MYH8 (myosin heavy chain 8)

2014-03-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
DA7,MyHC-peri,MyHC-pn,gtMHC-F

Other Information

Locus ID:

NCBI: 4626
MIM: 160741
HGNC: 7578
Ensembl: ENSG00000133020

Variants:

dbSNP: 4626
ClinVar: 4626
TCGA: ENSG00000133020
COSMIC: MYH8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133020ENST00000403437P13535

Expression (GTEx)

0
1
2
3
4

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

References

Pubmed IDYearTitleCitations
314303642020Truncation of MYH8 tail in AML: a novel prognostic marker with increase cell migration and epithelial-mesenchymal transition utilizing RAF/MAPK pathway.7
322328512020Novel exomic rare variants associated with venous thrombosis.9
323080572020Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis.1
314303642020Truncation of MYH8 tail in AML: a novel prognostic marker with increase cell migration and epithelial-mesenchymal transition utilizing RAF/MAPK pathway.7
322328512020Novel exomic rare variants associated with venous thrombosis.9
323080572020Novel MYH8 mutations in 152 Han Chinese samples with ovarian endometriosis.1
285085052018Rapid switch-off of the human myosin heavy chain IIX gene after heavy load muscle contractions is sustained for at least four days.4
285085052018Rapid switch-off of the human myosin heavy chain IIX gene after heavy load muscle contractions is sustained for at least four days.4
283773222017Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.2
283773222017Caution in interpretation of disease causality for heterozygous loss-of-function variants in the MYH8 gene associated with autosomal dominant disorder.2
203575872010Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.8
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
209495282010Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly.0
203575872010Evaluation of embryonic and perinatal myosin gene mutations and the etiology of congenital idiopathic clubfoot.8
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15

Citation

Dessen P

MYH8 (myosin heavy chain 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-03-01

Online version: http://atlasgeneticsoncology.org/gene/53848/myh8-(myosin-heavy-chain-8)