• Gene id: 4297

Gene Summary

• Gene Symbol: KMT2A   Gene   UCSC   Ensembl
• Aliases: ALL-1, CXXC7, HRX, HTRX1, MLL, MLL1, MLL1A, TRX1, WDSTS
• Gene name: lysine methyltransferase 2A
• Alternate names: histone-lysine N-methyltransferase 2A, CXXC-type zinc finger protein 7, lysine (K)-specific methyltransferase 2A, lysine N-methyltransferase 2A, mixed lineage leukemia 1, myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila), trithorax-like,
• Gene location: 11q23.3 (118436491: 118526831)     Exons: 11     NC_000011.10
• Gene summary(Entrez): This gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain
• OMIM: 159555

Protein Summary

• Protein general information: Q03164  
  • Name: Histone lysine N methyltransferase 2A (Lysine N methyltransferase 2A) (EC 2.1.1.354) (ALL 1) (CXXC type zinc finger protein 7) (Myeloid/lymphoid or mixed lineage leukemia) (Myeloid/lymphoid or mixed lineage leukemia protein 1) (Trithorax like protein) (Zi
  • Length: 3969  
  • Mass: 431764
  • Tissue specificity: Heart, lung, brain and T- and B-lymphocytes.
• Sequence:

  MAHSCRWRFPARPGTTGGGGGGGRRGLGGAPRQRVPALLLPPGPPVGGGGPGAPPSPPAVAAAAAAAGSSGAGVP
  GGAAAASAASSSSASSSSSSSSSASSGPALLRVGPGFDAALQVSAAIGTNLRRFRAVFGESGGGGGSGEDEQFLG
  FGSDEEVRVRSPTRSPSVKTSPRKPRGRPRSGSDRNSAILSDPSVFSPLNKSETKSGDKIKKKDSKSIEKKRGRP
  PTFPGVKIKITHGKDISELPKGNKEDSLKKIKRTPSATFQQATKIKKLRAGKLSPLKSKFKTGKLQIGRKGVQIV
  RRRGRPPSTERIKTPSGLLINSELEKPQKVRKDKEGTPPLTKEDKTVVRQSPRRIKPVRIIPSSKRTDATIAKQL
  LQRAKKGAQKKIEKEAAQLQGRKVKTQVKNIRQFIMPVVSAISSRIIKTPRRFIEDEDYDPPIKIARLESTPNSR
  FSAPSCGSSEKSSAASQHSSQMSSDSSRSSSPSVDTSTDSQASEEIQVLPEERSDTPEVHPPLPISQSPENESND
  RRSRRYSVSERSFGSRTTKKLSTLQSAPQQQTSSSPPPPLLTPPPPLQPASSISDHTPWLMPPTIPLASPFLPAS
