• Gene id: 83852

Gene Summary

• Gene Symbol: SETDB2   Gene   UCSC   Ensembl
• Aliases: C13orf4, CLLD8, CLLL8, KMT1F
• Gene name: SET domain bifurcated histone lysine methyltransferase 2
• Alternate names: histone-lysine N-methyltransferase SETDB2, SET domain bifurcated 2, chronic lymphocytic leukemia deletion region gene 8 protein, lysine N-methyltransferase 1F,
• Gene location: 13q14.2 (49444273: 49495002)     Exons: 15     NC_000013.11
• Gene summary(Entrez): This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome se
• OMIM: 607865

Protein Summary

• Protein general information: Q96T68  
  • Name: Histone lysine N methyltransferase SETDB2 (EC 2.1.1. ) (Chronic lymphocytic leukemia deletion region gene 8 protein) (Lysine N methyltransferase 1F) (SET domain bifurcated 2)
  • Length: 719  
  • Mass: 81894
  • Tissue specificity: Ubiquitous. Highest expression in heart, testis and ovary.
• Sequence:

  MGEKNGDAKTFWMELEDDGKVDFIFEQVQNVLQSLKQKIKDGSATNKEYIQAMILVNEATIINSSTSIKGASQKE
  VNAQSSDPMPVTQKEQENKSNAFPSTSCENSFPEDCTFLTTENKEILSLEDKVVDFREKDSSSNLSYQSHDCSGA
  CLMKMPLNLKGENPLQLPIKCHFQRRHAKTNSHSSALHVSYKTPCGRSLRNVEEVFRYLLETECNFLFTDNFSFN
  TYVQLARNYPKQKEVVSDVDISNGVESVPISFCNEIDSRKLPQFKYRKTVWPRAYNLTNFSSMFTDSCDCSEGCI
  DITKCACLQLTARNAKTSPLSSDKITTGYKYKRLQRQIPTGIYECSLLCKCNRQLCQNRVVQHGPQVRLQVFKTE
  QKGWGVRCLDDIDRGTFVCIYSGRLLSRANTEKSYGIDENGRDENTMKNIFSKKRKLEVACSDCEVEVLPLGLET
  HPRTAKTEKCPPKFSNNPKELTVETKYDNISRIQYHSVIRDPESKTAIFQHNGKKMEFVSSESVTPEDNDGFKPP
  REHLNSKTKGAQKDSSSNHVDEFEDNLLIESDVIDITKYREETPPRSRCNQATTLDNQNIKKAIEVQIQKPQEGR
  STACQRQQVFCDEELLSETKNTSSDSLTKFNKGNVFLLDATKEGNVGRFLNHSCCPNLLVQNVFVETHNRNFPLV
  AFFTNRYVKARTELTWDYGYEAGTVPEKEIFCQCGVNKCRKKIL

• Structural information:
  • Protein Domains: (157..22-)
    (/note="MBD-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00338-)
    (291..36-)
    (/note="Pre-SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00157-)
    (367..69-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR016177  IPR001739  IPR007728  IPR001214  
  • Prosite: PS50982 PS50867 PS50280
  • PDB: 5TFP
  • PDBsum: 5TFP
  • STRING: ENSP00000346175
• Other Databases: GeneCards:  SETDB2  Malacards:  SETDB2

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0005634	nucleus	IBA	cellular component
GO:0010629	negative regulation of gene expression	IBA	biological process
GO:0051567	histone H3-K9 methylation	IBA	biological process
GO:0070828	heterochromatin organization	IBA	biological process
GO:0090309	positive regulation of DNA methylation-dependent heterochromatin assembly	IBA	biological process
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IBA	molecular function
GO:0046974	histone methyltransferase activity (H3-K9 specific)	IDA	molecular function
GO:0051567	histone H3-K9 methylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0045892	negative regulation of transcription, DNA-templated	ISS	biological process
GO:0000278	mitotic cell cycle	IMP	biological process
GO:0001947	heart looping	ISS	biological process
GO:0070986	left/right axis specification	ISS	biological process
GO:0007059	chromosome segregation	IMP	biological process
GO:0008270	zinc ion binding	IEA	molecular function
GO:0018024	histone-lysine N-methyltransferase activity	IEA	molecular function
GO:0042025	host cell nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0034968	histone lysine methylation	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0051301	cell division	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881