• Gene id: 84969

Gene Summary

• Gene Symbol: TOX2   Gene   UCSC   Ensembl
• Aliases: C20orf100, GCX-1, GCX1, dJ1108D11.2, dJ495O3.1
• Gene name: TOX high mobility group box family member 2
• Alternate names: TOX high mobility group box family member 2, granulosa cell HMG box 1,
• Gene location: 20q13.12 (43914851: 44069615)     Exons: 12     NC_000020.11

Protein Summary

• Protein general information: Q96NM4  
  • Name: TOX high mobility group box family member 2 (Granulosa cell HMG box protein 1) (GCX 1)
  • Length: 488  
  • Mass: 51604
• Sequence:

  MQQTRTEAVAGAFSRCLGFCGMRLGLLLLARHWCIAGVFPQKFDGDSAYVGMSDGNPELLSTSQTYNGQSENNED
  YEIPPITPPNLPEPSLLHLGDHEASYHSLCHGLTPNGLLPAYSYQAMDLPAIMVSNMLAQDSHLLSGQLPTIQEM
  VHSEVAAYDSGRPGPLLGRPAMLASHMSALSQSQLISQMGIRSSIAHSSPSPPGSKSATPSPSSSTQEEESEVHF
  KISGEKRPSADPGKKAKNPKKKKKKDPNEPQKPVSAYALFFRDTQAAIKGQNPSATFGDVSKIVASMWDSLGEEQ
  KQSSPDQGETKSTQANPPAKMLPPKQPMYAMPGLASFLTPSDLQAFRSGASPASLARTLGSKSLLPGLSASPPPP
  PSFPLSPTLHQQLSLPPHAQGALLSPPVSMSPAPQPPVLPTPMALQVQLAMSPSPPGPQDFPHISEFPSSSGSCS
  PGPSNPTSSGDWDSSYPSGECGISTCSLLPRDKSLYLT

• Structural information:
  • Interpro: IPR009071  IPR036910  
  • Prosite: PS50118
  • STRING: ENSP00000344724
• Other Databases: GeneCards:  TOX2  Malacards:  TOX2

Gene ontology

GO accession	Term name	Evidence code	Go category
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	ISM	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200

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