MYH7B (myosin heavy chain 7B)

2014-11-01  

Identity

HGNC
MYH7B
LOCATION
20q11.22
LOCUSID
57644
ALIAS
MHC14,MYH14
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 57644
MIM: 609928
HGNC: 15906
Ensembl: ENSG00000078814

Variants:

dbSNP: 57644
ClinVar: 57644
TCGA: ENSG00000078814
COSMIC: MYH7B

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078814ENST00000262873A7E2Y1
ENSG00000078814ENST00000433934Q5JW47
ENSG00000078814ENST00000435272Q5JW49
ENSG00000078814ENST00000446156Q5JW48
ENSG00000078814ENST00000453028Q5JW46
ENSG00000078814ENST00000456649Q5JW45
ENSG00000078814ENST00000618182A0A087X0T3

Expression (GTEx)

0
10
20
30
40
50
60
70
80
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
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Translocation of GLUT4 to the plasma membraneREACTOMER-HSA-1445148

References

Pubmed IDYearTitleCitations
186340342009Common genetic variants in pre-microRNAs were associated with increased risk of breast cancer in Chinese women.130
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
201541442010Uncoupling of expression of an intronic microRNA and its myosin host gene by exon skipping.55
199486552010Two novel/ancient myosins in mammalian skeletal muscles: MYH14/7b and MYH15 are expressed in extraocular muscles and muscle spindles.48
205206192010Common genetic variants in pre-microRNAs and risk of gallbladder cancer in North Indian population.40
276669692016Myosin-7b Promotes Distal Tip Localization of the Intermicrovillar Adhesion Complex.13
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
238002892013Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy.10
202243052010Modest association of malignant melanoma with the rs910873 and rs1885120 markers on chromosome 20: a population-based study.1

Citation

Dessen P

MYH7B (myosin heavy chain 7B)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/70610/myh7b