MYH6 Gene

HGNC Family Myosins (MYH, MYO)
Name myosin, heavy chain 6, cardiac muscle, alpha
Description Cardiac muscle myosin is a hexamer consisting of two heavy chain subunits, two light chain subunits, and two regulatory subunits. This gene encodes the alpha heavy chain subunit of cardiac myosin. The gene is located approximately 4kb downstream of the gene encoding the beta heavy chain subunit of cardiac myosin. Mutations in this gene cause familial hypertrophic cardiomyopathy and atrial septal defect 3. [provided by RefSeq, Feb 2017]
Summary
{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nMYH6 encodes the fast α‐myosin heavy chain—a fundamental molecular motor of the cardiac sarcomere—that is essential for proper cardiac morphogenesis and structural integrity. Mutations and rare variants in MYH6 have been robustly linked to a spectrum of congenital heart defects, including atrial septal defect, hypoplastic left heart syndrome, patent ductus arteriosus, and tetralogy of Fallot. Disruptions in MYH6 due to inherited or de novo mutations have been shown to impair myofibril assembly and disturb the interaction of its motor domain with regulatory proteins, thereby causing aberrant septation and chamber formation with adverse clinical outcomes."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "9"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nBeyond its developmental role, MYH6 is a critical determinant of cardiac contractility and electrophysiological homeostasis. The α‐myosin heavy chain produced by MYH6 contributes directly to sarcomere dynamics and force generation, operating in a calcium‐independent manner that has been harnessed in gene transfer strategies to enhance contractile performance in failing myocytes. Furthermore, molecular and in vitro studies have demonstrated that specific missense mutations in MYH6 can modulate myofibril formation and force production, while population‐based genetic analyses have identified MYH6 variants associated with sick sinus syndrome, altered resting heart rate, and atrial fibrillation—highlighting its pivotal role in the conduction system."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "10", "end_ref": "18"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nMYH6 expression is tightly regulated through both transcriptional and post‐translational mechanisms that are critical for its cardiac‐restricted activity. Sequence elements in its promoter region and the binding of specific regulatory proteins ensure proper spatial and temporal transcription, while recent studies have revealed novel post‐translational modifications such as lactylation that modulate its interaction with titin and affect sarcomeric stability in heart failure. In parallel, loss of T‐cell tolerance to MYH6 epitopes has been implicated in autoimmune myocarditis, and altered MYH6 levels have emerged as potential biomarkers for sudden unexplained death. Intriguingly, emerging evidence also suggests that MYH6 may participate in non‐cardiac processes—for example, acting as a tumor suppressor in prostate cancer—underscoring the broad biological significance of this gene."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "19", "end_ref": "28"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Sheng Chih Jin, Jason Homsy, Samir Zaidi, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.3970"}], "href": "https://doi.org/10.1038/ng.3970"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28991257"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28991257"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yung-Hao Ching, Tushar K Ghosh, Steve J Cross, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mutation in myosin heavy chain 6 causes atrial septal defect."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng1526"}], "href": "https://doi.org/10.1038/ng1526"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15735645"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15735645"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Javier T Granados-Riveron, Tushar K Ghosh, Mark Pope, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddq315"}], "href": "https://doi.org/10.1093/hmg/ddq315"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20656787"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20656787"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Maximilian G Posch, Stephan Waldmuller, Melanie Müller, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0028872"}], "href": "https://doi.org/10.1371/journal.pone.0028872"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22194935"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22194935"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Aoy Tomita-Mitchell, Karl D Stamm, Donna K Mahnke, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impact of MYH6 variants in hypoplastic left heart syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Physiol Genomics (2016)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1152/physiolgenomics.00091.2016"}], "href": "https://doi.org/10.1152/physiolgenomics.00091.2016"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "27789736"}], "href": "https://pubmed.ncbi.nlm.nih.gov/27789736"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Yong Liu, Yu Cao, Yaxiong Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel Genetic Variants of Sporadic Atrial Septal Defect (ASD) in a Chinese Population Identified by Whole-Exome Sequencing (WES)."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Med Sci Monit (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.12659/msm.908923"}], "href": "https://doi.org/10.12659/msm.908923"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29505555"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29505555"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Ji-Yang Zuo, Huan-Xin Chen, Zhi-Gang Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Med Genomics (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12920-022-01365-y"}], "href": "https://doi.org/10.1186/s12920-022-01365-y"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "36209093"}], "href": "https://pubmed.ncbi.nlm.nih.gov/36209093"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Shufang Huang, Yueheng Wu, Shaoxian Chen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Med Genet (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ejmg.2021.104314"}], "href": "https://doi.org/10.1016/j.ejmg.2021.104314"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34481090"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34481090"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Ji-Yang Zuo, Huan-Xin Chen, Qin Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Tetralogy of Fallot: variants of MYH6 gene promoter and cellular functional analyses."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Pediatr Res (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41390-023-02955-x"}], "href": "https://doi.org/10.1038/s41390-023-02955-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38135727"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38135727"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Hilma Holm, Daniel F Gudbjartsson, Patrick Sulem, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A rare variant in MYH6 is associated with high risk of sick sinus syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.781"}], "href": "https://doi.org/10.1038/ng.781"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21378987"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21378987"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Elisa Carniel, Matthew R G Taylor, Gianfranco Sinagra, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circulation (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCULATIONAHA.104.507699"}], "href": "https://doi.org/10.1161/CIRCULATIONAHA.104.507699"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15998695"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15998695"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Huijuan Lv, Evis Havari, Sheena Pinto, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Impaired thymic tolerance to α-myosin directs autoimmunity to the heart in mice and humans."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Clin Invest (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1172/JCI44583"}], "href": "https://doi.org/10.1172/JCI44583"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21436590"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21436590"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Mark Eijgelsheim, Christopher Newton-Cheh, Nona Sotoodehnia, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Genome-wide association analysis identifies multiple loci related to resting heart rate."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddq303"}], "href": "https://doi.org/10.1093/hmg/ddq303"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20639392"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20639392"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Tural Aksel, Elizabeth Choe Yu, Shirley Sutton, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ensemble force changes that result from human cardiac myosin mutations and a small-molecule effector."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Rep (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.celrep.2015.04.006"}], "href": "https://doi.org/10.1016/j.celrep.2015.04.006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25937279"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25937279"}]}, {"type": "r", "ref": 15, "children": [{"type": "t", "text": "Todd J Herron, Eric Devaney, Lakshmi Mundada, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Ca2+-independent positive molecular inotropy for failing rabbit and human cardiac muscle by alpha-myosin motor gene transfer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "FASEB J (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1096/fj.09-140566"}], "href": "https://doi.org/10.1096/fj.09-140566"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19801488"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19801488"}]}, {"type": "r", "ref": 16, "children": [{"type": "t", "text": "Minghui Li, Wenjun Zheng "}, {"type": "b", "children": [{"type": "t", "text": "All-atom molecular dynamics simulations of actin-myosin interactions: a comparative study of cardiac α myosin, β myosin, and fast skeletal muscle myosin."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biochemistry (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1021/bi4006896"}], "href": "https://doi.org/10.1021/bi4006896"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24224850"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24224850"}]}, {"type": "r", "ref": 17, "children": [{"type": "t", "text": "Matthew Klos, Lakshmi Mundada, Indroneal Banerjee, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Altered myocyte contractility and calcium homeostasis in alpha-myosin heavy chain point mutations linked to familial dilated cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arch Biochem Biophys (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.abb.2016.12.007"}], "href": "https://doi.org/10.1016/j.abb.2016.12.007"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28088328"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28088328"}]}, {"type": "r", "ref": 18, "children": [{"type": "t", "text": "Ting Fu, Mengyan Chen, Lei Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Association of the "}, {"type": "a", "children": [{"type": "t", "text": "i"}], "href": "i"}, {"type": "t", "text": "MYH6"}, {"type": "a", "children": [{"type": "t", "text": "/i"}], "href": "/i"}, {"type": "t", "text": " Gene Polymorphism with the Risk of Atrial Fibrillation and Warfarin Anticoagulation Therapy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Genet Test Mol Biomarkers (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1089/gtmb.2021.0025"}], "href": "https://doi.org/10.1089/gtmb.2021.0025"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34515533"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34515533"}]}, {"type": "r", "ref": 19, "children": [{"type": "t", "text": "Madhu Gupta, Viranuj Sueblinvong, Jai Raman, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Single-stranded DNA-binding proteins PURalpha and PURbeta bind to a purine-rich negative regulatory element of the alpha-myosin heavy chain gene and control transcriptional and translational regulation of the gene expression. Implications in the repression of alpha-myosin heavy chain during heart failure."