• Gene id: 2116

Gene Summary

• Gene Symbol: ETV2   Gene   UCSC   Ensembl
• Aliases: ER71, ETSRP71
• Gene name: ETS variant transcription factor 2
• Alternate names: ETS translocation variant 2, ETS variant 2, ets variant gene 2, ets-related protein 71,
• Gene location: 19q13.12 (35641174: 35644870)     Exons: 7     NC_000019.10
• OMIM: 609358

Protein Summary

• Protein general information: O00321  
  • Name: ETS translocation variant 2 (Ets related protein 71)
  • Length: 342  
  • Mass: 36633
• Sequence:

  MDLWNWDEASPQEVPPGNKLAGLEGAKLGFCFPDLALQGDTPTATAETCWKGTSSSLASFPQLDWGSALLHPEVP
  WGAEPDSQALPWSGDWTDMACTAWDSWSGASQTLGPAPLGPGPIPAAGSEGAAGQNCVPVAGEATSWSRAQAAGS
  NTSWDCSVGPDGDTYWGSGLGGEPRTDCTISWGGPAGPDCTTSWNPGLHAGGTTSLKRYQSSALTVCSEPSPQSD
  RASLARCPKTNHRGPIQLWQFLLELLHDGARSSCIRWTGNSREFQLCDPKEVARLWGERKRKPGMNYEKLSRGLR
  YYYRRDIVRKSGGRKYTYRFGGRVPSLAYPDCAGGGRGAETQ

• Structural information:
  • Interpro: IPR000418  IPR036388  IPR036390  
  • Prosite: PS00345 PS00346 PS50061
  • STRING: ENSP00000384524
• Other Databases: GeneCards:  ETV2  Malacards:  ETV2

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:0030154	cell differentiation	IBA	biological process
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:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0001824	blastocyst development	IEA	biological process
GO:0001890	placenta development	IEA	biological process
GO:0007219	Notch signaling pathway	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0045603	positive regulation of endothelial cell differentiation	IEA	biological process
GO:0048514	blood vessel morphogenesis	IEA	biological process
GO:2000382	positive regulation of mesoderm development	IEA	biological process
GO:0001701	in utero embryonic development	IEA	biological process
GO:0001707	mesoderm formation	IEA	biological process
GO:0030097	hemopoiesis	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0060803	BMP signaling pathway involved in mesodermal cell fate specification	IEA	biological process
GO:0005634	nucleus	IEA	cellular component

Diseases

Associated diseases	References
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)