Free for academic non-profit institutions. Other users need a Commercial license

Aliases for MYOF Gene

Aliases for MYOF Gene

  • Myoferlin 2 3 5
  • Fer-1-Like Family Member 3 2 3
  • Fer-1-Like Protein 3 3 4
  • FER1L3 3 4
  • Fer-1 (C.Elegans)-Like 3 (Myoferlin) 2
  • Fer-1-Like 3, Myoferlin (C. Elegans) 2
  • Fer-1-Like 3, Myoferlin 3
  • KIAA1207 4

External Ids for MYOF Gene

Previous HGNC Symbols for MYOF Gene

  • FER1L3

Previous GeneCards Identifiers for MYOF Gene

  • GC10M095057
  • GC10M088693

Summaries for MYOF Gene

Entrez Gene Summary for MYOF Gene

  • 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]

GeneCards Summary for MYOF Gene

MYOF (Myoferlin) is a Protein Coding gene. Diseases associated with MYOF include miyoshi muscular dystrophy 1 and muscular dystrophy, limb-girdle, type 2b. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is FER1L6.

UniProtKB/Swiss-Prot for MYOF Gene

  • Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity).

Gene Wiki entry for MYOF Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOF Gene

Genomics for MYOF Gene

Regulatory Elements for MYOF Gene

Promoters for MYOF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around MYOF on UCSC Golden Path with GeneCards custom track

Genomic Location for MYOF Gene

Chromosome:
10
Start:
93,306,429 bp from pter
End:
93,482,486 bp from pter
Size:
176,058 bases
Orientation:
Minus strand

Genomic View for MYOF Gene

Genes around MYOF on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYOF Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYOF Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYOF Gene

Proteins for MYOF Gene

  • Protein details for MYOF Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NZM1-MYOF_HUMAN
    Recommended name:
    Myoferlin
    Protein Accession:
    Q9NZM1
    Secondary Accessions:
    • B3KQN5
    • Q5VWW2
    • Q5VWW3
    • Q5VWW4
    • Q5VWW5
    • Q7Z642
    • Q8IWH0
    • Q9HBU3
    • Q9NZM0
    • Q9ULL3
    • Q9Y4U4

    Protein attributes for MYOF Gene

    Size:
    2061 amino acids
    Molecular mass:
    234709 Da
    Cofactor:
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Quaternary structure:
    • Interacts with DNM2 and KDR. Interacts with EHD1 (By similarity). Interacts with EHD2; the interaction is direct. Interacts with FAM65B (PubMed:24687993).
    SequenceCaution:
    • Sequence=AAH40110.1; Type=Miscellaneous discrepancy; Note=Contaminating sequence. Potential poly-A sequence.; Evidence={ECO:0000305}; Sequence=BAG52097.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Three dimensional structures from OCA and Proteopedia for MYOF Gene

    Alternative splice isoforms for MYOF Gene

neXtProt entry for MYOF Gene

Proteomics data for MYOF Gene at MOPED

Post-translational modifications for MYOF Gene

  • Ubiquitination at Lys 102
  • Modification sites at PhosphoSitePlus

Other Protein References for MYOF Gene

No data available for DME Specific Peptides for MYOF Gene

Domains & Families for MYOF Gene

Gene Families for MYOF Gene

Suggested Antigen Peptide Sequences for MYOF Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q9NZM1

UniProtKB/Swiss-Prot:

MYOF_HUMAN :
  • The C2 domain 1 associates with lipid membranes in a calcium-dependent manner.
  • Belongs to the ferlin family.
Domain:
  • The C2 domain 1 associates with lipid membranes in a calcium-dependent manner.
  • Contains 5 C2 domains.
Family:
  • Belongs to the ferlin family.
genes like me logo Genes that share domains with MYOF: view

Function for MYOF Gene

Molecular function for MYOF Gene

GENATLAS Biochemistry:
myoferlin,expressed in skeletal muscle,heart,lung,located at nuclear and plasma membranes,highly homolog to dysferlin
UniProtKB/Swiss-Prot Function:
Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity).
genes like me logo Genes that share phenotypes with MYOF: view

Animal Models for MYOF Gene

MGI Knock Outs for MYOF:

Animal Model Products

miRNA for MYOF Gene

miRTarBase miRNAs that target MYOF

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for MYOF Gene

Localization for MYOF Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYOF Gene

Cell membrane; Single-pass type II membrane protein. Nucleus membrane; Single-pass type II membrane protein. Cytoplasmic vesicle membrane; Single-pass type II membrane protein. Note=Concentrated at the membrane sites of both myoblast-myoblast and myoblast-myotube fusions. Detected at the plasmalemma in endothelial cells lining intact blood vessels (By similarity). Found at nuclear and plasma membranes. Enriched in undifferentiated myoblasts near the plasma membrane in puncate structures. {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for MYOF Gene COMPARTMENTS Subcellular localization image for MYOF gene
Compartment Confidence
extracellular 5
nucleus 5
plasma membrane 5
cytosol 3
peroxisome 2
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for MYOF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005635 nuclear envelope TAS 10607832
GO:0005886 plasma membrane IDA --
GO:0031965 nuclear membrane IEA --
GO:0070062 extracellular exosome IDA 19056867
genes like me logo Genes that share ontologies with MYOF: view

Pathways & Interactions for MYOF Gene

SuperPathways for MYOF Gene

No Data Available

Gene Ontology (GO) - Biological Process for MYOF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006936 muscle contraction TAS 10607832
genes like me logo Genes that share ontologies with MYOF: view

No data available for Pathways by source and SIGNOR curated interactions for MYOF Gene

Drugs & Compounds for MYOF Gene

No Compound Related Data Available

Transcripts for MYOF Gene

Unigene Clusters for MYOF Gene

Myoferlin:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for MYOF Gene

No ASD Table

Relevant External Links for MYOF Gene

GeneLoc Exon Structure for
MYOF
ECgene alternative splicing isoforms for
MYOF

Expression for MYOF Gene

mRNA expression in normal human tissues for MYOF Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for MYOF Gene

This gene is overexpressed in Breast (15.3) and Nasal epithelium (10.6).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MOPED, and MaxQB for MYOF Gene



SOURCE GeneReport for Unigene cluster for MYOF Gene Hs.602086

mRNA Expression by UniProt/SwissProt for MYOF Gene

Q9NZM1-MYOF_HUMAN
Tissue specificity: Expressed in myoblast and endothelial cells (at protein level). Highly expressed in cardiac and skeletal muscles. Also present in lung, and at very low levels in kidney, placenta and brain.
genes like me logo Genes that share expression patterns with MYOF: view

Protein tissue co-expression partners for MYOF Gene

- Elite partner

Primer Products

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for MYOF Gene

Orthologs for MYOF Gene

This gene was present in the common ancestor of animals.

Orthologs for MYOF Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia MYOF 35
  • 90.62 (n)
  • 93.69 (a)
MYOF 36
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia MYOF 35
  • 91.25 (n)
  • 94.81 (a)
MYOF 36
  • 95 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Myof 35
  • 88.57 (n)
  • 93.99 (a)
Myof 16
Myof 36
  • 94 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia MYOF 35
  • 99.6 (n)
  • 99.65 (a)
MYOF 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myof 35
  • 88.15 (n)
  • 93.9 (a)
oppossum
(Monodelphis domestica)
Mammalia MYOF 36
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYOF 36
  • 87 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOF 35
  • 76.79 (n)
  • 83.06 (a)
MYOF 36
  • 83 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYOF 36
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myof 35
  • 72.96 (n)
  • 76.46 (a)
Str.359 35
African clawed frog
(Xenopus laevis)
Amphibia Xl.9535 35
zebrafish
(Danio rerio)
Actinopterygii myof 35
  • 67.24 (n)
  • 67.93 (a)
zgc63504 35
myof 36
  • 67 (a)
OneToMany
MYOF 36
  • 67 (a)
OneToMany
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3338 35
fruit fly
(Drosophila melanogaster)
Insecta mfr 36
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fer-1 36
  • 24 (a)
ManyToMany
ferl-1 36
  • 20 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9291 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 42 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
-- 36
  • 41 (a)
ManyToMany
Species with no ortholog for MYOF:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for MYOF Gene

ENSEMBL:
Gene Tree for MYOF (if available)
TreeFam:
Gene Tree for MYOF (if available)

Paralogs for MYOF Gene

Paralogs for MYOF Gene

(2) SIMAP similar genes for MYOF Gene using alignment to 4 proteins:

genes like me logo Genes that share paralogs with MYOF: view

Variants for MYOF Gene

Sequence variations from dbSNP and Humsavar for MYOF Gene

SNP ID Clin Chr 10 pos Sequence Context AA Info Type
rs12256834 - 93,351,735(+) CCCCA(A/T)AGATT reference, missense
rs11187393 - 93,347,671(+) AAAGC(A/G)GTCCA reference, missense
rs11594445 - 93,323,282(+) CTTTC(C/T)GGGGT reference, missense
rs36032890 - 93,353,886(-) TAGGA(A/G)TCTAC reference, missense
rs34000599 - 93,328,792(-) ATATG(C/G)AGGAC reference, missense

Structural Variations from Database of Genomic Variants (DGV) for MYOF Gene

Variant ID Type Subtype PubMed ID
nsv7494 CNV Insertion 18451855
esv2674134 CNV Deletion 23128226
nsv24721 CNV Loss 16902084
nsv507571 CNV Insertion 20534489
esv2739640 CNV Deletion 23290073

Variation tolerance for MYOF Gene

Residual Variation Intolerance Score: 83.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.43; 85.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for MYOF Gene

HapMap Linkage Disequilibrium report
MYOF
Human Gene Mutation Database (HGMD)
MYOF

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for MYOF Gene

Disorders for MYOF Gene

MalaCards: The human disease database

(3) MalaCards diseases for MYOF Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
miyoshi muscular dystrophy 1
  • miyoshi muscular dystrophy
muscular dystrophy, limb-girdle, type 2b
  • limb-girdle muscular dystrophy, type 2b
dysferlinopathy
- elite association - COSMIC cancer census association via MalaCards
Search MYOF in MalaCards View complete list of genes associated with diseases

Relevant External Links for MYOF

Genetic Association Database (GAD)
MYOF
Human Genome Epidemiology (HuGE) Navigator
MYOF
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
MYOF
genes like me logo Genes that share disorders with MYOF: view

No data available for UniProtKB/Swiss-Prot and Genatlas for MYOF Gene

Publications for MYOF Gene

  1. Myoferlin, a candidate gene and potential modifier of muscular dystrophy. (PMID: 10607832) Davis D.B. … McNally E.M. (Hum. Mol. Genet. 2000) 2 3 4 23 67
  2. The third human FER-1-like protein is highly similar to dysferlin. (PMID: 10995573) Britton S. … Bashir R. (Genomics 2000) 2 3 23
  3. Myoferlin is critical for endocytosis in endothelial cells. (PMID: 19494235) Bernatchez P.N. … Sessa W.C. (Am. J. Physiol., Cell Physiol. 2009) 3 23
  4. While dysferlin and myoferlin are coexpressed in the human placenta, only dysferlin expression is responsive to trophoblast fusion in model systems. (PMID: 19228595) Robinson J.M. … Vandre D.D. (Biol. Reprod. 2009) 3 23
  5. Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. (PMID: 18495154) Patel P. … Keep N.H. (J. Mol. Biol. 2008) 3 23

Products for MYOF Gene

Sources for MYOF Gene

Back to Top

Content