Human Gene MYOG (ENST00000241651.5_7) from GENCODE V47lift37
  Description: myogenin (from RefSeq NM_002479.6)
Gencode Transcript: ENST00000241651.5_7
Gencode Gene: ENSG00000122180.5_9
Transcript (Including UTRs)
   Position: hg19 chr1:203,052,257-203,055,140 Size: 2,884 Total Exon Count: 3 Strand: -
Coding Region
   Position: hg19 chr1:203,053,038-203,055,089 Size: 2,052 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 (chr1:203,052,257-203,055,140)mRNA (may differ from genome)Protein (224 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCMalacardsMGIOMIMPubMedReactome
UniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: MYOG_HUMAN
DESCRIPTION: RecName: Full=Myogenin; AltName: Full=Class C basic helix-loop-helix protein 3; Short=bHLHc3; AltName: Full=Myogenic factor 4; Short=Myf-4;
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: MYOG
Diseases sorted by gene-association score: embryonal rhabdomyosarcoma (8), botryoid rhabdomyosarcoma (7), rhabdomyosarcoma (6), gallbladder sarcoma (6), inflammatory leiomyosarcoma (5), leiomyosarcoma (5), muscle cancer (5), rhabdomyosarcoma 2, alveolar (5), ewing sarcoma (4), skeletal muscle cancer (4), malignant peripheral nerve sheath tumor (4), medullomyoblastoma (3), orbit rhabdomyosarcoma (3), undifferentiated embryonal sarcoma of the liver (3), pseudosarcomatous fibromatosis (3), breast rhabdomyosarcoma (2), fallopian tube endometrioid adenocarcinoma (2), conventional leiomyosarcoma (2), embryonal sarcoma (2), lung combined type small cell carcinoma (2), desmoplastic small round cell tumor (2), fallopian tube adenocarcinoma (2), adult fibrosarcoma (2), wilms tumor susceptibility-5 (1), malignant mesenchymoma (1), spindle cell liposarcoma (1), nephrogenic adenofibroma (1), extraosseous ewing's sarcoma (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  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: 24.67 RPKM in Muscle - Skeletal
Total median expression: 26.19 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 -16.4051-0.322 Picture PostScript Text
3' UTR -272.60781-0.349 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

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain
PF01586 - Myogenic Basic domain

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

ModBase Predicted Comparative 3D Structure on P15173
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    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000977 RNA polymerase II regulatory region sequence-specific DNA binding
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:0000987 core promoter proximal region sequence-specific DNA binding
GO:0001047 core promoter binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding
GO:0003677 DNA binding
GO:0003700 transcription factor activity, sequence-specific DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0005515 protein binding
GO:0031490 chromatin DNA 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:0001503 ossification
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0007049 cell cycle
GO:0007275 multicellular organism development
GO:0007517 muscle organ development
GO:0007519 skeletal muscle tissue development
GO:0008285 negative regulation of cell proliferation
GO:0009629 response to gravity
GO:0010831 positive regulation of myotube differentiation
GO:0014732 skeletal muscle atrophy
GO:0014737 positive regulation of muscle atrophy
GO:0014842 regulation of skeletal muscle satellite cell proliferation
GO:0014850 response to muscle activity
GO:0014873 response to muscle activity involved in regulation of muscle adaptation
GO:0014878 response to electrical stimulus involved in regulation of muscle adaptation
GO:0014891 striated muscle atrophy
GO:0014894 response to denervation involved in regulation of muscle adaptation
GO:0014902 myotube differentiation
GO:0030154 cell differentiation
GO:0035914 skeletal muscle cell differentiation
GO:0042693 muscle cell fate commitment
GO:0042789 mRNA transcription from RNA polymerase II promoter
GO:0043403 skeletal muscle tissue regeneration
GO:0045445 myoblast differentiation
GO:0045663 positive regulation of myoblast differentiation
GO:0045820 negative regulation of glycolytic process
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0048741 skeletal muscle fiber development
GO:0048743 positive regulation of skeletal muscle fiber development
GO:0051149 positive regulation of muscle cell differentiation
GO:0071158 positive regulation of cell cycle arrest
GO:0071259 cellular response to magnetism
GO:0071285 cellular response to lithium ion
GO:0071300 cellular response to retinoic acid
GO:0071356 cellular response to tumor necrosis factor
GO:0071363 cellular response to growth factor stimulus
GO:0071392 cellular response to estradiol stimulus
GO:1901739 regulation of myoblast fusion
GO:1901741 positive regulation of myoblast fusion
GO:1903862 positive regulation of oxidative phosphorylation

Cellular Component:
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005667 transcription factor complex
GO:0032993 protein-DNA complex


-  Descriptions from all associated GenBank mRNAs
  BC006347 - Homo sapiens myogenin (myogenic factor 4), mRNA (cDNA clone IMAGE:4106815), **** WARNING: chimeric clone ****.
BC053899 - Homo sapiens myogenin (myogenic factor 4), mRNA (cDNA clone MGC:61433 IMAGE:6170028), complete cds.
X17651 - Human Myf-4 mRNA for myogenic determination factor.
JD483773 - Sequence 464797 from Patent EP1572962.
CQ873735 - Sequence 154 from Patent WO2004076622.
DD413572 - Regulation of Mammalian Cells.
JD483956 - Sequence 464980 from Patent EP1572962.
JD315166 - Sequence 296190 from Patent EP1572962.
JD172327 - Sequence 153351 from Patent EP1572962.
JD107908 - Sequence 88932 from Patent EP1572962.
JD120991 - Sequence 102015 from Patent EP1572962.
EU831793 - Synthetic construct Homo sapiens clone HAIB:100066822; DKFZo008E0121 myogenin (myogenic factor 4) protein (MYOG) gene, encodes complete protein.
KJ891666 - Synthetic construct Homo sapiens clone ccsbBroadEn_01060 MYOG gene, encodes complete protein.
EU831870 - Synthetic construct Homo sapiens clone HAIB:100066899; DKFZo004E0122 myogenin (myogenic factor 4) protein (MYOG) gene, encodes complete protein.
BT007233 - Homo sapiens myogenin (myogenic factor 4) mRNA, complete cds.
CU691060 - Synthetic construct Homo sapiens gateway clone IMAGE:100021642 5' read MYOG mRNA.
AB463908 - Synthetic construct DNA, clone: pF1KB7587, Homo sapiens MYOG gene for myogenin, without stop codon, in Flexi system.

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

Protein P15173 (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: BHLHC3, ENST00000241651.1, ENST00000241651.2, ENST00000241651.3, ENST00000241651.4, MYF4, MYOG_HUMAN, NM_002479, P15173, Q53XW6, uc317ejd.1, uc317ejd.2
UCSC ID: ENST00000241651.5_7
RefSeq Accession: NM_002479.6
Protein: P15173 (aka MYOG_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.