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Aliases for MYOF Gene

Aliases for MYOF Gene

  • Myoferlin 2 3 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 Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B. Among its related pathways are Hepatitis C and Hepatocellular Carcinoma and Aryl Hydrocarbon Receptor Pathway. GO annotations related to this gene include phospholipid binding. An important paralog of this gene is DYSF.

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 CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for MYOF Gene

Genomics for MYOF Gene

Regulatory Elements for MYOF Gene

Enhancers for MYOF Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH10G093433 2 FANTOM5 Ensembl ENCODE dbSUPER 32.4 +41.3 41343 15.1 PKNOX1 FOXA2 MLX ARID4B SIN3A FEZF1 ZNF2 ZBTB7B FOS SP3 MYOF CYP26C1 GC10M093427 GC10M093419
GH10G093455 2 FANTOM5 Ensembl ENCODE dbSUPER 24.5 +12.6 12629 28.4 FOXA2 PKNOX1 WRNIP1 SIN3A FEZF1 ZNF2 YY1 FOS SP3 JUNB MYOF CEP55 ENSG00000273450 RPL17P34 PDE6C NOC3L GC10M093419 GC10M093427
GH10G093426 1.1 Ensembl ENCODE dbSUPER 27.8 +54.6 54562 2.2 SOX13 RAD51 HLF ZNF600 ZNF644 ZBTB40 MYOF GC10M093427 GC10M093419
GH10G093417 1.4 Ensembl ENCODE dbSUPER 21.4 +62.4 62388 5.4 ELF3 FOXA2 BMI1 YY1 GATA4 FOS CREM EGR2 MIER2 REST MYOF GC10M093427 GC10P093383
GH10G093375 1.7 FANTOM5 Ensembl ENCODE dbSUPER 15.3 +105.5 105487 2.9 FOXA2 WRNIP1 ARID4B BMI1 ZNF2 ZSCAN9 RAD21 RFX5 TCF12 ZNF143 MYOF CYP26A1 HHEX GC10P093383 RPL17P34
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around MYOF on UCSC Golden Path with GeneCards custom track

Promoters for MYOF Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000031773 986 3001 FOXA2 WRNIP1 SIN3A FEZF1 ZNF2 YY1 GTF3C2 ZNF121 FOS KLF7

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

Post-translational modifications for MYOF Gene

  • Ubiquitination at posLast=102102
  • Modification sites at PhosphoSitePlus

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.
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).

Gene Ontology (GO) - Molecular Function for MYOF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 17185750
GO:0005543 phospholipid binding ISS --
genes like me logo Genes that share ontologies with MYOF: view
genes like me logo Genes that share phenotypes with MYOF: view

Animal Models for MYOF Gene

MGI Knock Outs for MYOF:

Animal Model Products

  • Taconic Biosciences Mouse Models for MYOF

miRNA for MYOF Gene

miRTarBase miRNAs that target MYOF

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for MYOF gene
Compartment Confidence
plasma membrane 5
extracellular 5
nucleus 5
cytosol 3
peroxisome 2

Gene Ontology (GO) - Cellular Components for MYOF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005635 nuclear envelope TAS 10607832
GO:0005886 plasma membrane IDA,TAS --
GO:0005901 caveola ISS --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with MYOF: view

Pathways & Interactions for MYOF Gene

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

Pathways by source for MYOF Gene

Gene Ontology (GO) - Biological Process for MYOF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001778 plasma membrane repair ISS --
GO:0006936 muscle contraction TAS 10607832
GO:0007520 myoblast fusion IEA --
GO:0008015 blood circulation TAS 10607832
GO:0030947 regulation of vascular endothelial growth factor receptor signaling pathway IEA --
genes like me logo Genes that share ontologies with MYOF: view

No data available for 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:

Inhibitory RNA Products

Clone Products

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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, MaxQB, and MOPED for MYOF Gene



Protein tissue co-expression partners for MYOF Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of MYOF Gene:

MYOF

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.

