MYH3 (myosin heavy chain 3)

2014-03-01  

Identity

HGNC
MYH3
LOCATION
17p13.1
LOCUSID
4621
ALIAS
CPSFS1A,CPSFS1B,CPSKF1A,CPSKF1B,DA2A,DA2B,DA2B3,DA8,HEMHC,MYHC-EMB,MYHSE1,SMHCE
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4621
MIM: 160720
HGNC: 7573
Ensembl: ENSG00000109063

Variants:

dbSNP: 4621
ClinVar: 4621
TCGA: ENSG00000109063
COSMIC: MYH3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109063ENST00000583535P11055

Expression (GTEx)

0
5
10
15
20
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
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
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
384442782024Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).1
384442782024Functional assessment of a novel biallelic MYH3 variation causing CPSKF1B (contractures, pterygia, and spondylocarpotarsal fusion syndrome1B).1
372455382023METTL3 achieves lipopolysaccharide-induced myocardial injury via m(6)A-dependent stabilization of Myh3 mRNA.2
372455382023METTL3 achieves lipopolysaccharide-induced myocardial injury via m(6)A-dependent stabilization of Myh3 mRNA.2
317463832020Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.4
323153032020Mutations in the tail domain of MYH3 contributes to atrial septal defect.3
327677322020Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).5
329021382020Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.3
317463832020Identification of a novel pathogenic mutation of the MYH3 gene in a family with distal arthrogryposis type 2B.4
323153032020Mutations in the tail domain of MYH3 contributes to atrial septal defect.3
327677322020Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).5
329021382020Recessive MYH3 variants cause "Contractures, pterygia, and variable skeletal fusions syndrome 1B" mimicking Escobar variant multiple pterygium syndrome.3
310304302019[Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis].0
310304302019[Analysis of MYH3 gene variation and prenatal diagnosis for two pedigrees affected with congenital arthrogryposis].0
293145512018A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.10

Citation

Dessen P

MYH3 (myosin heavy chain 3)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53847