MYF5 (myogenic factor 5)

2008-07-01  

Identity

HGNC
MYF5
LOCATION
12q21.31
LOCUSID
4617
ALIAS
EORVA,bHLHc2

Other Information

Locus ID:

NCBI: 4617
MIM: 159990
HGNC: 7565
Ensembl: ENSG00000111049

Variants:

dbSNP: 4617
ClinVar: 4617
TCGA: ENSG00000111049
COSMIC: MYF5

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000111049ENST00000228644P13349

Expression (GTEx)

0
1
2
3
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
Signaling pathways regulating pluripotency of stem cellsKEGGhsa04550
Signaling pathways regulating pluripotency of stem cellsKEGGko04550
Developmental BiologyREACTOMER-HSA-1266738
MyogenesisREACTOMER-HSA-525793
CDO in myogenesisREACTOMER-HSA-375170

References

Pubmed IDYearTitleCitations
389276342024Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.0
389276342024Identification of a Novel Frameshift Variant in MYF5 Leading to External Ophthalmoplegia with Rib and Vertebral Anomalies.0
298443452018SNAIL is a key regulator of alveolar rhabdomyosarcoma tumor growth and differentiation through repression of MYF5 and MYOD function.19
298872152018Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.10
298443452018SNAIL is a key regulator of alveolar rhabdomyosarcoma tumor growth and differentiation through repression of MYF5 and MYOD function.19
298872152018Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies.10
280809602017Myogenic regulatory transcription factors regulate growth in rhabdomyosarcoma.44
280809602017Myogenic regulatory transcription factors regulate growth in rhabdomyosarcoma.44
245950982014Pitx2c is reactivated in the failing myocardium and stimulates myf5 expression in cultured cardiomyocytes.7
245950982014Pitx2c is reactivated in the failing myocardium and stimulates myf5 expression in cultured cardiomyocytes.7
218100802011Efficient in vitro myogenic reprogramming of human primary mesenchymal stem cells and endothelial cells by Myf5.1
218100802011Efficient in vitro myogenic reprogramming of human primary mesenchymal stem cells and endothelial cells by Myf5.1
191920462009Altered binding of MYF-5 to FOXE1 promoter in non-syndromic and CHARGE-associated cleft palate.4
194532612009High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.23
198297082009DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation.41

Citation

Dessen P

MYF5 (myogenic factor 5)

Atlas Genet Cytogenet Oncol Haematol. 2008-07-01

Online version: http://atlasgeneticsoncology.org/gene/50169