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2003)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M307696200"}], "href": "https://doi.org/10.1074/jbc.M307696200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "12933792"}], "href": "https://pubmed.ncbi.nlm.nih.gov/12933792"}]}, {"type": "r", "ref": 20, "children": [{"type": "t", "text": "Taisuke Ishikawa, Chuanchau J Jou, Akihiko Nogami, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Novel mutation in the α-myosin heavy chain gene is associated with sick sinus syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Circ Arrhythm Electrophysiol (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/CIRCEP.114.002534"}], "href": "https://doi.org/10.1161/CIRCEP.114.002534"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25717017"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25717017"}]}, {"type": "r", "ref": 21, "children": [{"type": "t", "text": "Ehsan Razmara, Masoud Garshasbi "}, {"type": "b", "children": [{"type": "t", "text": "Whole-exome sequencing identifies R1279X of MYH6 gene to be associated with congenital heart disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cardiovasc Disord (2018)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12872-018-0867-4"}], "href": "https://doi.org/10.1186/s12872-018-0867-4"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "29969989"}], "href": "https://pubmed.ncbi.nlm.nih.gov/29969989"}]}, {"type": "r", "ref": 22, "children": [{"type": "t", "text": "Lauren E Parker, Andrew P Landstrom "}, {"type": "b", "children": [{"type": "t", "text": "Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Am Heart Assoc (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1161/JAHA.120.019006"}], "href": "https://doi.org/10.1161/JAHA.120.019006"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "33432820"}], "href": "https://pubmed.ncbi.nlm.nih.gov/33432820"}]}, {"type": "r", "ref": 23, "children": [{"type": "t", "text": "Ji-Yang Zuo, Huan-Xin Chen, Qin Yang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Hum Mol Genet (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/hmg/ddae021"}], "href": "https://doi.org/10.1093/hmg/ddae021"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38340456"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38340456"}]}, {"type": "r", "ref": 24, "children": [{"type": "t", "text": "Jian-Hong Chen, Lei-Li Wang, Lin Tao, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Cell Mol Med (2021)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1111/jcmm.17015"}], "href": "https://doi.org/10.1111/jcmm.17015"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "34697898"}], "href": "https://pubmed.ncbi.nlm.nih.gov/34697898"}]}, {"type": "r", "ref": 25, "children": [{"type": "t", "text": "Naijin Zhang, Ying Zhang, Jiaqi Xu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "α-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell Res (2023)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41422-023-00844-w"}], "href": "https://doi.org/10.1038/s41422-023-00844-w"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "37443257"}], "href": "https://pubmed.ncbi.nlm.nih.gov/37443257"}]}, {"type": "r", "ref": 26, "children": [{"type": "t", "text": "M Emrah Şelli, Anita C Thomas, David C Wraith, et al. "}, {"type": "b", "children": [{"type": "t", "text": "A humanized HLA-DR4 mouse model for autoimmune myocarditis."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Mol Cell Cardiol (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.yjmcc.2017.04.003"}], "href": "https://doi.org/10.1016/j.yjmcc.2017.04.003"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28431892"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28431892"}]}, {"type": "r", "ref": 27, "children": [{"type": "t", "text": "Ziyan Song, Wensi Bian, Junyi Lin, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Heart proteomic profiling discovers MYH6 and COX5B as biomarkers for sudden unexplained death."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Forensic Sci Int (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.forsciint.2024.112121"}], "href": "https://doi.org/10.1016/j.forsciint.2024.112121"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "38971138"}], "href": "https://pubmed.ncbi.nlm.nih.gov/38971138"}]}, {"type": "r", "ref": 28, "children": [{"type": "t", "text": "Fei Wang, Hua Shen, Kai Li, et al. "}, {"type": "b", "children": [{"type": "t", "text": "MYH6 suppresses tumor progression by downregulating KIT expression in human prostate cancer."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Sci Rep (2024)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/s41598-024-70665-3"}], "href": "https://doi.org/10.1038/s41598-024-70665-3"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "39181964"}], "href": "https://pubmed.ncbi.nlm.nih.gov/39181964"}]}]}]}
Synonyms MYHCA, SSS3, CMH14, ASD3, ALPHA-MHC, MYHC, CMD1EE
Proteins MYH6_HUMAN
NCBI Gene ID 4624
API
Download Associations
Predicted Functions View MYH6's ARCHS4 Predicted Functions.