  TAPMQGKRKSILREPTFRWTSLKHSRSEPQYFSSAKYAKEGLIRKPIFDNFRPPPLTPEDVGFASGFSASGTAAS
  ARLFSPLHSGTRFDMHKRSPLLRAPRFTPSEAHSRIFESVTLPSNRTSAGTSSSGVSNRKRKRKVFSPIRSEPRS
  PSHSMRTRSGRLSSSELSPLTPPSSVSSSLSISVSPLATSALNPTFTFPSHSLTQSGESAEKNQRPRKQTSAPAE
  PFSSSSPTPLFPWFTPGSQTERGRNKDKAPEELSKDRDADKSVEKDKSRERDREREKENKRESRKEKRKKGSEIQ
  SSSALYPVGRVSKEKVVGEDVATSSSAKKATGRKKSSSHDSGTDITSVTLGDTTAVKTKILIKKGRGNLEKTNLD
  LGPTAPSLEKEKTLCLSTPSSSTVKHSTSSIGSMLAQADKLPMTDKRVASLLKKAKAQLCKIEKSKSLKQTDQPK
  AQGQESDSSETSVRGPRIKHVCRRAAVALGRKRAVFPDDMPTLSALPWEEREKILSSMGNDDKSSIAGSEDAEPL
  APPIKPIKPVTRNKAPQEPPVKKGRRSRRCGQCPGCQVPEDCGVCTNCLDKPKFGGRNIKKQCCKMRKCQNLQWM
  PSKAYLQKQAKAVKKKEKKSKTSEKKDSKESSVVKNVVDSSQKPTPSAREDPAPKKSSSEPPPRKPVEEKSEEGN
  VSAPGPESKQATTPASRKSSKQVSQPALVIPPQPPTTGPPRKEVPKTTPSEPKKKQPPPPESGPEQSKQKKVAPR
  PSIPVKQKPKEKEKPPPVNKQENAGTLNILSTLSNGNSSKQKIPADGVHRIRVDFKEDCEAENVWEMGGLGILTS
  VPITPRVVCFLCASSGHVEFVYCQVCCEPFHKFCLEENERPLEDQLENWCCRRCKFCHVCGRQHQATKQLLECNK
  CRNSYHPECLGPNYPTKPTKKKKVWICTKCVRCKSCGSTTPGKGWDAQWSHDFSLCHDCAKLFAKGNFCPLCDKC
  YDDDDYESKMMQCGKCDRWVHSKCENLSDEMYEILSNLPESVAYTCVNCTERHPAEWRLALEKELQISLKQVLTA
  LLNSRTTSHLLRYRQAAKPPDLNPETEESIPSRSSPEGPDPPVLTEVSKQDDQQPLDLEGVKRKMDQGNYTSVLE
  FSDDIVKIIQAAINSDGGQPEIKKANSMVKSFFIRQMERVFPWFSVKKSRFWEPNKVSSNSGMLPNAVLPPSLDH
  NYAQWQEREENSHTEQPPLMKKIIPAPKPKGPGEPDSPTPLHPPTPPILSTDRSREDSPELNPPPGIEDNRQCAL
  CLTYGDDSANDAGRLLYIGQNEWTHVNCALWSAEVFEDDDGSLKNVHMAVIRGKQLRCEFCQKPGATVGCCLTSC
  TSNYHFMCSRAKNCVFLDDKKVYCQRHRDLIKGEVVPENGFEVFRRVFVDFEGISLRRKFLNGLEPENIHMMIGS
  MTIDCLGILNDLSDCEDKLFPIGYQCSRVYWSTTDARKRCVYTCKIVECRPPVVEPDINSTVEHDENRTIAHSPT
  SFTESSSKESQNTAEIISPPSPDRPPHSQTSGSCYYHVISKVPRIRTPSYSPTQRSPGCRPLPSAGSPTPTTHEI
  VTVGDPLLSSGLRSIGSRRHSTSSLSPQRSKLRIMSPMRTGNTYSRNNVSSVSTTGTATDLESSAKVVDHVLGPL
  NSSTSLGQNTSTSSNLQRTVVTVGNKNSHLDGSSSSEMKQSSASDLVSKSSSLKGEKTKVLSSKSSEGSAHNVAY
  PGIPKLAPQVHNTTSRELNVSKIGSFAEPSSVSFSSKEALSFPHLHLRGQRNDRDQHTDSTQSANSSPDEDTEVK
  TLKLSGMSNRSSIINEHMGSSSRDRRQKGKKSCKETFKEKHSSKSFLEPGQVTTGEEGNLKPEFMDEVLTPEYMG
  QRPCNNVSSDKIGDKGLSMPGVPKAPPMQVEGSAKELQAPRKRTVKVTLTPLKMENESQSKNALKESSPASPLQI
  ESTSPTEPISASENPGDGPVAQPSPNNTSCQDSQSNNYQNLPVQDRNLMLPDGPKPQEDGSFKRRYPRRSARARS
  NMFFGLTPLYGVRSYGEEDIPFYSSSTGKKRGKRSAEGQVDGADDLSTSDEDDLYYYNFTRTVISSGGEERLASH
  NLFREEEQCDLPKISQLDGVDDGTESDTSVTATTRKSSQIPKRNGKENGTENLKIDRPEDAGEKEHVTKSSVGHK
  NEPKMDNCHSVSRVKTQGQDSLEAQLSSLESSRRVHTSTPSDKNLLDTYNTELLKSDSDNNNSDDCGNILPSDIM
  DFVLKNTPSMQALGESPESSSSELLNLGEGLGLDSNREKDMGLFEVFSQQLPTTEPVDSSVSSSISAEEQFELPL
  ELPSDLSVLTTRSPTVPSQNPSRLAVISDSGEKRVTITEKSVASSESDPALLSPGVDPTPEGHMTPDHFIQGHMD
  ADHISSPPCGSVEQGHGNNQDLTRNSSTPGLQVPVSPTVPIQNQKYVPNSTDSPGPSQISNAAVQTTPPHLKPAT
  EKLIVVNQNMQPLYVLQTLPNGVTQKIQLTSSVSSTPSVMETNTSVLGPMGGGLTLTTGLNPSLPTSQSLFPSAS
  KGLLPMSHHQHLHSFPAATQSSFPPNISNPPSGLLIGVQPPPDPQLLVSESSQRTDLSTTVATPSSGLKKRPISR
  LQTRKNKKLAPSSTPSNIAPSDVVSNMTLINFTPSQLPNHPSLLDLGSLNTSSHRTVPNIIKRSKSSIMYFEPAP
  LLPQSVGGTAATAAGTSTISQDTSHLTSGSVSGLASSSSVLNVVSMQTTTTPTSSASVPGHVTLTNPRLLGTPDI
  GSISNLLIKASQQSLGIQDQPVALPPSSGMFPQLGTSQTPSTAAITAASSICVLPSTQTTGITAASPSGEADEHY
  QLQHVNQLLASKTGIHSSQRDLDSASGPQVSNFTQTVDAPNSMGLEQNKALSSAVQASPTSPGGSPSSPSSGQRS
  ASPSVPGPTKPKPKTKRFQLPLDKGNGKKHKVSHLRTSSSEAHIPDQETTSLTSGTGTPGAEAEQQDTASVEQSS
  QKECGQPAGQVAVLPEVQVTQNPANEQESAEPKTVEEEESNFSSPLMLWLQQEQKRKESITEKKPKKGLVFEISS
  DDGFQICAESIEDAWKSLTDKVQEARSNARLKQLSFAGVNGLRMLGILHDAVVFLIEQLSGAKHCRNYKFRFHKP
  EEANEPPLNPHGSARAEVHLRKSAFDMFNFLASKHRQPPEYNPNDEEEEEVQLKSARRATSMDLPMPMRFRHLKK
  TSKEAVGVYRSPIHGRGLFCKRNIDAGEMVIEYAGNVIRSIQTDKREKYYDSKGIGCYMFRIDDSEVVDATMHGN
  AARFINHSCEPNCYSRVINIDGQKHIVIFAMRKIYRGEELTYDYKFPIEDASNKLPCNCGAKKCRKFLN

• Structural information:
  • Protein Domains: (1703..174-)
    (/note="Brom-)
    (-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00035-)
    (2018..207-)
    (/note="FYR-N-terminal)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00875-)
    (3666..374-)
    (/note="FYR-C-terminal)
    (/evidence="ECO:000-)
  • Interpro: IPR001487  IPR036427  IPR034732  IPR003889  IPR003888   IPR037927  IPR041958  IPR042023  IPR042025  IPR016569  IPR003616  IPR001214  IPR002857  IPR011011  IPR001965  IPR019787  IPR013083  
  • Prosite: PS50014 PS51805 PS51543 PS51542 PS50868 PS50280 PS51058 PS01359 PS50016
  • CDD: cd15693 cd15588 cd15590
  • PDB: 2AGH 2J2S 2JYI 2KKF 2KU7 2KYU 2LXS 2LXT 2MSR 2MTN 2W5Y 2W5Z 3EG6 3EMH 3LQH 3LQI 3LQJ 3P4F 3U85 3U88 4ESG 4GQ6 4NW3 5F5E 5F6L 5SVH 6EMQ 6KIU 6KIV 6KIX 6KIZ 6PWV 6PWW
  • PDBsum: 2AGH 2J2S 2JYI 2KKF 2KU7 2KYU 2LXS 2LXT 2MSR 2MTN 2W5Y 2W5Z 3EG6 3EMH 3LQH 3LQI 3LQJ 3P4F 3U85 3U88 4ESG 4GQ6 4NW3 5F5E 5F6L 5SVH 6EMQ 6KIU 6KIV 6KIX 6KIZ 6PWV 6PWW
  • DIP: 29221
  • STRING: ENSP00000436786
• Other Databases: GeneCards:  KMT2A  Malacards:  KMT2A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0097692	histone H3-K4 monomethylation	IDA	biological process
GO:0097692	histone H3-K4 monomethylation	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0044648	histone H3-K4 dimethylation	IDA	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:0051568	histone H3-K4 methylation	IBA	biological process
GO:0071339	MLL1 complex	IDA	cellular component
GO:0070577	lysine-acetylated histone binding	IDA	molecular function
GO:0045322	unmethylated CpG binding	IDA	molecular function
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	molecular function
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IDA	molecular function
GO:0035097	histone methyltransferase complex	IDA	cellular component
GO:0008270	zinc ion binding	IDA	molecular function
GO:0008270	zinc ion binding	IDA	molecular function
GO:0051568	histone H3-K4 methylation	IDA	biological process
GO:0008270	zinc ion binding	IDA	molecular function
GO:0045322	unmethylated CpG binding	IDA	molecular function
GO:0045322	unmethylated CpG binding	IDA	molecular function
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0042800	histone methyltransferase activity (H3-K4 specific)	IMP	molecular function
GO:2000615	regulation of histone H3-K9 acetylation	ISS	biological process
GO:0051571	positive regulation of histone H3-K4 methylation	ISS	biological process
GO:1905642	negative regulation of DNA methylation	IMP	biological process
GO:0051568	histone H3-K4 methylation	IMP	biological process
GO:0043984	histone H4-K16 acetylation	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:0005515	protein binding	IPI	molecular function
GO:0071440	regulation of histone H3-K14 acetylation	ISS	biological process
GO:0032922	circadian regulation of gene expression	ISS	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:0045944	positive regulation of transcription by RNA polymerase II	IMP	biological process
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:0071339	MLL1 complex	IEA	cellular component
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:0046872	metal ion binding	IEA	molecular function
GO:0016740	transferase activity	IEA	molecular function
GO:0032259	methylation	IEA	biological process
GO:0006325	chromatin organization	IEA	biological process
GO:0048511	rhythmic process	IEA	biological process
GO:0008168	methyltransferase activity	IEA	molecular function
GO:0006915	apoptotic process	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005634	nucleus	IDA	cellular component
GO:0042800	histone methyltransferase activity (H3-K4 specific)	EXP	molecular function
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:1902036	regulation of hematopoietic stem cell differentiation	TAS	biological process
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:0042802	identical protein binding	IPI	molecular function
GO:0042802	identical 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: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: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:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0045944	positive regulation of transcription by RNA polymerase II	IDA	biological process
GO:0080182	histone H3-K4 trimethylation	IDA	biological process
GO:0032411	positive regulation of transporter activity	IMP	biological process
GO:2001040	positive regulation of cellular response to drug	IMP	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0042803	protein homodimerization activity	IDA	molecular function
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0035162	embryonic hemopoiesis	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0003680	AT DNA binding	NAS	molecular function
GO:0005634	nucleus	NAS	cellular component

KEGG pathways

Pathway id	Pathway name
hsa01100	Metabolic pathways
hsa05202	Transcriptional misregulation in cancer
hsa04934	Cushing syndrome
hsa00310	Lysine degradation

Diseases

Associated diseases	References
B-cell acute lymphoblastic leukemia	KEGG:H00001
T-cell acute lymphoblastic leukemia	KEGG:H00002
Wiedemann-Steiner syndrome	KEGG:H01879
B-cell acute lymphoblastic leukemia	KEGG:H00001
T-cell acute lymphoblastic leukemia	KEGG:H00002
Wiedemann-Steiner syndrome	KEGG:H01879
Non-Hodgkin lymphoma	PMID:8361504
Prostate cancer	PMID:24200674
cervical cancer	PMID:22926525
acute myeloid leukemia	PMID:8361504
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			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
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