MYOF (myoferlin)

2003-12-01  

Identity

HGNC
LOCATION
10q23.33
LOCUSID
ALIAS
FER1L3
FUSION GENES

Other Information

Locus ID:

NCBI: 26509
MIM: 604603
HGNC: 3656
Ensembl: ENSG00000138119

Variants:

dbSNP: 26509
ClinVar: 26509
TCGA: ENSG00000138119
COSMIC: MYOF

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000138119ENST00000358334Q9NZM1
ENSG00000138119ENST00000359263Q9NZM1
ENSG00000138119ENST00000371488Q9NZM1
ENSG00000138119ENST00000371489Q9NZM1
ENSG00000138119ENST00000463743H0YD14

Expression (GTEx)

0
50
100
150
200
250

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
185027642008The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion.56
177027442007Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function.42
221354662011Mechanistic modeling of the effects of myoferlin on tumor cell invasion.40
194942352009Myoferlin is critical for endocytosis in endothelial cells.39
227618932012Myoferlin depletion in breast cancer cells promotes mesenchymal to epithelial shape change and stalls invasion.25
238643272013Myoferlin is a key regulator of EGFR activity in breast cancer.25
263114112016Myoferlin plays a key role in VEGFA secretion and impacts tumor-associated angiogenesis in human pancreas cancer.23

Citation

Dessen P

MYOF (myoferlin)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

Online version: http://atlasgeneticsoncology.org/gene/40545/myof