Evidence on tissue expression from TISSUES for MYOF Gene

  • Lung(4.7)
  • Heart(4.5)
  • Thyroid gland(4.3)
  • Nervous system(4.2)
  • Gall bladder(4)
  • Intestine(3.6)
  • Pancreas(3.1)
  • Muscle(2.4)
  • Adrenal gland(2.2)
genes like me logo Genes that share expression patterns with MYOF: view

Primer Products

No data available for mRNA differential expression in normal tissues and Phenotype-based relationships between genes and organs from Gene ORGANizer 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
chimpanzee
(Pan troglodytes)
Mammalia MYOF 34 35
  • 99.6 (n)
dog
(Canis familiaris)
Mammalia MYOF 34 35
  • 91.25 (n)
cow
(Bos Taurus)
Mammalia MYOF 34 35
  • 90.62 (n)
mouse
(Mus musculus)
Mammalia Myof 34 16 35
  • 88.57 (n)
rat
(Rattus norvegicus)
Mammalia Myof 34
  • 88.15 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia MYOF 35
  • 87 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia MYOF 35
  • 86 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYOF 34 35
  • 76.79 (n)
lizard
(Anolis carolinensis)
Reptilia MYOF 35
  • 81 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myof 34
  • 72.96 (n)
Str.359 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.9535 34
zebrafish
(Danio rerio)
Actinopterygii myof 34 35
  • 67.24 (n)
MYOF 35
  • 67 (a)
OneToMany
zgc63504 34
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.3338 34
fruit fly
(Drosophila melanogaster)
Insecta mfr 35
  • 24 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea fer-1 35
  • 24 (a)
ManyToMany
ferl-1 35
  • 20 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 42 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
-- 35
  • 41 (a)
ManyToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.9291 34
Species where no ortholog for MYOF was found in the sources mined by GeneCards:
  • 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
rs1000036991 -- 93,384,866(+) CACAA(C/G)GCATG intron-variant
rs1000065338 -- 93,429,900(+) TCTGG(C/T)CTTGC intron-variant
rs1000069421 -- 93,454,317(+) GAAAG(-/AA)AAAAA intron-variant
rs1000096143 -- 93,451,182(+) TAAAA(A/T)TATAA intron-variant
rs1000118523 -- 93,373,530(+) TTTTA(G/T)TATAA intron-variant

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

Variant ID Type Subtype PubMed ID
esv2674134 CNV deletion 23128226
esv2739640 CNV deletion 23290073
esv3546697 CNV deletion 23714750
esv3624238 CNV loss 21293372
esv3624239 CNV loss 21293372
esv3624240 CNV loss 21293372
nsv1128081 CNV deletion 24896259
nsv1134042 CNV deletion 24896259
nsv1134908 CNV deletion 24896259
nsv24721 CNV deletion 16902084
nsv472171 CNV novel sequence insertion 20440878
nsv507571 OTHER sequence alteration 20534489
nsv7494 CNV insertion 18451855

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

Human Gene Mutation Database (HGMD)
MYOF
SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYOF

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

Disorders for MYOF Gene

MalaCards: The human disease database

(5) MalaCards diseases for MYOF Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
miyoshi muscular dystrophy 1
  • miyoshi muscular dystrophy
autosomal recessive limb-girdle muscular dystrophy type 2b
  • lgmd2b
dysferlinopathy
deafness, autosomal recessive 9
  • auditory neuropathy, autosomal recessive, 1
muscular dystrophy, limb-girdle, type 2b
  • limb-girdle muscular dystrophy, type 2b
- 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 22 64
  2. The third human FER-1-like protein is highly similar to dysferlin. (PMID: 10995573) Britton S. … Bashir R. (Genomics 2000) 2 3 4 22 64
  3. 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 4 22 64
  4. The endocytic recycling protein EHD2 interacts with myoferlin to regulate myoblast fusion. (PMID: 18502764) Doherty K.R. … McNally E.M. (J. Biol. Chem. 2008) 3 4 22 64
  5. Myoferlin regulates vascular endothelial growth factor receptor-2 stability and function. (PMID: 17702744) Bernatchez P.N. … Sessa W.C. (J. Biol. Chem. 2007) 2 3 4 64

Products for MYOF Gene

Sources for MYOF Gene

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