Gene:MYH11: Difference between revisions
| [unchecked revision] | [unchecked revision] |
Brian.Davis (talk | contribs) |
Brian.Davis (talk | contribs) No edit summary |
||
| Line 7: | Line 7: | ||
==Synonyms== | ==Synonyms== | ||
"myosin heavy chain 11", AAT4; FAA4; SMHC; SMMHC | |||
==Genomic Location== | ==Genomic Location== | ||
| Line 29: | Line 29: | ||
==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 chimeric transcript that encodes a protein consisting of the first 165 residues from the N terminus of core-binding factor beta in a fusion with the C-terminal portion of the smooth muscle myosin heavy chain. | |||
==Common Alteration Types== | ==Common Alteration Types== | ||
| Line 54: | Line 54: | ||
EXAMPLES | EXAMPLES | ||
'''[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://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information | '''[https://civicdb.org/events/genes/45/summary/variants/1300/summary ''TP53'' by CIViC]''' - general knowledge and evidence-based variant specific information | ||
'''[ | '''[https://pecan.stjude.cloud/proteinpaint/myh11 ''MYH11'' by St. Jude ProteinPaint]''' mutational landscape and matched expression data. | ||
'''[https:// | '''[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 | ||
'''[http:// | '''[http://oncokb.org/#/gene/myh11 ''MYH11'' by OncoKB]''' - mutational landscape, mutation effect, variant classification | ||
'''[ | '''[https://www.mycancergenome.org/content/gene/myh11/ ''TP53'' by My Cancer Genome]''' - brief gene overview | ||
'''[ | '''[http://www.uniprot.org/uniprot/P04637 ''myh11'' by UniProt]''' - protein and molecular structure and function | ||
'''[ | '''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information | ||
'''[http://www.genecards.org/cgi-bin/carddisp.pl?gene=myh11 ''TP53'' by GeneCards]''' - general gene information and summaries | |||
'''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information | '''[https://pfam.xfam.org/family/p53 ''TP53'' by Pfam]''' - gene and protein structure and function information | ||
'''[https://www.ncbi.nlm.nih.gov/gene/4629 MYH11 by NCBI Gene]''' - general gene information and summaries | |||
'''[https://www.ncbi.nlm.nih.gov/ | |||
==References== | ==References== | ||