• Gene id: 84787

Gene Summary

• Gene Symbol: KMT5C   Gene   UCSC   Ensembl
• Aliases: SUV420H2, Suv4-20h2
• Gene name: lysine methyltransferase 5C
• Alternate names: histone-lysine N-methyltransferase KMT5C, [histone H4]-N-methyl-L-lysine20 N-methyltransferase KMT5B, [histone H4]-lysine20 N-methyltransferase KMT5B, histone-lysine N-methyltransferase SUV420H2, lysine (K)-specific methyltransferase 5C, lysine N-methyltransfe,
• Gene location: 19q13.42 (55339875: 55348120)     Exons: 11     NC_000019.10
• Gene summary(Entrez): SUV420H2 and the related enzyme SUV420H1 (MIM 610881) function as histone methyltransferases that specifically trimethylate nucleosomal histone H4 (see MIM 602822) on lysine-20 (K20) (Schotta et al., 2004 [PubMed 15145825]).[supplied by OMIM, Dec 2009]
• OMIM: 604649

Protein Summary

• Protein general information: Q86Y97  
  • Name: Histone lysine N methyltransferase KMT5C (Lysine N methyltransferase 5C) (Lysine specific methyltransferase 5C) (Suppressor of variegation 4 20 homolog 2) (Su(var)4 20 homolog 2) (Suv4 20h2) ([histone H4] N methyl L lysine20 N methyltransferase KMT5B) (EC
  • Length: 462  
  • Mass: 52113
• Sequence:

  MGPDRVTARELCENDDLATSLVLDPYLGFRTHKMNVSPVPPLRRQQHLRSALETFLRQRDLEAAYRALTLGGWTA
  RYFQSRGPRQEAALKTHVYRYLRAFLPESGFTILPCTRYSMETNGAKIVSTRAWKKNEKLELLVGCIAELREADE
  GLLRAGENDFSIMYSTRKRSAQLWLGPAAFINHDCKPNCKFVPADGNAACVKVLRDIEPGDEVTCFYGEGFFGEK
  NEHCECHTCERKGEGAFRTRPREPALPPRPLDKYQLRETKRRLQQGLDSGSRQGLLGPRACVHPSPLRRDPFCAA
  CQPLRLPACSARPDTSPLWLQWLPQPQPRVRPRKRRRPRPRRAPVLSTHHAARVSLHRWGGCGPHCRLRGEALVA
  LGQPPHARWAPQQDWHWARRYGLPYVVRVDLRRLAPAPPATPAPAGTPGPILIPKQALAFAPFSPPKRLRLVVSH
  GSIDLDVGGEEL

• Structural information:
  • Protein Domains: (104..21-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR041938  IPR025790  IPR039977  IPR001214  
  • Prosite: PS51570 PS50280
  • PDB: 3RQ4
  • PDBsum: 3RQ4
  • STRING: ENSP00000255613
• Other Databases: GeneCards:  KMT5C  Malacards:  KMT5C

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0034773	histone H4-K20 trimethylation	IBA	biological process
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IBA	molecular function
GO:0005634	nucleus	IBA	cellular component
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IDA	molecular function
GO:0003682	chromatin binding	IDA	molecular function
GO:1904047	S-adenosyl-L-methionine binding	IDA	molecular function
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IDA	molecular function
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IMP	molecular function
GO:0006281	DNA repair	IMP	biological process
GO:2001034	positive regulation of double-strand break repair via nonhomologous end joining	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045830	positive regulation of isotype switching	ISS	biological process
GO:0034773	histone H4-K20 trimethylation	IEA	biological process
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0006325	chromatin organization	IEA	biological process
GO:0032259	methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0042799	histone methyltransferase activity (H4-K20 specific)	IEA	molecular function
GO:0042393	histone binding	IEA	molecular function
GO:0034773	histone H4-K20 trimethylation	IEA	biological process
GO:0016571	histone methylation	IEA	biological process
GO:0045830	positive regulation of isotype switching	IEA	biological process
GO:0000780	condensed nuclear chromosome, centromeric region	IEA	cellular component
GO:0005721	pericentric heterochromatin	IDA	cellular component
GO:0005720	nuclear heterochromatin	IDA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	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
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq