Mus musculus Gene: Myof
Summary
InnateDB Gene IDBG-162078.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol Myof
Gene Name myoferlin
Synonyms
Species Mus musculus
Ensembl Gene ENSMUSG00000048612
Encoded Proteins
myoferlin
myoferlin
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
Summary This gene does not have any Entrez summary - the following is the summary from its human ortholog ENSG00000138119:
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 19:37899036-38043577
Strand Reverse strand
Band C2
Transcripts
ENSMUST00000041475 ENSMUSP00000045036
ENSMUST00000172095 ENSMUSP00000129792
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
They are also associated with 9 interaction(s) predicted by orthology.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Predicted by orthology
Total 9 [view]
Gene Ontology

Molecular Function
Accession GO Term
GO:0005515 protein binding
GO:0005543 phospholipid binding
Biological Process
GO:0001778 plasma membrane repair
GO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway
GO:0034605 cellular response to heat
Cellular Component
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
Homo sapiens
Bos taurus
Gene ID
Gene Order
Not yet available
Pathway Predictions based on Human Orthology Data
NETPATH
REACTOME
KEGG
INOH
PID NCI
Signaling events mediated by VEGFR1 and VEGFR2
Cross-References
SwissProt
TrEMBL
UniProt Splice Variant
Entrez Gene
UniGene Mm.34674
RefSeq NM_001099634
OMIM
CCDS CCDS37970
HPRD
IMGT
MGI ID
MGI Symbol
EMBL
GenPept
RNA Seq Atlas