Co-expressed Genes View MYH6's ARCHS4 Predicted Functions.
Expression in Tissues and Cell Lines View MYH6's ARCHS4 Predicted Functions.

Functional Associations

MYH6 has 5,620 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, disease, phenotype or trait, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 118 datasets.

Click the + buttons to view associations for MYH6 from the datasets below.

If available, associations are ranked by standardized value

Dataset Summary
Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles tissue samples with high or low expression of MYH6 gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray tissue samples with high or low expression of MYH6 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles tissues with high or low expression of MYH6 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
BioGPS Cell Line Gene Expression Profiles cell lines with high or low expression of MYH6 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
BioGPS Human Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of MYH6 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
BioGPS Mouse Cell Type and Tissue Gene Expression Profiles cell types and tissues with high or low expression of MYH6 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
Carcinogenome Chemical Perturbation Carcinogenicity Signatures small molecule perturbations changing expression of MYH6 gene from the Carcinogenome Chemical Perturbation Carcinogenicity Signatures dataset.
CCLE Cell Line Gene CNV Profiles cell lines with high or low copy number of MYH6 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
CCLE Cell Line Gene Expression Profiles cell lines with high or low expression of MYH6 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
CellMarker Gene-Cell Type Associations cell types associated with MYH6 gene from the CellMarker Gene-Cell Type Associations dataset.
ChEA Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of MYH6 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
ChEA Transcription Factor Targets transcription factors binding the promoter of MYH6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
ChEA Transcription Factor Targets 2022 transcription factors binding the promoter of MYH6 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
ClinVar Gene-Phenotype Associations phenotypes associated with MYH6 gene from the curated ClinVar Gene-Phenotype Associations dataset.
ClinVar Gene-Phenotype Associations 2025 phenotypes associated with MYH6 gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
CMAP Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of MYH6 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores cellular components containing MYH6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
COMPARTMENTS Curated Protein Localization Evidence Scores 2025 cellular components containing MYH6 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores cellular components containing MYH6 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores dataset.
COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 cellular components containing MYH6 protein in low- or high-throughput protein localization assays from the COMPARTMENTS Experimental Protein Localization Evidence Scores 2025 dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores cellular components co-occuring with MYH6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 cellular components co-occuring with MYH6 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
COSMIC Cell Line Gene CNV Profiles cell lines with high or low copy number of MYH6 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
COSMIC Cell Line Gene Mutation Profiles cell lines with MYH6 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
CTD Gene-Chemical Interactions chemicals interacting with MYH6 gene/protein from the curated CTD Gene-Chemical Interactions dataset.
CTD Gene-Disease Associations diseases associated with MYH6 gene/protein from the curated CTD Gene-Disease Associations dataset.
dbGAP Gene-Trait Associations traits associated with MYH6 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
DeepCoverMOA Drug Mechanisms of Action small molecule perturbations with high or low expression of MYH6 protein relative to other small molecule perturbations from the DeepCoverMOA Drug Mechanisms of Action dataset.
DepMap CRISPR Gene Dependency cell lines with fitness changed by MYH6 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
DISEASES Curated Gene-Disease Association Evidence Scores diseases involving MYH6 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
DISEASES Curated Gene-Disease Association Evidence Scores 2025 diseases involving MYH6 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores diseases associated with MYH6 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
DISEASES Experimental Gene-Disease Association Evidence Scores 2025 diseases associated with MYH6 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores diseases co-occuring with MYH6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
DISEASES Text-mining Gene-Disease Association Evidence Scores 2025 diseases co-occuring with MYH6 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
DisGeNET Gene-Disease Associations diseases associated with MYH6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
DisGeNET Gene-Phenotype Associations phenotypes associated with MYH6 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
ENCODE Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at MYH6 gene from the ENCODE Histone Modification Site Profiles dataset.
ENCODE Transcription Factor Binding Site Profiles transcription factor binding site profiles with transcription factor binding evidence at the promoter of MYH6 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
ENCODE Transcription Factor Targets transcription factors binding the promoter of MYH6 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
ESCAPE Omics Signatures of Genes and Proteins for Stem Cells PubMedIDs of publications reporting gene signatures containing MYH6 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
GAD Gene-Disease Associations diseases associated with MYH6 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
GAD High Level Gene-Disease Associations diseases associated with MYH6 gene in GWAS and other genetic association datasets from the GAD High Level Gene-Disease Associations dataset.
GDSC Cell Line Gene Expression Profiles cell lines with high or low expression of MYH6 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
GeneRIF Biological Term Annotations biological terms co-occuring with MYH6 gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.
GeneSigDB Published Gene Signatures PubMedIDs of publications reporting gene signatures containing MYH6 from the GeneSigDB Published Gene Signatures dataset.
GEO Signatures of Differentially Expressed Genes for Diseases disease perturbations changing expression of MYH6 gene from the GEO Signatures of Differentially Expressed Genes for Diseases dataset.
GEO Signatures of Differentially Expressed Genes for Kinase Perturbations kinase perturbations changing expression of MYH6 gene from the GEO Signatures of Differentially Expressed Genes for Kinase Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Small Molecules small molecule perturbations changing expression of MYH6 gene from the GEO Signatures of Differentially Expressed Genes for Small Molecules dataset.
GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations transcription factor perturbations changing expression of MYH6 gene from the GEO Signatures of Differentially Expressed Genes for Transcription Factor Perturbations dataset.
GEO Signatures of Differentially Expressed Genes for Viral Infections virus perturbations changing expression of MYH6 gene from the GEO Signatures of Differentially Expressed Genes for Viral Infections dataset.
GO Biological Process Annotations 2015 biological processes involving MYH6 gene from the curated GO Biological Process Annotations 2015 dataset.
GO Biological Process Annotations 2023 biological processes involving MYH6 gene from the curated GO Biological Process Annotations 2023 dataset.
GO Biological Process Annotations 2025 biological processes involving MYH6 gene from the curated GO Biological Process Annotations2025 dataset.
GO Cellular Component Annotations 2015 cellular components containing MYH6 protein from the curated GO Cellular Component Annotations 2015 dataset.
GO Cellular Component Annotations 2023 cellular components containing MYH6 protein from the curated GO Cellular Component Annotations 2023 dataset.
GO Cellular Component Annotations 2025 cellular components containing MYH6 protein from the curated GO Cellular Component Annotations 2025 dataset.
GO Molecular Function Annotations 2015 molecular functions performed by MYH6 gene from the curated GO Molecular Function Annotations 2015 dataset.
GO Molecular Function Annotations 2023 molecular functions performed by MYH6 gene from the curated GO Molecular Function Annotations 2023 dataset.
GO Molecular Function Annotations 2025 molecular functions performed by MYH6 gene from the curated GO Molecular Function Annotations 2025 dataset.
GTEx Tissue Gene Expression Profiles tissues with high or low expression of MYH6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles dataset.
GTEx Tissue Gene Expression Profiles 2023 tissues with high or low expression of MYH6 gene relative to other tissues from the GTEx Tissue Gene Expression Profiles 2023 dataset.
GTEx Tissue Sample Gene Expression Profiles tissue samples with high or low expression of MYH6 gene relative to other tissue samples from the GTEx Tissue Sample Gene Expression Profiles dataset.
GWAS Catalog SNP-Phenotype Associations phenotypes associated with MYH6 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations dataset.
GWAS Catalog SNP-Phenotype Associations 2025 phenotypes associated with MYH6 gene in GWAS datasets from the GWAS Catalog SNP-Phenotype Associations 2025 dataset.
GWASdb SNP-Disease Associations diseases associated with MYH6 gene in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.
GWASdb SNP-Phenotype Associations phenotypes associated with MYH6 gene in GWAS datasets from the GWASdb SNP-Phenotype Associations dataset.
Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles cell lines with high or low expression of MYH6 gene relative to other cell lines from the Heiser et al., PNAS, 2011 Cell Line Gene Expression Profiles dataset.
HPA Tissue Gene Expression Profiles tissues with high or low expression of MYH6 gene relative to other tissues from the HPA Tissue Gene Expression Profiles dataset.
HPA Tissue Protein Expression Profiles tissues with high or low expression of MYH6 protein relative to other tissues from the HPA Tissue Protein Expression Profiles dataset.
HPA Tissue Sample Gene Expression Profiles tissue samples with high or low expression of MYH6 gene relative to other tissue samples from the HPA Tissue Sample Gene Expression Profiles dataset.
HPM Cell Type and Tissue Protein Expression Profiles cell types and tissues with high or low expression of MYH6 protein relative to other cell types and tissues from the HPM Cell Type and Tissue Protein Expression Profiles dataset.
HPO Gene-Disease Associations phenotypes associated with MYH6 gene by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.
Hub Proteins Protein-Protein Interactions interacting hub proteins for MYH6 from the curated Hub Proteins Protein-Protein Interactions dataset.
HuBMAP Azimuth Cell Type Annotations cell types associated with MYH6 gene from the HuBMAP Azimuth Cell Type Annotations dataset.
HuGE Navigator Gene-Phenotype Associations phenotypes associated with MYH6 gene by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.
InterPro Predicted Protein Domain Annotations protein domains predicted for MYH6 protein from the InterPro Predicted Protein Domain Annotations dataset.
JASPAR Predicted Human Transcription Factor Targets 2025 transcription factors regulating expression of MYH6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Human Transcription Factor Targets dataset.
JASPAR Predicted Mouse Transcription Factor Targets 2025 transcription factors regulating expression of MYH6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Mouse Transcription Factor Targets 2025 dataset.
JASPAR Predicted Transcription Factor Targets transcription factors regulating expression of MYH6 gene predicted using known transcription factor binding site motifs from the JASPAR Predicted Transcription Factor Targets dataset.
KEGG Pathways pathways involving MYH6 protein from the KEGG Pathways dataset.
KEGG Pathways 2026 pathways involving MYH6 protein from the KEGG Pathways 2026 dataset.
Kinase Library Serine Threonine Kinome Atlas kinases that phosphorylate MYH6 protein from the Kinase Library Serine Threonine Atlas dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles cell lines with high or low copy number of MYH6 gene relative to other cell lines from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene CNV Profiles dataset.
Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles cell lines with MYH6 gene mutations from the Klijn et al., Nat. Biotechnol., 2015 Cell Line Gene Mutation Profiles dataset.
KnockTF Gene Expression Profiles with Transcription Factor Perturbations transcription factor perturbations changing expression of MYH6 gene from the KnockTF Gene Expression Profiles with Transcription Factor Perturbations dataset.
LINCS L1000 CMAP Chemical Perturbation Consensus Signatures small molecule perturbations changing expression of MYH6 gene from the LINCS L1000 CMAP Chemical Perturbations Consensus Signatures dataset.
LINCS L1000 CMAP CRISPR Knockout Consensus Signatures gene perturbations changing expression of MYH6 gene from the LINCS L1000 CMAP CRISPR Knockout Consensus Signatures dataset.
LOCATE Curated Protein Localization Annotations cellular components containing MYH6 protein in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.
LOCATE Predicted Protein Localization Annotations cellular components predicted to contain MYH6 protein from the LOCATE Predicted Protein Localization Annotations dataset.
