• Gene id: 6939

Gene Summary

• Gene Symbol: TCF15   Gene   UCSC   Ensembl
• Aliases: EC2, PARAXIS, bHLHa40
• Gene name: transcription factor 15
• Alternate names: transcription factor 15, TCF-15, basic helix-loop-helix transcription factor 15, class A basic helix-loop-helix protein 40, protein bHLH-EC2, transcription factor 15 (basic helix-loop-helix),
• Gene location: 20p13 (610265: 603992)     Exons: 2     NC_000020.11
• Gene summary(Entrez): The protein encoded by this gene is found in the nucleus and may be involved in the early transcriptional regulation of patterning of the mesoderm. The encoded basic helix-loop-helix protein requires dimerization with another basic helix-loop-helix protei
• OMIM: 605816

Protein Summary

• Protein general information: Q12870  
  • Name: Transcription factor 15 (TCF 15) (Class A basic helix loop helix protein 40) (bHLHa40) (Paraxis) (Protein bHLH EC2)
  • Length: 199  
  • Mass: 20816
• Sequence:

  MAFALLRPVGAHVLYPDVRLLSEDEENRSESDASDQSFGCCEGPEAARRGPGPGGGRRAGGGGGAGPVVVVRQRQ
  AANARERDRTQSVNTAFTALRTLIPTEPVDRKLSKIETVRLASSYIAHLANVLLLGDSADDGQPCFRAAGSAKGA
  VPAAADGGRQPRSICTFCLSNQRKGGGRRDLGGSCLKVRGVAPLRGPRR

• Structural information:
  • Protein Domains: (72..12-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • STRING: ENSP00000246080
• Other Databases: GeneCards:  TCF15  Malacards:  TCF15

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IBA	molecular function
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0007275	multicellular organism development	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0003700	DNA-binding transcription factor activity	TAS	molecular function
GO:0007498	mesoderm development	TAS	biological process
GO:0006357	regulation of transcription by RNA polymerase II	TAS	biological process
GO:1903053	regulation of extracellular matrix organization	IEA	biological process
GO:0050884	neuromuscular process controlling posture	IEA	biological process
GO:0048339	paraxial mesoderm development	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0045198	establishment of epithelial cell apical/basal polarity	IEA	biological process
GO:0043588	skin development	IEA	biological process
GO:0043583	ear development	IEA	biological process
GO:0010468	regulation of gene expression	IEA	biological process
GO:0001756	somitogenesis	IEA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IEA	cellular component
GO:0060231	mesenchymal to epithelial transition	IEA	biological process
GO:0048705	skeletal system morphogenesis	IEA	biological process
GO:0048644	muscle organ morphogenesis	IEA	biological process
GO:0042755	eating behavior	IEA	biological process
GO:0036342	post-anal tail morphogenesis	IEA	biological process
GO:0009952	anterior/posterior pattern specification	IEA	biological process
GO:0007517	muscle organ development	IEA	biological process
GO:0003016	respiratory system process	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray