• Gene id: 54093

Gene Summary

• Gene Symbol: SETD4   Gene   UCSC   Ensembl
• Aliases: C21orf18, C21orf27
• Gene name: SET domain containing 4
• Alternate names: SET domain-containing protein 4,
• Gene location: 21q22.12 (36061036: 36034540)     Exons: 17     NC_000021.9

Protein Summary

• Protein general information: Q9NVD3  
  • Name: SET domain containing protein 4 (EC 2.1.1. )
  • Length: 440  
  • Mass: 50416
• Sequence:

  MQKGKGRTSRIRRRKLCGSSESRGVNESHKSEFIELRKWLKARKFQDSNLAPACFPGTGRGLMSQTSLQEGQMII
  SLPESCLLTTDTVIRSYLGAYITKWKPPPSPLLALCTFLVSEKHAGHRSLWKPYLEILPKAYTCPVCLEPEVVNL
  LPKSLKAKAEEQRAHVQEFFASSRDFFSSLQPLFAEAVDSIFSYSALLWAWCTVNTRAVYLRPRQRECLSAEPDT
  CALAPYLDLLNHSPHVQVKAAFNEETHSYEIRTTSRWRKHEEVFICYGPHDNQRLFLEYGFVSVHNPHACVYVSR
  EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRLLTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTS
  LDIAQKICYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELKILRASAETLHSLQTAFT

• Structural information:
  • Protein Domains: (48..27-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR015353  IPR036464  IPR001214  IPR016852  
  • Prosite: PS50280
  • STRING: ENSP00000382163
• Other Databases: GeneCards:  SETD4  Malacards:  SETD4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0018026	peptidyl-lysine monomethylation	IBA	biological process
GO:0016279	protein-lysine N-methyltransferase activity	IBA	molecular function
GO:0005829	cytosol	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
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)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)