MGI Mouse Phenotype Associations 2023 phenotypes of transgenic mice caused by MYH6 gene mutations from the MGI Mouse Phenotype Associations 2023 dataset.
MotifMap Predicted Transcription Factor Targets transcription factors regulating expression of MYH6 gene predicted using known transcription factor binding site motifs from the MotifMap Predicted Transcription Factor Targets dataset.
MPO Gene-Phenotype Associations phenotypes of transgenic mice caused by MYH6 gene mutations from the MPO Gene-Phenotype Associations dataset.
MSigDB Cancer Gene Co-expression Modules co-expressed genes for MYH6 from the MSigDB Cancer Gene Co-expression Modules dataset.
MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations gene perturbations changing expression of MYH6 gene from the MSigDB Signatures of Differentially Expressed Genes for Cancer Gene Perturbations dataset.
NIBR DRUG-seq U2OS MoA Box Gene Expression Profiles drug perturbations changing expression of MYH6 gene from the NIBR DRUG-seq U2OS MoA Box dataset.
NURSA Protein Complexes protein complexs containing MYH6 protein recovered by IP-MS from the NURSA Protein Complexes dataset.
OMIM Gene-Disease Associations phenotypes associated with MYH6 gene from the curated OMIM Gene-Disease Associations dataset.
PANTHER Pathways pathways involving MYH6 protein from the PANTHER Pathways dataset.
Pathway Commons Protein-Protein Interactions interacting proteins for MYH6 from the Pathway Commons Protein-Protein Interactions dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations gene perturbations changing expression of MYH6 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PerturbAtlas Signatures of Differentially Expressed Genes for Mouse Gene Perturbations gene perturbations changing expression of MYH6 gene from the PerturbAtlas Signatures of Differentially Expressed Genes for Gene Perturbations dataset.
PFOCR Pathway Figure Associations 2023 pathways involving MYH6 protein from the PFOCR Pathway Figure Associations 2023 dataset.
PFOCR Pathway Figure Associations 2024 pathways involving MYH6 protein from the Wikipathways PFOCR 2024 dataset.
Reactome Pathways 2014 pathways involving MYH6 protein from the Reactome Pathways dataset.
Reactome Pathways 2024 pathways involving MYH6 protein from the Reactome Pathways 2024 dataset.
Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles cell types and tissues with high or low DNA methylation of MYH6 gene relative to other cell types and tissues from the Roadmap Epigenomics Cell and Tissue DNA Methylation Profiles dataset.
Roadmap Epigenomics Histone Modification Site Profiles histone modification site profiles with high histone modification abundance at MYH6 gene from the Roadmap Epigenomics Histone Modification Site Profiles dataset.
RummaGEO Drug Perturbation Signatures drug perturbations changing expression of MYH6 gene from the RummaGEO Drug Perturbation Signatures dataset.
RummaGEO Gene Perturbation Signatures gene perturbations changing expression of MYH6 gene from the RummaGEO Gene Perturbation Signatures dataset.
TargetScan Predicted Nonconserved microRNA Targets microRNAs regulating expression of MYH6 gene predicted using nonconserved miRNA seed sequences from the TargetScan Predicted Nonconserved microRNA Targets dataset.
TCGA Signatures of Differentially Expressed Genes for Tumors tissue samples with high or low expression of MYH6 gene relative to other tissue samples from the TCGA Signatures of Differentially Expressed Genes for Tumors dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores tissues with high expression of MYH6 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores dataset.
TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 tissues with high expression of MYH6 protein in proteomics datasets from the TISSUES Experimental Tissue Protein Expression Evidence Scores 2025 dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores tissues co-occuring with MYH6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores dataset.
TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 tissues co-occuring with MYH6 protein in abstracts of biomedical publications from the TISSUES Text-mining Tissue Protein Expression Evidence Scores 2025 dataset.
WikiPathways Pathways 2014 pathways involving MYH6 protein from the Wikipathways Pathways 2014 dataset.
WikiPathways Pathways 2024 pathways involving MYH6 protein from the WikiPathways Pathways 2024 dataset.