MYH2 (myosin heavy chain 2)

2008-10-01  

Identity

HGNC
MYH2
LOCATION
17p13.1
LOCUSID
4620
ALIAS
IBM3,MYH2A,MYHSA2,MYHas8,MYPOP,MyHC-2A,MyHC-IIa
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 4620
MIM: 160740
HGNC: 7572
Ensembl: ENSG00000125414

Variants:

dbSNP: 4620
ClinVar: 4620
TCGA: ENSG00000125414
COSMIC: MYH2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000125414ENST00000245503Q9UKX2
ENSG00000125414ENST00000397183Q9UKX2
ENSG00000125414ENST00000420805E7EX84
ENSG00000125414ENST00000532183Q9UKX2
ENSG00000125414ENST00000578017J3QLR0
ENSG00000125414ENST00000622564Q9UKX2

Expression (GTEx)

0
500
1000
1500
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
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Fcgamma receptor (FCGR) dependent phagocytosisREACTOMER-HSA-2029480
Regulation of actin dynamics for phagocytic cup formationREACTOMER-HSA-2029482
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
184958662008The role of myosin II in glioma invasion of the brain.130
233610032013Interplay between myosin IIA-mediated contractility and actin network integrity orchestrates podosome composition and oscillations.44
271608992016Confinement Sensing and Signal Optimization via Piezo1/PKA and Myosin II Pathways.36
122351572002Intracellular calcium and myosin isoform transitions. Calcineurin and calcium-calmodulin kinase pathways regulate preferential activation of the IIa myosin heavy chain promoter.22
229600222012Association of smooth muscle cell phenotypes with extracellular matrix disorders in thoracic aortic dissection.22
211025032011Temporal spatial expression and function of non-muscle myosin II isoforms IIA and IIB in scar remodeling.14
118892432002Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age.13
204185302010Human disease caused by loss of fast IIa myosin heavy chain due to recessive MYH2 mutations.13
241933432014Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.11
157419962005Mutations and sequence variation in the human myosin heavy chain IIa gene (MYH2).9

Citation

Dessen P

MYH2 (myosin heavy chain 2)

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/gene/50424/myh2