• Gene id: 133383

Gene Summary

• Gene Symbol: SETD9   Gene   UCSC   Ensembl
• Aliases: C5orf35
• Gene name: SET domain containing 9
• Alternate names: SET domain-containing protein 9,
• Gene location: 5q11.2 (73787873: 73865132)     Exons: 12     NC_000011.10

Protein Summary

• Protein general information: Q8NE22  
  • Name: SET domain containing protein 9 (EC 2.1.1. )
  • Length: 299  
  • Mass: 34095
• Sequence:

  MPGRLLRGLWQRWRRYKYRFVPWIALNLSHNPRTLRYVPEESKDKVISDEDVLGTLLKVFQALFLNDFNKQSEIL
  SMLPESVKSKYQDLLAVEHQGVKLLENRHQQQSTFKPEEILYKTLGFSVAQATSSLISAGKGVFVTKGLVPKGAV
  VSMYPGTVYQKYEPIFFQSIGNPFIFRCLDGVLIDGNDKGISKVVYRSCNGRDRLGPLKMSDSTWLTSEIHNPLA
  VGQYVNNCSNDRAANVCYQEFDVPAVFPIELKQYLPNIAYSYDKQSPLRCVVLVALRDINQGEELFSNYYTIVS

• Structural information:
  • Protein Domains: (122..29-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR001214  IPR040415  
  • Prosite: PS50280
  • STRING: ENSP00000285947
• Other Databases: GeneCards:  SETD9  Malacards:  SETD9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0032259	methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0016278	lysine N-methyltransferase activity	TAS	molecular function
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)