Aliases for MYF5 Gene

Aliases for MYF5 Gene

  • Myogenic Factor 5 2 3 4 5
  • Class C Basic Helix-Loop-Helix Protein 2 3 4
  • BHLHc2 3 4
  • Myf-5 3 4
  • BHLHC2 4
  • EORVA 3

External Ids for MYF5 Gene

Previous GeneCards Identifiers for MYF5 Gene

  • GC12P081085
  • GC12P081474
  • GC12P079613
  • GC12P078167

Summaries for MYF5 Gene

GeneCards Summary for MYF5 Gene

MYF5 (Myogenic Factor 5) is a Protein Coding gene. Diseases associated with MYF5 include Ophthalmoplegia, External, With Rib And Vertebral Anomalies and Scoliosis. Among its related pathways are Regulation of Wnt-mediated beta catenin signaling and target gene transcription and Developmental Biology. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is MYOD1.

UniProtKB/Swiss-Prot Summary for MYF5 Gene

  • Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation (PubMed:29887215). Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.

Additional gene information for MYF5 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for MYF5 Gene

Genomics for MYF5 Gene

GeneHancer (GH) Regulatory Elements for MYF5 Gene

Promoters and enhancers for MYF5 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH12J080712 Promoter/Enhancer 1.2 EPDnew Ensembl ENCODE dbSUPER 750.6 -0.3 -295 7.6 YY1 CUX1 HSALNG0092692 MYF5 ENSG00000258044 MYF6
GH12J080776 Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.7 +61.1 61083 2.5 ZNF24 SP1 RBPJ CREB1 MIXL1 JUND ETV6 RELA RAD21 NKRF piR-35729-014 MYF5 piR-32559-098 LINC01490
GH12J080578 Enhancer 0.8 FANTOM5 ENCODE dbSUPER 15.3 -136.1 -136059 4.6 POLR2A FOS JUND LOC105369867 MYF5 ENSG00000257429 PTPRQ
GH12J080551 Enhancer 1 Ensembl ENCODE dbSUPER 10.3 -164.2 -164201 3.1 ZNF362 BCL6B MAFK ZSCAN21 POLR2A BRCA1 ZEB2 CEBPB JUN JUND MYF5 AKIRIN1P1 lnc-LIN7A-4 LOC105369867 piR-52368-035 PTPRQ
GH12J080648 Enhancer 0.8 UCNEbase Ensembl ENCODE 10.5 -67.8 -67761 1.3 FOS JUND MYF5 L13713-054 MYF6 PTPRQ
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around MYF5 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the MYF5 gene promoter:
  • AML1a
  • MyoD

Genomic Locations for MYF5 Gene

Genomic Locations for MYF5 Gene
chr12:80,716,912-80,719,671
(GRCh38/hg38)
Size:
2,760 bases
Orientation:
Plus strand
chr12:81,110,691-81,113,452
(GRCh37/hg19)
Size:
2,762 bases
Orientation:
Plus strand

Genomic View for MYF5 Gene

Genes around MYF5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
MYF5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for MYF5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for MYF5 Gene

Proteins for MYF5 Gene

  • Protein details for MYF5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P13349-MYF5_HUMAN
    Recommended name:
    Myogenic factor 5
    Protein Accession:
    P13349
    Secondary Accessions:
    • Q6ISR9

    Protein attributes for MYF5 Gene

    Size:
    255 amino acids
    Molecular mass:
    28296 Da
    Quaternary structure:
    • Efficient DNA binding requires dimerization with another bHLH protein.

neXtProt entry for MYF5 Gene

Post-translational modifications for MYF5 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for MYF5 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for MYF5
  • Boster Bio Antibodies for MYF5

No data available for DME Specific Peptides for MYF5 Gene

Domains & Families for MYF5 Gene

Gene Families for MYF5 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for MYF5 Gene

GenScript: Design optimal peptide antigens:
  • Class C basic helix-loop-helix protein 2 (MYF5_HUMAN)
genes like me logo Genes that share domains with MYF5: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for MYF5 Gene

