• Gene id: 55904

Gene Summary

• Gene Symbol: KMT2E   Gene   UCSC   Ensembl
• Aliases: HDCMC04P, MLL5, NKp44L, ODLURO
• Gene name: lysine methyltransferase 2E (inactive)
• Alternate names: inactive histone-lysine N-methyltransferase 2E, histone-lysine N-methyltransferase 2E, histone-lysine N-methyltransferase MLL5, inactive lysine N-methyltransferase 2E, lysine (K)-specific methyltransferase 2E, myeloid/lymphoid or mixed-lineage leukemia 5 (trit,
• Gene location: 7q22.3 (104940948: 105115018)     Exons: 33     NC_000007.14
• Gene summary(Entrez): This gene is a member of the myeloid/lymphoid or mixed-lineage leukemia (MLL) family and encodes a protein with an N-terminal PHD zinc finger and a central SET domain. Overexpression of the protein inhibits cell cycle progression. Alternate transcriptiona
• OMIM: 608444

Protein Summary

• Protein general information: Q8IZD2  
  • Name: Inactive histone lysine N methyltransferase 2E (Inactive lysine N methyltransferase 2E) (Myeloid/lymphoid or mixed lineage leukemia protein 5)
  • Length: 1858  
  • Mass: 204965
  • Tissue specificity: Widely expressed in both adult and fetal tissues (PubMed
• Sequence:

  MSIVIPLGVDTAETSYLEMAAGSEPESVEASPVVVEKSNSYPHQLYTSSSHHSHSYIGLPYADHNYGARPPPTPP
  ASPPPSVLISKNEVGIFTTPNFDETSSATTISTSEDGSYGTDVTRCICGFTHDDGYMICCDKCSVWQHIDCMGID
  RQHIPDTYLCERCQPRNLDKERAVLLQRRKRENMSDGDTSATESGDEVPVELYTAFQHTPTSITLTASRVSKVND
  KRRKKSGEKEQHISKCKKAFREGSRKSSRVKGSAPEIDPSSDGSNFGWETKIKAWMDRYEEANNNQYSEGVQREA
  QRIALRLGNGNDKKEMNKSDLNTNNLLFKPPVESHIQKNKKILKSAKDLPPDALIIEYRGKFMLREQFEANGYFF
  KRPYPFVLFYSKFHGLEMCVDARTFGNEARFIRRSCTPNAEVRHEIQDGTIHLYIYSIHSIPKGTEITIAFDFDY
  GNCKYKVDCACLKENPECPVLKRSSESMENINSGYETRRKKGKKDKDISKEKDTQNQNITLDCEGTTNKMKSPET
  KQRKLSPLRLSVSNNQEPDFIDDIEEKTPISNEVEMESEEQIAERKRKMTREERKMEAILQAFARLEKREKRREQ
  ALERISTAKTEVKTECKDTQIVSDAEVIQEQAKEENASKPTPAKVNRTKQRKSFSRSRTHIGQQRRRHRTVSMCS
  DIQPSSPDIEVTSQQNDIENTVLTIEPETETALAEIITETEVPALNKCPTKYPKTKKHLVNEWLSEKNEKTGKPS
  DGLSERPLRITTDPEVLATQLNSLPGLTYSPHVYSTPKHYIRFTSPFLSEKRRRKEPTENISGSCKKRWLKQALE
  EENSAILHRFNSPCQERSRSPAVNGENKSPLLLNDSCSLPDLTTPLKKRRFYQLLDSVYSETSTPTPSPYATPTH
  TDITPMDPSFATPPRIKSDDETCRNGYKPIYSPVTPVTPGTPGNTMHFENISSPESSPEIKRRTYSQEGYDRSST
  MLTLGPFRNSNLTELGLQEIKTIGYTSPRSRTEVNRQCPGEKEPVSDLQLGLDAVEPTALHKTLETPAHDRAEPN
  SQLDSTHSGRGTMYSSWVKSPDRTGVNFSVNSNLRDLTPSHQLEVGGGFRISESKCLMQDDTRGMFMETTVFCTS
  EDGLVSGFGRTVNDNLIDGNCTPQNPPQKKKVSLLEYRKRQREARKSGSKTENFPLISVSPHASGSLSNNGDGCA
  SSNDNGEQVDHTASLPLPTPATVYNATSEETSNNCPVKDATASEKNEPEVQWTASTSVEQVRERSYQRALLLSDH
  RKDKDSGGESPCVSCSPSHVQSSPSSHSNHIPQLQAKGPVPSFSELMEDPDPENPEPTTTNECPSPDTSQNTCKS
  PPKMSKPGSPGSVIPAQAHGKIFTKPDPQWDSTVSASEAENGVHLKTELQQKQLSNNNQALSKNHPPQTHVRNSS
  EQLSQKLPSVPTKLHCPPSPHLENPPKSSTPHTPVQHGYLSPKPPSQQLGSPYRPHHSQSPQVGTPQREPQRNFY
  PAAQNLPANTQQATSGTLFTQTPSGQSSATYSQFNQQSLNSTAPPPPPPPPPSSSYYQNQQPSANFQNYNQLKGS
  LSQQTVFTSGPNQALPGTTSQQTVPGHHVTPGHFLPSQNPTIHHQTAAAVVPPPPPPPPAPGPHLVQQPNSHQQH
  SVAHVVGPVHAVTPGSHIHSQTAGHHLPPPPPPPGPAPHHHPPPHPSTGLQGLQAQHQHVVNSAPPPPPPPPPSS
  VLASGHHTTSAQALHHPPHQGPPLFPSSAHPTVPPYPSQATHHTTLGPGPQHQPSGTGPHCPLPVTGPHLQPQGP
  NSIPTPTASGFCPHPGSVALPHGVQGPQQASPVPGQIPIHRAQVPPTFQNNYHGSGWH

• Structural information:
  • Protein Domains: (330..44-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00190"-)
  • Interpro: IPR037955  IPR001214  IPR019786  IPR011011  IPR001965   IPR019787  IPR013083  
  • Prosite: PS50280 PS01359 PS50016
  • PDB: 2LV9 4L58 5HT6
  • PDBsum: 2LV9 4L58 5HT6
  • STRING: ENSP00000312379
• Other Databases: GeneCards:  KMT2E  Malacards:  KMT2E

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042119	neutrophil activation	ISS	biological process
GO:0030218	erythrocyte differentiation	ISS	biological process
GO:0006306	DNA methylation	ISS	biological process
GO:0002446	neutrophil mediated immunity	ISS	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0046872	metal ion binding	IEA	molecular function
GO:0007050	cell cycle arrest	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0016020	membrane	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0007049	cell cycle	IEA	biological process
GO:0005694	chromosome	IEA	cellular component
GO:0005856	cytoskeleton	IEA	cellular component
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:0005654	nucleoplasm	TAS	cellular component
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:0005654	nucleoplasm	TAS	cellular component
GO:0005654	nucleoplasm	TAS	cellular component
GO:0045652	regulation of megakaryocyte differentiation	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0042119	neutrophil activation	IEA	biological process
GO:0030218	erythrocyte differentiation	IEA	biological process
GO:0006306	DNA methylation	IEA	biological process
GO:0002446	neutrophil mediated immunity	IEA	biological process
GO:0005654	nucleoplasm	IEA	cellular component
GO:0016607	nuclear speck	IEA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005694	chromosome	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005815	microtubule organizing center	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0016604	nuclear body	IDA	cellular component
GO:0043231	intracellular membrane-bounded organelle	IDA	cellular component
GO:0034968	histone lysine methylation	IEA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0000785	chromatin	IDA	cellular component
GO:0035064	methylated histone binding	IDA	molecular function
GO:0032991	protein-containing complex	IDA	cellular component
GO:0035327	transcriptionally active chromatin	IDA	cellular component
GO:0018024	histone-lysine N-methyltransferase activity	IDA	NOT|molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0032991	protein-containing complex	IDA	cellular component
GO:0035064	methylated histone binding	IMP	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0019899	enzyme binding	IPI	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:1905437	positive regulation of histone H3-K4 trimethylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:1900087	positive regulation of G1/S transition of mitotic cell cycle	IMP	biological process

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Acute promyelocytic leukemia	PMID:24796963
Prostate cancer	PMID:24200674
autistic disorder	PMID:25284784
Breast cancer	PMID:23754336
cervical cancer	PMID:25172963
Aberrant CpGs in Low Motility Sperm	MIK: 21674046
Cryptorchidism	MIK: 28606200
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)
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq