MYH6 (myosin heavy chain 6)

2008-10-01  

Identity

HGNC
LOCATION
14q11.2
LOCUSID
ALIAS
ASD3,CMD1EE,CMH14,MYHC,MYHCA,SSS3,alpha-MHC
FUSION GENES

Other Information

Locus ID:

NCBI: 4624
MIM: 160710
HGNC: 7576
Ensembl: ENSG00000197616

Variants:

dbSNP: 4624
ClinVar: 4624
TCGA: ENSG00000197616
COSMIC: MYH6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197616ENST00000405093P13533

Expression (GTEx)

0
500
1000
1500
2000
2500
3000
3500
4000
4500
5000

Pathways

PathwaySourceExternal ID
Cardiac muscle contractionKEGGhsa04260
Cardiac muscle contractionKEGGko04260
Hypertrophic cardiomyopathy (HCM)KEGGko05410
Hypertrophic cardiomyopathy (HCM)KEGGhsa05410
Dilated cardiomyopathyKEGGko05414
Dilated cardiomyopathyKEGGhsa05414
Viral myocarditisKEGGhsa05416
Adrenergic signaling in cardiomyocytesKEGGhsa04261
Adrenergic signaling in cardiomyocytesKEGGko04261
Thyroid hormone signaling pathwayKEGGhsa04919
Muscle contractionREACTOMER-HSA-397014
Striated Muscle ContractionREACTOMER-HSA-390522
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
213789872011A rare variant in MYH6 is associated with high risk of sick sinus syndrome.110
289912572017Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.109
202155912010Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.86
202155912010Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.86
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
159986952005Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.71
159986952005Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy.71
157356452005Mutation in myosin heavy chain 6 causes atrial septal defect.70
185119442008Long single alpha-helical tail domains bridge the gap between structure and function of myosin VI.65
206393922010Genome-wide association analysis identifies multiple loci related to resting heart rate.61

Citation

Dessen P

MYH6 (myosin heavy chain 6)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50391/myh6