• Gene id: 51513

Gene Summary

• Gene Symbol: ETV7   Gene   UCSC   Ensembl
• Aliases: TEL-2, TEL2, TELB
• Gene name: ETS variant transcription factor 7
• Alternate names: transcription factor ETV7, ETS translocation variant 7, ETS variant 7, ETS-related protein Tel2, Ets transcription factor TEL-2b, TEL2 oncogene, ets variant gene 7 (TEL2 oncogene), tel-related Ets factor,
• Gene location: 6p21.31 (36387799: 36354087)     Exons: 10     NC_000006.12
• Gene summary(Entrez): The protein encoded by this gene belongs to the ETS family of transcription factors, which is a large group of evolutionarily conserved transcriptional regulators that play an important role in a variety of cellular processes throughout development and di
• OMIM: 605989

Protein Summary

• Protein general information: Q9Y603  
  • Name: Transcription factor ETV7 (ETS translocation variant 7) (ETS related protein Tel2) (Tel related Ets factor) (Transcription factor Tel 2)
  • Length: 341  
  • Mass: 38998
  • Tissue specificity: Expressed in hematopoietic tissues.
• Sequence:

  MQEGELAISPISPVAAMPPLGTHVQARCEAQINLLGEGGICKLPGRLRIQPALWSREDVLHWLRWAEQEYSLPCT
  AEHGFEMNGRALCILTKDDFRHRAPSSGDVLYELLQYIKTQRRALVCGPFFGGIFRLKTPTQHSPVPPEEVTGPS
  QMDTRRGHLLQPPDPGLTSNFGHLDDPGLARWTPGKEESLNLCHCAELGCRTQGVCSFPAMPQAPIDGRIADCRL
  LWDYVYQLLLDTRYEPYIKWEDKDAKIFRVVDPNGLARLWGNHKNRVNMTYEKMSRALRHYYKLNIIKKEPGQKL
  LFRFLKTPGKMVQDKHSHLEPLESQEQDRIEFKDKRPEISP

• Structural information:
  • Protein Domains: (33..11-)
    (/note="PNT-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00762"-)
  • Interpro: IPR000418  IPR003118  IPR013761  IPR036388  IPR036390  
  • Prosite: PS00346 PS50061 PS51433
  • STRING: ENSP00000341843
• Other Databases: GeneCards:  ETV7  Malacards:  ETV7

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001227	DNA-binding transcription repressor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000122	negative regulation of transcription by RNA polymerase II	IDA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000977	RNA polymerase II transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
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:0005634	nucleus	TAS	cellular component
GO:0006366	transcription by RNA polymerase II	TAS	biological process
GO:0009887	animal organ morphogenesis	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05202	Transcriptional misregulation in cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Spermatogenic defects	MIK: 31037746

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
31037746	Spermatogenic defects			16 (1 control, 15 cases)	Male infertility	GSE6023 analyzed using GEO2R