MYOT (myotilin)

2009-06-01  

Identity

HGNC
MYOT
LOCATION
5q31.2
LOCUSID
9499
ALIAS
LGMD1,LGMD1A,MFM3,TTID,TTOD
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9499
MIM: 604103
HGNC: 12399
Ensembl: ENSG00000120729

Variants:

dbSNP: 9499
ClinVar: 9499
TCGA: ENSG00000120729
COSMIC: MYOT

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000120729ENST00000239926A0A0C4DFM5
ENSG00000120729ENST00000421631Q9UBF9
ENSG00000120729ENST00000515645B4DT68

Expression (GTEx)

0
100
200
300
400
500
600
700
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

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
367769212023Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.1
375112422023Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.2
375532492023A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.1
367769212023Silencing MYOT Expression May Inhibit Autophagy in Human Skeletal Muscle Cells.1
375112422023Human Mutated MYOT and CRYAB Genes Cause a Myopathic Phenotype in Zebrafish.2
375532492023A novel in-frame deletion in MYOT causes an early adult onset distal myopathy.1
286381182017Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.7
286381182017Conformational plasticity and evolutionary analysis of the myotilin tandem Ig domains.7
278542142016Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.3
278542142016Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.3
249281452014Novel recessive myotilin mutation causes severe myofibrillar myopathy.9
249281452014Novel recessive myotilin mutation causes severe myofibrillar myopathy.9
213618732011Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.10
213618732011Analysis of myotilin turnover provides mechanistic insight into the role of myotilinopathy-causing mutations.10
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

MYOT (myotilin)

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/gene/50939/myot-(myotilin)