Human Gene MYF5 (ENST00000228644.4_4) from GENCODE V47lift37
Description: myogenic factor 5 (from RefSeq NM_005593.3)Gencode Transcript: ENST00000228644.4_4Gencode Gene: ENSG00000111049.4_7Transcript (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
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
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
MalaCards Disease Associations
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
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 - BasicIPR011598 - HLH_domIPR022032 - Myf5Pfam Domains: PF00010 - Helix-loop-helix DNA-binding domainPF01586 - Myogenic Basic domainPF12232 - Myogenic determination factor 5SCOP Domains: 47459 - HLH, helix-loop-helix DNA-binding domainModBase Predicted Comparative 3D Structure on P13349 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.
Gene Ontology (GO) Annotations with Structured Vocabulary
Molecular Function: GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:0001228 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:0003677 DNA bindingGO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:0005515 protein bindingGO:0043565 sequence-specific DNA bindingGO:0046982 protein heterodimerization activityGO:0046983 protein dimerization activityGO:0070888 E-box bindingBiological Process: GO:0001502 cartilage condensationGO:0001503 ossificationGO:0001756 somitogenesisGO:0001952 regulation of cell-matrix adhesionGO:0006351 transcription, DNA-templatedGO:0006355 regulation of transcription, DNA-templatedGO:0006357 regulation of transcription from RNA polymerase II promoterGO:0006366 transcription from RNA polymerase II promoterGO:0007275 multicellular organism developmentGO:0007517 muscle organ developmentGO:0007519 skeletal muscle tissue developmentGO:0030154 cell differentiationGO:0030198 extracellular matrix organizationGO:0035914 skeletal muscle cell differentiationGO:0042693 muscle cell fate commitmentGO:0043010 camera-type eye developmentGO:0045663 positive regulation of myoblast differentiationGO:0045944 positive regulation of transcription from RNA polymerase II promoterGO:0048644 muscle organ morphogenesisGO:0048704 embryonic skeletal system morphogenesisGO:0048743 positive regulation of skeletal muscle fiber developmentGO:0051149 positive regulation of muscle cell differentiationGO:0060415 muscle tissue morphogenesisGO:1901741 positive regulation of myoblast fusionCellular Component: GO:0005634 nucleusGO:0005654 nucleoplasmGO: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
Other Names for This Gene
Alternate Gene Symbols: BHLHC2, ENST00000228644.1, ENST00000228644.2, ENST00000228644.3, MYF5_HUMAN, NM_005593, P13349, Q6ISR9, uc317dok.1, uc317dok.2UCSC ID: ENST00000228644.4_4RefSeq Accession: NM_005593.3 Protein: P13349
(aka MYF5_HUMAN)
Gene Model Information
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Methods, Credits, and Use Restrictions
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US Server
Sequence and Links to Tools and Databases 
Common Gene Haplotype Alleles 
