of variants and CNVs
MYH11 by Cancer Index - gene, pathway, publication information matched to cancer type
MYH11 by My Cancer Genome - brief gene overview
MYH11 by UniProt - protein and molecular structure and function
MYH11 by Pfam - gene and protein structure and function information
MYH11 by GeneCards - general gene information and summaries
MYH11 by NCBI Gene - general gene information and summaries
References
EXAMPLE Book
1. Arber DA, et al., (2008). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Vardiman JW, Editors. IARC Press: Lyon, France, p117-118.
2. Pulikkan J.A. and Castilla L.H. (2018). Preleukemia and Leukemia-Initiating Cell Activity in inv(16) Acute Myeloid Leukemia. Front Oncol. 8: 129. PMID 29755956 DOI: 10.3389/fonc.2018.00129
Notes
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