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MYF5 (myogenic factor 5)

Identity

Other namesbHLHc2
HGNC (Hugo) MYF5
LocusID (NCBI) 4617
Location 12q21.31
Location_base_pair Starts at 81110708 and ends at 81113447 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)MYF5   7565
Entrez_Gene (NCBI)MYF5  4617  myogenic factor 5
Cards
GeneCards (Weizmann)MYF5
Ensembl (Hinxton)ENSG00000111049 [Gene_View]  chr12:81110708-81113447 [Contig_View]  MYF5 [Vega]
AceView (NCBI)MYF5
Genatlas (Paris)MYF5
SOURCE (Stanford)NM_005593
Genomic and cartography
GoldenPath (UCSC)MYF5  -  12q21.31   chr12:81110708-81113447 +  12q21.31   [Description]    (hg19-Feb_2009)
EnsemblMYF5 - 12q21.31 [CytoView]
Mapping of homologs : NCBIMYF5 [Mapview]
OMIM159990   
Gene and transcription
Genbank (Entrez)BC069373 BP231293 BT019399 BX089431 X14894
RefSeq transcript (SRS)NM_005593
RefSeq transcript (Entrez)NM_005593
RefSeq genomic (SRS)AC_000144 NC_000012 NC_018923 NT_029419 NW_001838061 NW_004078075
RefSeq genomic (Entrez)AC_000144 NC_000012 NC_018923 NT_029419 NW_001838061 NW_004078075
Consensus coding sequences : CCDS (NCBI)MYF5
Cluster EST : UnigeneHs.178023 [ SRS ] Hs.178023 [ NCBI ]
CGAP (NCI)Hs.178023
Alternative Splicing : Fast-db (Paris)GSHG0006872
Alternative Splicing GalleryENSG00000111049
Gene ExpressionMYF5 [ NCBI-GEO ]   MYF5 [ EBI - ARRAY_EXPRESS ]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP13349 (SRS) P13349 (Uniprot)
NextProtP13349
With graphics : InterProP13349
Splice isoforms : SwissVarP13349(Swissvar)
Domaine pattern : Prosite (SRS)BHLH (PS50888)   
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)   
Domains : Interpro (SRS)Basic    HLH_dom    Myf5   
Domains : Interpro (EBI)Basic    HLH_dom    Myf5   
Related proteins : CluSTrP13349
Domain families : Pfam (SRS)Basic (PF01586)    HLH (PF00010)    Myf5 (PF12232)   
Domain families : Pfam (Sanger)Basic (PF01586)    HLH (PF00010)    Myf5 (PF12232)   
Domain families : Pfam (NCBI)pfam01586    pfam00010    pfam12232   
Domain families : Smart (EMBL)BASIC (SM00520)  HLH (SM00353)  
DMDM4617
Blocks (Seattle)P13349
Human Protein AtlasENSG00000111049
HPRD01168
IPIIPI00008389   
Protein Interaction databases
DIP (DOE-UCLA)P13349
IntAct (EBI)P13349
FunCoupENSG00000111049
REACTOMEMYF5
Protein Interaction Database4617
BioGRIDMYF5
InParanoidP13349
Interologous Interaction database P13349
IntegromeDBMYF5
Polymorphism : SNP, mutations, diseases
SNP Single Nucleotide Polymorphism (NCBI)MYF5
SNP (GeneSNP Utah)MYF5
SNP : HGBaseMYF5
Genetic variants : HAPMAPMYF5
Somatic Mutations in Cancer : COSMICMYF5 
CONAN: Copy Number AnalysisMYF5 
Mutations and Diseases : HGMDMYF5
OMIM159990   
GENETests159990   
Disease Genetic AssociationMYF5
Huge Navigator MYF5 [HugePedia]  MYF5 [HugeCancerGEM]
Genomic VariantsMYF5  MYF5 [DGVbeta]
snp3D : Map Gene to Disease4617
General knowledge
Homologs : HomoloGeneMYF5
Homology/Alignments : Family Browser (UCSC)MYF5
Phylogenetic Trees/Animal Genes : TreeFamMYF5
Chemical/Protein Interactions : CTD4617
Chemical/Pharm GKB GenePA31363
Clinical trialMYF5
Cancer Resource (Charite)ENSG00000111049
Ontology : AmiGOcartilage condensation  ossification  somitogenesis  regulation of cell-matrix adhesion  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity  protein binding  nucleoplasm  regulation of transcription from RNA polymerase II promoter  muscle organ development  skeletal muscle tissue development  extracellular matrix organization  muscle cell differentiation  muscle cell fate commitment  camera-type eye development  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  embryonic skeletal system morphogenesis  positive regulation of muscle cell differentiation  muscle tissue morphogenesis  E-box binding  
Ontology : EGO-EBIcartilage condensation  ossification  somitogenesis  regulation of cell-matrix adhesion  RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity  protein binding  nucleoplasm  regulation of transcription from RNA polymerase II promoter  muscle organ development  skeletal muscle tissue development  extracellular matrix organization  muscle cell differentiation  muscle cell fate commitment  camera-type eye development  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  embryonic skeletal system morphogenesis  positive regulation of muscle cell differentiation  muscle tissue morphogenesis  E-box binding  
Other databases
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
PubGeneMYF5
iHOPMYF5
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated01-2013Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed May 1 12:37:59 CEST 2013
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