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
382532962024A missense variant in MYOF is associated with ARVC and sudden cardiac death.0
383683702024Identification of myoferlin as a mitochondria-associated membranes component required for calcium signaling in PDAC cell lines.0
382532962024A missense variant in MYOF is associated with ARVC and sudden cardiac death.0
383683702024Identification of myoferlin as a mitochondria-associated membranes component required for calcium signaling in PDAC cell lines.0
368274612023HBZ upregulates myoferlin expression to facilitate HTLV-1 infection.2
374345852023Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.0
368274612023HBZ upregulates myoferlin expression to facilitate HTLV-1 infection.2
374345852023Tetraspanin CD82 Associates with Trafficking Vesicle in Muscle Cells and Binds to Dysferlin and Myoferlin.0
359845642022Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.3
359845642022Impairment of APPL1/Myoferlin facilitates adipogenic differentiation of mesenchymal stem cells by blocking autophagy flux in osteoporosis.3
336862532021Lysosomal retargeting of Myoferlin mitigates membrane stress to enable pancreatic cancer growth.27
349573012021Comprehensive Analysis of Myoferlin in Human Pancreatic Cancer via Bioinformatics.1
336862532021Lysosomal retargeting of Myoferlin mitigates membrane stress to enable pancreatic cancer growth.27
349573012021Comprehensive Analysis of Myoferlin in Human Pancreatic Cancer via Bioinformatics.1
318019732020PINCH-1 interacts with myoferlin to promote breast cancer progression and metastasis.9

Citation

Dessen P

MYOF (myoferlin)

Atlas Genet Cytogenet Oncol Haematol. 2003-12-01

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