ENSG00000111046


Homo sapiens

Features
Gene ID: ENSG00000111046
  
Biological name :MYF6
  
Synonyms : MYF6 / myogenic factor 6 / P23409
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 12
Strand: 1
Band: q21.31
Gene start: 80707498
Gene end: 80709474
  
Corresponding Affymetrix probe sets: 206372_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000228641
NCBI entrez gene - 4618     See in Manteia.
OMIM - 159991
RefSeq - NM_002469
RefSeq Peptide - NP_002460
swissprot - P23409
Ensembl - ENSG00000111046
  
Related genetic diseases (OMIM): 614408 - Centronuclear myopathy 3, 614408

This gene has been taged as a transcription factor by TFT
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 myf6ENSDARG00000029830Danio rerio
 MYF6ENSGALG00000010936Gallus gallus
 Myf6ENSMUSG00000035923Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
MYOG / P15173 / myogeninENSG0000012218042
MYOD1 / P15172 / myogenic differentiation 1ENSG0000012915239
MYF5 / P13349 / myogenic factor 5ENSG0000011104937


Protein motifs (from Interpro)
Interpro ID Name
 IPR002546  Myogenic basic muscle-specific protein
 IPR011598  Myc-type, basic helix-loop-helix (bHLH) domain
 IPR036638  Helix-loop-helix DNA-binding domain superfamily


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0001756 somitogenesis IEA
 biological_processGO:0006355 regulation of transcription, DNA-templated IEA
 biological_processGO:0006357 regulation of transcription by RNA polymerase II TAS
 biological_processGO:0006366 transcription by RNA polymerase II IEA
 biological_processGO:0007275 multicellular organism development IEA
 biological_processGO:0007517 muscle organ development IEA
 biological_processGO:0007519 skeletal muscle tissue development IEA
 biological_processGO:0030154 cell differentiation IEA
 biological_processGO:0035914 skeletal muscle cell differentiation IEA
 biological_processGO:0042693 muscle cell fate commitment ISS
 biological_processGO:0043403 skeletal muscle tissue regeneration IEA
 biological_processGO:0045663 positive regulation of myoblast differentiation IBA
 biological_processGO:0045892 negative regulation of transcription, DNA-templated IEA
 biological_processGO:0045893 positive regulation of transcription, DNA-templated IEA
 biological_processGO:0045944 positive regulation of transcription by RNA polymerase II ISS
 biological_processGO:0048743 positive regulation of skeletal muscle fiber development IBA
 biological_processGO:0051149 positive regulation of muscle cell differentiation TAS
 biological_processGO:0060415 muscle tissue morphogenesis IEA
 biological_processGO:1901741 positive regulation of myoblast fusion IBA
 cellular_componentGO:0005634 nucleus TAS
 cellular_componentGO:0005654 nucleoplasm TAS
 cellular_componentGO:0090575 RNA polymerase II transcription factor complex ISS
 molecular_functionGO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IBA
 molecular_functionGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding NAS
 molecular_functionGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding IEA
 molecular_functionGO:0003677 DNA binding IEA
 molecular_functionGO:0003700 DNA-binding transcription factor activity TAS
 molecular_functionGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding IBA
 molecular_functionGO:0046982 protein heterodimerization activity ISS
 molecular_functionGO:0046983 protein dimerization activity IEA
 molecular_functionGO:0070888 E-box binding ISS


Pathways (from Reactome)
Pathway description
CDO in myogenesis


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000006 Autosomal dominant inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele." [HPO:curators]
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 HP:0001324 Muscle weakness "Reduced strength of muscles." [HPO:curators]
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 HP:0003236 Elevated serum creatine phosphokinase 
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 HP:0003394 Muscle cramps 
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 HP:0100305 Ring fibers "Ring fibers are formed by a bundle of peripheral myofibrils which are circumferentially oriented such that they encircle the internal portion of the sarcoplasm which is normal in structure and orientation." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
 ENSG00000071564 TCF3 / P15923 / transcription factor 3  / reaction / complex
 ENSG00000081189 MEF2C / Q06413 / myocyte enhancer factor 2C  / reaction / complex
 ENSG00000068305 MEF2A / Q02078 / myocyte enhancer factor 2A  / complex / reaction






 

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