MYH6 (myosin heavy chain 6)

2008-10-01  

Identity

HGNC
MYH6
LOCATION
14q11.2
LOCUSID
4624
ALIAS
ASD3,CMD1EE,CMH14,MYHC,MYHCA,SSS3,alpha-MHC
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
383404562024Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses.0
383404562024Variants of the promoter of MYH6 gene in congenital isolated and sporadic patent ductus arteriosus: case-control study and cellular functional analyses.0
366942232023Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.2
374432572023α-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure.11
366942232023Identification of the prognostic value of Th1/Th2 ratio and a novel prognostic signature in basal-like breast cancer.2
374432572023α-myosin heavy chain lactylation maintains sarcomeric structure and function and alleviates the development of heart failure.11
362090932022Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects.1
362090932022Identification and functional analysis of variants of MYH6 gene promoter in isolated ventricular septal defects.1
334328202021Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.17
343842242021Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.1
344810902021Novel insertion mutation (Arg1822_Glu1823dup) in MYH6 coiled-coil domain causing familial atrial septal defect.3
345155332021Association of the MYH6 Gene Polymorphism with the Risk of Atrial Fibrillation and Warfarin Anticoagulation Therapy.1
346978982021Identification of MYH6 as the potential gene for human ischaemic cardiomyopathy.12
334328202021Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.17
343842242021Long-Read Sequence Confirmed a Large Deletion Including MYH6 and MYH7 in an Infant of Atrial Septal Defect and Atrial Arrhythmias.1

Citation

Dessen P

MYH6 (myosin heavy chain 6)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50391/myh6-(myosin-heavy-chain-6)