Homo sapiens Gene: MYOF
Summary
InnateDB Gene IDBG-82667.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol MYOF
Gene Name myoferlin
Synonyms
Species Homo sapiens
Ensembl Gene ENSG00000138119
Encoded Proteins
myoferlin
myoferlin
myoferlin
myoferlin
myoferlin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary Mutations in dysferlin, a protein associated with the plasma membrane, can cause muscle weakness that affects both proximal and distal muscles. The protein encoded by this gene is a type II membrane protein that is structurally similar to dysferlin. It is a member of the ferlin family and associates with both plasma and nuclear membranes. The protein contains C2 domains that play a role in calcium-mediated membrane fusion events, suggesting that it may be involved in membrane regeneration and repair. Two transcript variants encoding different isoforms have been found for this gene. Other possible variants have been detected, but their full-length nature has not been determined. [provided by RefSeq, Dec 2008]
Gene Information
Type Protein coding
Genomic Location Chromosome 10:93306429-93482317
Strand Reverse strand
Band q23.33
Transcripts
ENST00000359263 ENSP00000352208
ENST00000358334 ENSP00000351094
ENST00000371489 ENSP00000360544
ENST00000371488 ENSP00000360543
ENST00000463743 ENSP00000432708
ENST00000474161
ENST00000485212
ENST00000475358
ENST00000488645
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 17 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated
Total 17 [view]
Protein-Protein 16 [view]
Protein-DNA 1 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 1 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005543 phospholipid binding
Biological Process
GO:0001778 plasma membrane repair
GO:0006936 muscle contraction
GO:0008015 blood circulation
GO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway
GO:0034605 cellular response to heat
Cellular Component
GO:0005635 nuclear envelope
GO:0005886 plasma membrane
GO:0005901 caveola
GO:0016021 integral component of membrane
GO:0030659 cytoplasmic vesicle membrane
GO:0031410 cytoplasmic vesicle
GO:0031965 nuclear membrane
GO:0043231 intracellular membrane-bounded organelle
GO:0070062 extracellular vesicular exosome
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
KEGG
INOH
PID BIOCARTA
PID NCI
Signaling events mediated by VEGFR1 and VEGFR2
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Hs.602086 Hs.715898
RefSeq NM_013451 NM_133337
HUGO
OMIM
CCDS CCDS41550 CCDS41551
HPRD 06857
IMGT
EMBL
GenPept
RNA Seq Atlas