Function for MYF5 Gene

Molecular function for MYF5 Gene

UniProtKB/Swiss-Prot Function:
Transcriptional activator that promotes transcription of muscle-specific target genes and plays a role in muscle differentiation (PubMed:29887215). Together with MYOG and MYOD1, co-occupies muscle-specific gene promoter core region during myogenesis. Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.
GENATLAS Biochemistry:
myogenic factor 5,transcription activator

Gene Ontology (GO) - Molecular Function for MYF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA 21873635
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific TAS,NAS 19274049
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,IBA 21873635
GO:0003677 DNA binding IEA --
GO:0005515 protein binding IPI 19829708
genes like me logo Genes that share ontologies with MYF5: view
genes like me logo Genes that share phenotypes with MYF5: view

Human Phenotype Ontology for MYF5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for MYF5 Gene

MGI Knock Outs for MYF5:
  • Myf5 Myf5<tm2Tajb>
  • Myf5 Myf5<tm1Jae>
  • Myf5 Myf5<tm1Pas>
  • Myf5 Myf5<tm1Tajb>
  • Myf5 Myf5<tm3.1Thbr>
  • Myf5 Myf5<tm2(Myog)Jae>
  • Myf5 Myf5<tm4(Myod1)Sor>
  • Myf5 Myf5<tm2(Fgf6)Thbr>

Animal Model Products

CRISPR Products

miRNA for MYF5 Gene

Targeted motifs for MYF5 Gene
HOMER Transcription Factor Regulatory Elements motif MYF5
  • Consensus sequence: BAACAGCTGT Submotif: canonical Cell Type: GM GEO ID: GSE24852

Clone Products

  • Addgene plasmids for MYF5

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog and Transcription Factor Targets for MYF5 Gene

Localization for MYF5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for MYF5 Gene

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 MYF5 gene
Compartment Confidence
nucleus 5
cytoskeleton 2
plasma membrane 1
extracellular 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for MYF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IBA 21873635
GO:0005654 nucleoplasm TAS --
GO:0090575 RNA polymerase II transcription factor complex ISS 8035824
genes like me logo Genes that share ontologies with MYF5: view

Pathways & Interactions for MYF5 Gene

genes like me logo Genes that share pathways with MYF5: view

Pathways by source for MYF5 Gene

1 Qiagen pathway for MYF5 Gene
  • Transcriptional Regulatory Network in Embryonic Stem Cell

SIGNOR curated interactions for MYF5 Gene

Activates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for MYF5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0001502 cartilage condensation IEA --
GO:0001503 ossification IEA --
GO:0001756 somitogenesis IEA --
GO:0001952 regulation of cell-matrix adhesion IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with MYF5: view

Drugs & Compounds for MYF5 Gene

(5) Drugs for MYF5 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials

(2) Additional Compounds for MYF5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with MYF5: view

Transcripts for MYF5 Gene

mRNA/cDNA for MYF5 Gene

(1) REFSEQ mRNAs :
(5) Additional mRNA sequences :
(8) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

  • Addgene plasmids for MYF5

Alternative Splicing Database (ASD) splice patterns (SP) for MYF5 Gene

No ASD Table

Relevant External Links for MYF5 Gene

GeneLoc Exon Structure for
MYF5
ECgene alternative splicing isoforms for
MYF5

Expression for MYF5 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for MYF5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for MYF5 Gene

This gene is overexpressed in Muscle - Skeletal (x50.0).

NURSA nuclear receptor signaling pathways regulating expression of MYF5 Gene:

MYF5

SOURCE GeneReport for Unigene cluster for MYF5 Gene:

Hs.178023

Evidence on tissue expression from TISSUES for MYF5 Gene

  • Muscle(4.7)
  • Eye(4)
  • Nervous system(3.6)
  • Liver(3.4)
  • Heart(2)
  • Pancreas(2)
genes like me logo Genes that share expression patterns with MYF5: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for MYF5 Gene

Orthologs for MYF5 Gene

This gene was present in the common ancestor of animals.

