Human Gene MYF5 (ENST00000228644.4_4) from GENCODE V47lift37
  Description: myogenic factor 5 (from RefSeq NM_005593.3)
Gencode Transcript: ENST00000228644.4_4
Gencode Gene: ENSG00000111049.4_7
Transcript (Including UTRs)
   Position: hg19 chr12:81,110,691-81,113,450 Size: 2,760 Total Exon Count: 3 Strand: +
Coding Region
   Position: hg19 chr12:81,110,843-81,112,830 Size: 1,988 Coding Exon Count: 3 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr12:81,110,691-81,113,450)mRNA (may differ from genome)Protein (255 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYF5_HUMAN
DESCRIPTION: RecName: Full=Myogenic factor 5; Short=Myf-5; AltName: Full=Class C basic helix-loop-helix protein 2; Short=bHLHc2;
FUNCTION: Involved in muscle differentiation (myogenic factor). Induces fibroblasts to differentiate into myoblasts. Probable sequence specific DNA-binding protein.
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein.
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: MYF5
Diseases sorted by gene-association score: rhabdomyosarcoma (4), skeletal muscle cancer (3), waardenburg's syndrome (2), inflammatory leiomyosarcoma (2), conventional leiomyosarcoma (2), extraosseous ewing's sarcoma (1), botryoid rhabdomyosarcoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 0.94 RPKM in Muscle - Skeletal
Total median expression: 0.96 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -53.30152-0.351 Picture PostScript Text
3' UTR -110.70620-0.179 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR002546 - Basic
IPR011598 - HLH_dom
IPR022032 - Myf5

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain
PF01586 - Myogenic Basic domain
PF12232 - Myogenic determination factor 5

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on P13349
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
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-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0005515 protein binding
GO:0043565 sequence-specific DNA binding
GO:0046982 protein heterodimerization activity
GO:0046983 protein dimerization activity
GO:0070888 E-box binding

Biological Process:
GO:0001502 cartilage condensation
GO:0001503 ossification
GO:0001756 somitogenesis
GO:0001952 regulation of cell-matrix adhesion
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006357 regulation of transcription from RNA polymerase II promoter
GO:0006366 transcription from RNA polymerase II promoter
GO:0007275 multicellular organism development
GO:0007517 muscle organ development
GO:0007519 skeletal muscle tissue development
GO:0030154 cell differentiation
GO:0030198 extracellular matrix organization
GO:0035914 skeletal muscle cell differentiation
GO:0042693 muscle cell fate commitment
GO:0043010 camera-type eye development
GO:0045663 positive regulation of myoblast differentiation
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048644 muscle organ morphogenesis
GO:0048704 embryonic skeletal system morphogenesis
GO:0048743 positive regulation of skeletal muscle fiber development
GO:0051149 positive regulation of muscle cell differentiation
GO:0060415 muscle tissue morphogenesis
GO:1901741 positive regulation of myoblast fusion

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0090575 RNA polymerase II transcription factor complex


-  Descriptions from all associated GenBank mRNAs
  BC069373 - Homo sapiens myogenic factor 5, mRNA (cDNA clone MGC:97051 IMAGE:7262262), complete cds.
X14894 - Human mRNA for myogenic factor Myf-5.
JD534571 - Sequence 515595 from Patent EP1572962.
AB528948 - Synthetic construct DNA, clone: pF1KB7530, Homo sapiens MYF5 gene for myogenic factor 5, without stop codon, in Flexi system.
BT019399 - Homo sapiens myogenic factor 5 mRNA, complete cds.
JD098467 - Sequence 79491 from Patent EP1572962.
JD379309 - Sequence 360333 from Patent EP1572962.
JD172591 - Sequence 153615 from Patent EP1572962.
JD565923 - Sequence 546947 from Patent EP1572962.
JD349828 - Sequence 330852 from Patent EP1572962.
CQ873709 - Sequence 128 from Patent WO2004076622.
DD413546 - Regulation of Mammalian Cells.
CQ873848 - Sequence 267 from Patent WO2004076622.
DD413685 - Regulation of Mammalian Cells.

-  Biochemical and Signaling Pathways
  Reactome (by CSHL, EBI, and GO)

Protein P13349 (Reactome details) participates in the following event(s):

R-HSA-448962 Heterodimerization of E proteins with Myod
R-HSA-448963 Interaction of MyoD:E protein with MEF2
R-HSA-375170 CDO in myogenesis
R-HSA-525793 Myogenesis
R-HSA-1266738 Developmental Biology

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHC2, ENST00000228644.1, ENST00000228644.2, ENST00000228644.3, MYF5_HUMAN, NM_005593, P13349, Q6ISR9, uc317dok.1, uc317dok.2
UCSC ID: ENST00000228644.4_4
RefSeq Accession: NM_005593.3
Protein: P13349 (aka MYF5_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.