• Gene id: 1874

Gene Summary

• Gene Symbol: E2F4   Gene   UCSC   Ensembl
• Aliases: E2F-4
• Gene name: E2F transcription factor 4
• Alternate names: transcription factor E2F4, E2F transcription factor 4, p107/p130-binding, p107/p130-binding protein,
• Gene location: 16q22.1 (138139470: 138115174)     Exons: 8     NC_000005.10
• Gene summary(Entrez): The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DN
• OMIM: 600659

Protein Summary

• Protein general information: Q16254  
  • Name: Transcription factor E2F4 (E2F 4)
  • Length: 413  
  • Mass: 43960
  • Tissue specificity: Found in all tissue examined including heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.
• Sequence:

  MAEAGPQAPPPPGTPSRHEKSLGLLTTKFVSLLQEAKDGVLDLKLAADTLAVRQKRRIYDITNVLEGIGLIEKKS
  KNSIQWKGVGPGCNTREIADKLIELKAEIEELQQREQELDQHKVWVQQSIRNVTEDVQNSCLAYVTHEDICRCFA
  GDTLLAIRAPSGTSLEVPIPEGLNGQKKYQIHLKSVSGPIEVLLVNKEAWSSPPVAVPVPPPEDLLQSPSAVSTP
  PPLPKPALAQSQEASRPNSPQLTPTAVPGSAEVQGMAGPAAEITVSGGPGTDSKDSGELSSLPLGPTTLDTRPLQ
  SSALLDSSSSSSSSSSSSSNSNSSSSSGPNPSTSFEPIKADPTGVLELPKELSEIFDPTRECMSSELLEELMSSE
  VFAPLLRLSPPPGDHDYIYNLDESEGVCDLFDVPVLNL

• Structural information:
  • Interpro: IPR015633  IPR037241  IPR028312  IPR032198  IPR003316   IPR036388  IPR036390  
  • CDD: cd14660
  • PDB: 1CF7 5TUU
  • PDBsum: 1CF7 5TUU
  • DIP: 24185
  • STRING: ENSP00000368686
• Other Databases: GeneCards:  E2F4  Malacards:  E2F4

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:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0008134	transcription factor binding	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0003677	DNA binding	IBA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IBA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IBA	cellular component
GO:0051726	regulation of cell cycle	IBA	biological process
GO:0043565	sequence-specific DNA binding	IBA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:1903251	multi-ciliated epithelial cell differentiation	ISS	biological process
GO:0098534	centriole assembly	ISS	biological process
GO:0019904	protein domain specific binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0008134	transcription factor binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0044458	motile cilium assembly	ISS	biological process
GO:0000278	mitotic cell cycle	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0005667	transcription regulator complex	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0030030	cell projection organization	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:1990841	promoter-specific chromatin binding	IDA	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0006977	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0000083	regulation of transcription involved in G1/S transition of mitotic cell cycle	IEA	biological process
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0002064	epithelial cell development	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008015	blood circulation	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0006884	cell volume homeostasis	IEA	biological process
GO:0008361	regulation of cell size	IEA	biological process
GO:0009887	animal organ morphogenesis	IEA	biological process
GO:0042127	regulation of cell population proliferation	IEA	biological process
GO:0060271	cilium assembly	IEA	biological process
GO:0000790	nuclear chromatin	IDA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0003700	DNA-binding transcription factor activity	IDA	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0001216	DNA-binding transcription activator activity	IDA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003677	DNA binding	IMP	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa04218	Cellular senescence
hsa04110	Cell cycle
hsa04350	TGF-beta signaling pathway

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
Hypospermatogenesis	MIK: 28361989
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28361989	Hypospermatogenesis			6 (3 controls, 3 Klienfelter syndrome	Male infertility	Microarray