Orthologs for MYF5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia MYF5 33 32
  • 98.95 (n)
OneToOne
cow
(Bos Taurus)
Mammalia MYF5 33 32
  • 91.37 (n)
OneToOne
dog
(Canis familiaris)
Mammalia MYF5 33 32
  • 87.19 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Myf5 32
  • 86.8 (n)
mouse
(Mus musculus)
Mammalia Myf5 17 33 32
  • 86.67 (n)
oppossum
(Monodelphis domestica)
Mammalia MYF5 33
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia MYF5 33
  • 85 (a)
OneToOne
chicken
(Gallus gallus)
Aves MYF5 33 32
  • 72.55 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia MYF5 33
  • 55 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia myf5 32
  • 67.19 (n)
MGC76020 32
African clawed frog
(Xenopus laevis)
Amphibia XMyf-5 32
zebrafish
(Danio rerio)
Actinopterygii myf5 33 32 32
  • 65.25 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta nau 33
  • 30 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea hlh-1 33
  • 22 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 15 (a)
OneToMany
Species where no ortholog for MYF5 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)
  • rainbow trout (Oncorhynchus mykiss)
  • 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 MYF5 Gene

ENSEMBL:
Gene Tree for MYF5 (if available)
TreeFam:
Gene Tree for MYF5 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for MYF5: view image

Paralogs for MYF5 Gene

Paralogs for MYF5 Gene

(4) SIMAP similar genes for MYF5 Gene using alignment to 1 proteins:

  • MYF5_HUMAN
genes like me logo Genes that share paralogs with MYF5: view

Variants for MYF5 Gene

Sequence variations from dbSNP and Humsavar for MYF5 Gene

SNP ID Clin Chr 12 pos Variation AA Info Type
rs1555216163 pathogenic, Abnormality of the ribs, External ophthalmoplegia, Scoliosis, OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 80,717,084(+) CCAGTTCTCACC/CC coding_sequence_variant, frameshift
rs1565864693 pathogenic, Abnormality of the ribs, External ophthalmoplegia, Scoliosis, OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES 80,717,346(+) C/T coding_sequence_variant, missense_variant
VAR_081557 Ophthalmoplegia, external, with rib and vertebral anomalies (EORVA) [MIM:618155] p.Arg95Cys
rs1000220856 -- 80,717,933(+) A/G intron_variant
rs1001023640 -- 80,716,195(+) C/G upstream_transcript_variant

Variation tolerance for MYF5 Gene

Residual Variation Intolerance Score: 14.1% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.69; 14.76% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for MYF5 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
MYF5

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Structural Variations from Database of Genomic Variants (DGV) for MYF5 Gene

Disorders for MYF5 Gene

MalaCards: The human disease database

(11) MalaCards diseases for MYF5 Gene - From: OMIM, ClinVar, DISEASES, Novoseek, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search MYF5 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

MYF5_HUMAN
  • Ophthalmoplegia, external, with rib and vertebral anomalies (EORVA) [MIM:618155]: An autosomal recessive disorder characterized by congenital nonprogressive external ophthalmoplegia, ptosis, scoliosis, torticollis, and vertebral and rib anomalies. {ECO:0000269 PubMed:29887215}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for MYF5

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with MYF5: view

No data available for Genatlas for MYF5 Gene

Publications for MYF5 Gene

  1. The myogenic basic helix-loop-helix family of transcription factors shows similar requirements for SWI/SNF chromatin remodeling enzymes during muscle differentiation in culture. (PMID: 12105204) Roy K … Imbalzano AN (The Journal of biological chemistry 2002) 2 3 23 56
  2. Assignment of the human myogenic factors 5 and 6 (MYF5, MYF6) gene cluster to 12q21 by in situ hybridization and physical mapping of the locus between D12S350 and D12S106. (PMID: 8978788) Cupelli L … Krauter K (Cytogenetics and cell genetics 1996) 2 3 23 56
  3. Recessive MYF5 Mutations Cause External Ophthalmoplegia, Rib, and Vertebral Anomalies. (PMID: 29887215) Di Gioia SA … Engle EC (American journal of human genetics 2018) 3 4 56
  4. High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men. (PMID: 19453261) Yerges LM … MrOS Research Group (Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2009) 3 43 56
  5. DUX4c is up-regulated in FSHD. It induces the MYF5 protein and human myoblast proliferation. (PMID: 19829708) Ansseau E … Coppée F (PloS one 2009) 3 23 56

Products for MYF5 Gene

Sources for MYF5 Gene