• Gene id: 9757

Gene Summary

• Gene Symbol: KMT2B   Gene   UCSC   Ensembl
• Aliases: CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, TRX2, WBP-7, WBP7
• Gene name: lysine methyltransferase 2B
• Alternate names: histone-lysine N-methyltransferase 2B, WW domain binding protein 7, histone-lysine N-methyltransferase MLL4, lysine (K)-specific methyltransferase 2B, mixed lineage leukemia gene homolog 2, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosoph,
• Gene location: 19q13.12 (35717817: 35738877)     Exons: 38     NC_000019.10
• Gene summary(Entrez): This gene encodes a protein which contains multiple domains including a CXXC zinc finger, three PHD zinc fingers, two FY-rich domains, and a SET (suppressor of variegation, enhancer of zeste, and trithorax) domain. The SET domain is a conserved C-terminal
• OMIM: 300838

Protein Summary

• Protein general information: Q9UMN6  
  • Name: Histone lysine N methyltransferase 2B (Lysine N methyltransferase 2B) (EC 2.1.1.354) (Myeloid/lymphoid or mixed lineage leukemia protein 4) (Trithorax homolog 2) (WW domain binding protein 7) (WBP 7)
  • Length: 2715  
  • Mass: 293515
  • Tissue specificity: Widely expressed. Highest levels in testis. Also found in brain with higher expression in the cerebellum than in any other region, bone marrow, heart, muscle, kidney, placenta, spleen, thymus, prostate, ovary, intestine, colon, periphe
• Sequence:

  MAAAAGGGSCPGPGSARGRFPGRPRGAGGGGGRGGRGNGAERVRVALRRGGGATGPGGAEPGEDTALLRLLGLRR
  GLRRLRRLWAGPRVQRGRGRGRGRGWGPSRGCVPEEESSDGESDEEEFQGFHSDEDVAPSSLRSALRSQRGRAPR
  GRGRKHKTTPLPPPRLADVAPTPPKTPARKRGEEGTERMVQALTELLRRAQAPQAPRSRACEPSTPRRSRGRPPG
  RPAGPCRRKQQAVVVAEAAVTIPKPEPPPPVVPVKHQTGSWKCKEGPGPGPGTPRRGGQSSRGGRGGRGRGRGGG
  LPFVIKFVSRAKKVKMGQLSLGLESGQGQGQHEESWQDVPQRRVGSGQGGSPCWKKQEQKLDDEEEEKKEEEEKD
  KEGEEKEERAVAEEMMPAAEKEEAKLPPPPLTPPAPSPPPPLPPPSTSPPPPLCPPPPPPVSPPPLPSPPPPPAQ
  EEQEESPPPVVPATCSRKRGRPPLTPSQRAEREAARAGPEGTSPPTPTPSTATGGPPEDSPTVAPKSTTFLKNIR
  QFIMPVVSARSSRVIKTPRRFMDEDPPKPPKVEVSPVLRPPITTSPPVPQEPAPVPSPPRAPTPPSTPVPLPEKR
  RSILREPTFRWTSLTRELPPPPPAPPPPPAPSPPPAPATSSRRPLLLRAPQFTPSEAHLKIYESVLTPPPLGAPE
  APEPEPPPADDSPAEPEPRAVGRTNHLSLPRFAPVVTTPVKAEVSPHGAPALSNGPQTQAQLLQPLQALQTQLLP
  QALPPPQPQLQPPPSPQQMPPLEKARIAGVGSLPLSGVEEKMFSLLKRAKVQLFKIDQQQQQKVAASMPLSPGGQ
  MEEVAGAVKQISDRGPVRSEDESVEAKRERPSGPESPVQGPRIKHVCRHAAVALGQARAMVPEDVPRLSALPLRD
  RQDLATEDTSSASETESVPSRSRRGKVEAAGPGGESEPTGSGGTLAHTPRRSLPSHHGKKMRMARCGHCRGCLRV
  QDCGSCVNCLDKPKFGGPNTKKQCCVYRKCDKIEARKMERLAKKGRTIVKTLLPWDSDESPEASPGPPGPRRGAG
  AGGPREEVVAHPGPEEQDSLLQRKSARRCVKQRPSYDIFEDSDDSEPGGPPAPRRRTPRENELPLPEPEEQSRPR
  KPTLQPVLQLKARRRLDKDALAPGPFASFPNGWTGKQKSPDGVHRVRVDFKEDCDLENVWLMGGLSVLTSVPGGP
  PMVCLLCASKGLHELVFCQVCCDPFHPFCLEEAERPLPQHHDTWCCRRCKFCHVCGRKGRGSKHLLECERCRHAY
  HPACLGPSYPTRATRKRRHWICSACVRCKSCGATPGKNWDVEWSGDYSLCPRCTQLYEKGNYCPICTRCYEDNDY
  ESKMMQCAQCDHWVHAKCEGLSDEDYEILSGLPDSVLYTCGPCAGAAQPRWREALSGALQGGLRQVLQGLLSSKV
  VGPLLLCTQCGPDGKQLHPGPCGLQAVSQRFEDGHYKSVHSFMEDMVGILMRHSEEGETPDRRAGGQMKGLLLKL
  LESAFGWFDAHDPKYWRRSTRLPNGVLPNAVLPPSLDHVYAQWRQQEPETPESGQPPGDPSAAFQGKDPAAFSHL
  EDPRQCALCLKYGDADSKEAGRLLYIGQNEWTHVNCAIWSAEVFEENDGSLKNVHAAVARGRQMRCELCLKPGAT
  VGCCLSSCLSNFHFMCARASYCIFQDDKKVFCQKHTDLLDGKEIVNPDGFDVLRRVYVDFEGINFKRKFLTGLEP
  DAINVLIGSIRIDSLGTLSDLSDCEGRLFPIGYQCSRLYWSTVDARRRCWYRCRILEYRPWGPREEPAHLEAAEE
  NQTIVHSPAPSSEPPGGEDPPLDTDVLVPGAPERHSPIQNLDPPLRPDSGSAPPPAPRSFSGARIKVPNYSPSRR
  PLGGVSFGPLPSPGSPSSLTHHIPTVGDPDFPAPPRRSRRPSPLAPRPPPSRWASPPLKTSPQLRVPPPTSVVTA
  LTPTSGELAPPGPAPSPPPPEDLGPDFEDMEVVSGLSAADLDFAASLLGTEPFQEEIVAAGAMGSSHGGPGDSSE
  EESSPTSRYIHFPVTVVSAPGLAPSATPGAPRIEQLDGVDDGTDSEAEAVQQPRGQGTPPSGPGVVRAGVLGAAG
  DRARPPEDLPSEIVDFVLKNLGGPGDGGAGPREESLPPAPPLANGSQPSQGLTASPADPTRTFAWLPGAPGVRVL
  SLGPAPEPPKPATSKIILVNKLGQVFVKMAGEGEPVPPPVKQPPLPPTISPTAPTSWTLPPGPLLGVLPVVGVVR
  PAPPPPPPPLTLVLSSGPASPPRQAIRVKRVSTFSGRSPPAPPPYKAPRLDEDGEASEDTPQVPGLGSGGFSRVR
  MKTPTVRGVLDLDRPGEPAGEESPGPLQERSPLLPLPEDGPPQVPDGPPDLLLESQWHHYSGEASSSEEEPPSPD
  DKENQAPKRTGPHLRFEISSEDGFSVEAESLEGAWRTLIEKVQEARGHARLRHLSFSGMSGARLLGIHHDAVIFL
  AEQLPGAQRCQHYKFRYHQQGEGQEEPPLNPHGAARAEVYLRKCTFDMFNFLASQHRVLPEGATCDEEEDEVQLR
  STRRATSLELPMAMRFRHLKKTSKEAVGVYRSAIHGRGLFCKRNIDAGEMVIEYSGIVIRSVLTDKREKFYDGKG
  IGCYMFRMDDFDVVDATMHGNAARFINHSCEPNCFSRVIHVEGQKHIVIFALRRILRGEELTYDYKFPIEDASNK
  LPCNCGAKRCRRFLN

• Structural information:
  • Protein Domains: (1727..178-)
    (/note="FYR-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00875-)
    (2411..249-)
    (/note="FYR-C-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00876-)
    (2575..269-)
    (/note="SET-)
    (/evidence="ECO:0000255|PROSITE--)
  • Interpro: IPR036427  IPR034732  IPR003889  IPR003888  IPR041959   IPR016569  IPR003616  IPR001214  IPR002857  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS51805 PS51543 PS51542 PS50868 PS50280 PS51058 PS01359 PS50016
  • CDD: cd15694
  • PDB: 3UVM 4ERZ 4PZI
  • PDBsum: 3UVM 4ERZ 4PZI
  • DIP: 34598
  • STRING: ENSP00000398837
• Other Databases: GeneCards:  KMT2B  Malacards:  KMT2B

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0097692	histone H3-K4 monomethylation	IDA	biological process
GO:0044648	histone H3-K4 dimethylation	IDA	biological process
GO:0051568	histone H3-K4 methylation	IBA	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IBA	biological process
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IBA	molecular function
GO:0035097	histone methyltransferase complex	IBA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0045322	unmethylated CpG binding	IDA	molecular function
GO:0051568	histone H3-K4 methylation	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0008270	zinc ion binding	IEA	molecular function
GO:0035097	histone methyltransferase complex	IEA	cellular component
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0051568	histone H3-K4 methylation	IEA	biological process
GO:0016740	transferase activity	IEA	molecular function
GO:0046872	metal ion binding	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	molecular function
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0005634	nucleus	IDA	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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0080182	histone H3-K4 trimethylation	IEA	biological process
GO:0030728	ovulation	IEA	biological process
GO:0016458	gene silencing	IEA	biological process
GO:0009994	oocyte differentiation	IEA	biological process
GO:0007613	memory	IEA	biological process
GO:0001541	ovarian follicle development	IEA	biological process
GO:0051569	regulation of histone H3-K4 methylation	IEA	biological process
GO:0034968	histone lysine methylation	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0048096	chromatin-mediated maintenance of transcription	NAS	biological process
GO:0003700	DNA-binding transcription factor activity	NAS	molecular function

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa00310	Lysine degradation

Diseases

Associated diseases	References
Primary dystonia	KEGG:H00831
Follicular lymphoma	KEGG:H01613
Primary dystonia	KEGG:H00831
Follicular lymphoma	KEGG:H01613
colorectal adenocarcinoma	PMID:22713656
Prostate cancer	PMID:24200674
Breast cancer	PMID:24491801
hepatocellular carcinoma	PMID:18320596
Cryptorchidism	MIK: 28606200

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq