MYH13 (myosin heavy chain 13)

2014-11-01  

Identity

HGNC
LOCATION
17p13.1
LOCUSID
ALIAS
MyHC-IIL,MyHC-eo
FUSION GENES

Other Information

Locus ID:

NCBI: 8735
MIM: 603487
HGNC: 7571
Ensembl: ENSG00000006788

Variants:

dbSNP: 8735
ClinVar: 8735
TCGA: ENSG00000006788
COSMIC: MYH13

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000006788ENST00000252172Q9UKX3
ENSG00000006788ENST00000418404Q9UKX3
ENSG00000006788ENST00000621918Q9UKX3

Expression (GTEx)

0
1
2

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

References

Pubmed IDYearTitleCitations
192400612009Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.75
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
188307242009Assessment of Alzheimer's disease case-control associations using family-based methods.21
214263022011Slow skeletal muscle myosin-binding protein-C (MyBPC1) mediates recruitment of muscle-type creatine kinase (CK) to myosin.16
121106532002Phylogenetic implications of the superfast myosin in extraocular muscles.8

Citation

Dessen P

MYH13 (myosin heavy chain 13)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70607/myh13