Difference between revisions of "MYH11"
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==Primary Author(s)*== | ==Primary Author(s)*== | ||
| − | + | Brian Davis PhD | |
__TOC__ | __TOC__ | ||
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==Synonyms== | ==Synonyms== | ||
| − | + | "myosin heavy chain 11", AAT4; FAA4; SMHC; SMMHC | |
| − | |||
| − | |||
==Genomic Location== | ==Genomic Location== | ||
| − | '''Cytoband:''' | + | '''Cytoband:''' 16p13.11 |
'''Genomic Coordinates:''' | '''Genomic Coordinates:''' | ||
| − | + | chr16:15,703,135-15,857,033(GRCh38/hg38) | |
| − | + | chr16:15,796,992-15,950,890(GRCh37/hg19) | |
| − | + | ==Cancer Category/Type== | |
| − | + | '''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]''' | |
| + | |||
| + | '''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_CBFB::MYH11_fusion Acute Myeloid Leukemia (AML) with 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)<ref>Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p132-134.</ref><ref>Post SM, et al., (2015). Biology of adult myelocytic leukemia and myelodysplasia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.</ref>. Either rearrangement leads to a CBFB-MYH11 fusion gene and may be an early event in the development of Acute Myeloid Leukemia (AML)<ref name=":0">{{Cite journal|last=Ja|first=Pulikkan|last2=Lh|first2=Castilla|date=2018|title=Preleukemia and Leukemia-Initiating Cell Activity in inv(16) Acute Myeloid Leukemia|url=https://pubmed.ncbi.nlm.nih.gov/29755956/|language=en|doi=10.3389/fonc.2018.00129|pmc=PMC5932169|pmid=29755956}}</ref>. | |
==Gene Overview== | ==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'')<ref name=":0" />. 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<ref name=":0" />. | |
==Common Alteration Types== | ==Common Alteration Types== | ||
| − | + | inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | |
| + | |||
| + | The CBFβ–MYH11 fusion gene encodes a protein that exerts a dominant negative function by binding to the transcription factor encoded by ''RUNX1''. The fusion protein encoded by CBFβ–MYH11 competes (10-fold increased binding affinity) with normal CBFbeta protein for free Runx1 protein, leading to lowered and altered transcription of myeloid genes normally controlled by the CBFbeta and Runx1 transcription factors<ref name=":0" />. | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
|- | |- | ||
| − | ! Copy Number Loss | + | !Copy Number Loss!!Copy Number Gain!!LOH!!Loss-of-Function Mutation!!Gain-of-Function Mutation!!Translocation/Fusion |
|- | |- | ||
| − | | | + | | || || || ||X||X |
|} | |} | ||
==Internal Pages== | ==Internal Pages== | ||
| − | + | '''[http://www.ccga.io/index.php/HAEM4:Acute_Myeloid_Leukemia_(AML)_and_Related_Precursor_Neoplasms Acute Myeloid Leukemia (AML) and Related Precursor Neoplasms]''' | |
| − | |||
| − | |||
| − | + | '''[http://www.ccga.io/index.php/HAEM5:Acute_myeloid_leukaemia_with_CBFB::MYH11_fusion Acute Myeloid Leukemia (AML) with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11]''' | |
| − | + | '''[http://www.ccga.io/index.php/CBFB CBFB]''' | |
| − | + | ==External Links== | |
| − | '''[http://atlasgeneticsoncology.org/Genes/ | + | '''[http://atlasgeneticsoncology.org//Genes/MYH11ID43.html ''MYH11'' by Atlas of Genetics and Cytogenetics in Oncology and Haematology]''' - detailed gene information |
| − | '''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln= | + | '''[https://cancer.sanger.ac.uk/cosmic/gene/analysis?ln=myh11 ''MYH11'' by COSMIC]''' - sequence information, expression, catalogue of mutations |
| − | '''[https:// | + | '''[https://pecan.stjude.cloud/proteinpaint/myh11 ''MYH11'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data. |
| − | '''[ | + | '''[https://pmkb.weill.cornell.edu/search?utf8=%E2%9C%93&search=myh11 ''MYH11'' by Precision Medicine Knowledgebase (Weill Cornell)]''' - manually vetted interpretations of variants and CNVs |
