• Gene id: 22936

Gene Summary

• Gene Symbol: ELL2   Gene   UCSC   Ensembl
• Aliases: MRCCAT1
• Gene name: elongation factor for RNA polymerase II 2
• Alternate names: RNA polymerase II elongation factor ELL2, ELL-related RNA polymerase II, elongation factor, elongation factor RNA for polymerase II 2, elongation factor, RNA polymerase II, 2, metastatic renal cell carcinoma-associated transcript 1,
• Gene location: 5q15 (95961961: 95885097)     Exons: 15     NC_000005.10
• OMIM: 601874

Protein Summary

• Protein general information: O00472  
  • Name: RNA polymerase II elongation factor ELL2
  • Length: 640  
  • Mass: 72324
• Sequence:

  MAAGGTGGLREEQRYGLSCGRLGQDNITVLHVKLTETAIRALETYQSHKNLIPFRPSIQFQGLHGLVKIPKNDPL
  NEVHNFNFYLSNVGKDNPQGSFDCIQQTFSSSGASQLNCLGFIQDKITVCATNDSYQMTRERMTQAEEESRNRST
  KVIKPGGPYVGKRVQIRKAPQAVSDTVPERKRSTPMNPANTIRKTHSSSTISQRPYRDRVIHLLALKAYKKPELL
  ARLQKDGVNQKDKNSLGAILQQVANLNSKDLSYTLKDYVFKELQRDWPGYSEIDRRSLESVLSRKLNPSQNAAGT
  SRSESPVCSSRDAVSSPQKRLLDSEFIDPLMNKKARISHLTNRVPPTLNGHLNPTSEKSAAGLPLPPAAAAIPTP
  PPLPSTYLPISHPPQIVNSNSNSPSTPEGRGTQDLPVDSFSQNDSIYEDQQDKYTSRTSLETLPPGSVLLKCPKP
  MEENHSMSHKKSKKKSKKHKEKDQIKKHDIETIEEKEEDLKREEEIAKLNNSSPNSSGGVKEDCTASMEPSAIEL
  PDYLIKYIAIVSYEQRQNYKDDFNAEYDEYRALHARMETVARRFIKLDAQRKRLSPGSKEYQNVHEEVLQEYQKI
  KQSSPNYHEEKYRCEYLHNKLAHIKRLIGEFDQQQAESWS

• Structural information:
  • Interpro: IPR042065  IPR031176  IPR031179  IPR019464  IPR010844   IPR036390  
  • PDB: 2E5N 5JW9
  • PDBsum: 2E5N 5JW9
  • STRING: ENSP00000237853
• Other Databases: GeneCards:  ELL2  Malacards:  ELL2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0008023	transcription elongation factor complex	IDA	cellular component
GO:0042795	snRNA transcription by RNA polymerase II	IMP	biological process
GO:0008023	transcription elongation factor complex	IEA	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0008023	transcription elongation factor complex	TAS	cellular component
GO:0006368	transcription elongation from RNA polymerase II promoter	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:0042795	snRNA transcription by RNA polymerase II	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:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component

Diseases

Associated diseases	References
Spermatogenic defects	MIK: 31037746
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
31037746	Spermatogenic defects			28 men with azoospermia	Male infertility	Microarray