MYH1 (myosin heavy chain 1)

2014-11-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
HEL71,MYHSA1,MYHa,MyHC-2X/D,MyHC-2x
FUSION GENES

Other Information

Locus ID:

NCBI: 4619
MIM: 160730
HGNC: 7567
Ensembl: ENSG00000109061

Variants:

dbSNP: 4619
ClinVar: 4619
TCGA: ENSG00000109061
COSMIC: MYH1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000109061ENST00000226207P12882

Expression (GTEx)

0
500
1000
1500
2000

Pathways

PathwaySourceExternal ID
Tight junctionKEGGko04530
Tight junctionKEGGhsa04530
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
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
164929212006Risk of colorectal cancer in monoallelic and biallelic carriers of MYH mutations: a population-based case-family study.38
173682382007Identification of MYH mutation carriers in colorectal cancer: a multicenter, case-control, population-based study.32
169295142006Germline mutations and polymorphic variants in MMR, E-cadherin and MYH genes associated with familial gastric cancer in Jiangsu of China.21
150348622004Role of inherited defects of MYH in the development of sporadic colorectal cancer.19
171966192007Decreased capillarization and a shift to fast myosin heavy chain IIx in the biceps brachii muscle from young adults with spastic paresis.13
195360922009Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.13
179492942007Similar colorectal cancer risk in patients with monoallelic and biallelic mutations in the MYH gene identified in a population with adenomatous polyposis.11
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
223374922012Myosin heavy chain composition of the human genioglossus muscle.9

Citation

Dessen P

MYH1 (myosin heavy chain 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70606/myh1