| − | '''[ | + | '''[http://www.cancerindex.org/geneweb/MYH11.htm ''MYH11'' by Cancer Index]''' - gene, pathway, publication information matched to cancer type |
| − | '''[https:// | + | '''[https://www.mycancergenome.org/content/gene/myh11/ ''MYH11'' by My Cancer Genome]''' - brief gene overview |
| − | '''[ | + | '''[https://www.uniprot.org/uniprot/P35749 ''MYH11'' by UniProt]''' - protein and molecular structure and function |
| − | '''[ | + | '''[https://pfam.xfam.org/protein/P35749 ''MYH11'' by Pfam]''' - gene and protein structure and function information |
| − | '''[ | + | '''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=myh11 ''MYH11'' by GeneCards]''' - general gene information and summaries |
| − | '''[ | + | '''[https://www.ncbi.nlm.nih.gov/gene/4629 MYH11 by NCBI Gene]''' - general gene information and summaries |
| − | '''[ | + | '''[http://www.omim.org/entry/160745 ''MYH11'' by OMIM]''' - compendium of human genes and genetic phenotypes |
| − | '''[ | + | '''[https://databases.lovd.nl/shared/genes/MYH11 ''MYH11'' by LOVD(3)]''' - Leiden Open Variation Database |
| − | '''[ | + | '''[http://www.unav.es/genetica/TICdb/results.php?hgnc=MYH11 ''MYH11'' by TICdb]''' - database of Translocation breakpoints In Cancer |
==References== | ==References== | ||
| + | <references /> | ||
| − | == | + | ==Notes== |
| − | + | <nowiki>*</nowiki>Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome. | |
| − | + | [[Category:Cancer Genes M]] | |
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Latest revision as of 14:36, 12 December 2023
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
Approximately 5-8% of AML cases have inv(16)(p13.1q22) or t(16;16)(p13.1;q22)[1][2]. Either rearrangement leads to a CBFB-MYH11 fusion gene and may be an early event in the development of Acute Myeloid Leukemia (AML)[3].
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)[3]. 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[3].
Common Alteration Types
inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11
The CBFβ–MYH11 fusion gene encodes a protein that exerts a dominant negative function by binding to the transcription factor encoded by RUNX1. The fusion protein encoded by CBFβ–MYH11 competes (10-fold increased binding affinity) with normal CBFbeta protein for free Runx1 protein, leading to lowered and altered transcription of myeloid genes normally controlled by the CBFbeta and Runx1 transcription factors[3].
| Copy Number Loss | Copy Number Gain | LOH | Loss-of-Function Mutation | Gain-of-Function Mutation | Translocation/Fusion |
|---|---|---|---|---|---|
| X | 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
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
MYH11 by OMIM - compendium of human genes and genetic phenotypes
MYH11 by LOVD(3) - Leiden Open Variation Database
MYH11 by TICdb - database of Translocation breakpoints In Cancer
References
- ↑ Arber DA, et al., (2017). Acute myeloid leukaemia with recurrent genetic abnormalities, in World Health Organization Classification of Tumours of Haematopoietic and Lymphoid Tissues, Revised 4th edition. Swerdlow SH, Campo E, Harris NL, Jaffe ES, Pileri SA, Stein H, Thiele J, Arber DA, Hasserjian RP, Le Beau MM, Orazi A, and Siebert R, Editors. IARC Press: Lyon, France, p132-134.
- ↑ Post SM, et al., (2015). Biology of adult myelocytic leukemia and myelodysplasia in The Molecular Basis of Cancer, 4th edition. Mendelsohn, J, Howley, PM, Israel, MA, Gray, JW, Thompson, CB. Editors. Elsevier Press: Philadelphia, USA, p395-406.
- ↑ 3.0 3.1 3.2 3.3 Ja, Pulikkan; et al. (2018). "Preleukemia and Leukemia-Initiating Cell Activity in inv(16) Acute Myeloid Leukemia". doi:10.3389/fonc.2018.00129. PMC 5932169. PMID 29755956.CS1 maint: PMC format (link)
Notes
*Primary authors will typically be those that initially create and complete the content of a page. If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the CCGA coordinators (contact information provided on the homepage). Additional global feedback or concerns are also welcome.