KEGG   Homo sapiens (human): 9757
Entry
9757              CDS       T01001                                 
Symbol
KMT2B, CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2, WBP-7, WBP7
Name
(RefSeq) lysine methyltransferase 2B
  KO
K14959  [histone H3]-lysine4 N-trimethyltransferase MLL4 [EC:2.1.1.354]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
Disease
H00773  Autosomal dominant intellectual developmental disorder
H00831  Primary dystonia
H01613  Follicular lymphoma
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    9757 (KMT2B)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03000 Transcription factors [BR:hsa03000]
    9757 (KMT2B)
   03036 Chromosome and associated proteins [BR:hsa03036]
    9757 (KMT2B)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.354  [histone H3]-lysine4 N-trimethyltransferase
     9757 (KMT2B)
Transcription factors [BR:hsa03000]
 Eukaryotic type
  Zinc finger
   CXXC CpG-binding proteins
    9757 (KMT2B)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     9757 (KMT2B)
   HMT complexes
    MLL3/MLL4 complex
     9757 (KMT2B)
SSDB
Motif
Pfam: SET FYRC FYRN PHD zf-CXXC zf-HC5HC2H zf-HC5HC2H_2 PHD_4 Bromodomain
Other DBs
NCBI-GeneID: 9757
NCBI-ProteinID: NP_055542
OMIM: 606834
HGNC: 15840
Ensembl: ENSG00000272333
UniProt: Q9UMN6
Structure
Position
19:35718003..35738878
AA seq 2715 aa
MAAAAGGGSCPGPGSARGRFPGRPRGAGGGGGRGGRGNGAERVRVALRRGGGATGPGGAE
PGEDTALLRLLGLRRGLRRLRRLWAGPRVQRGRGRGRGRGWGPSRGCVPEEESSDGESDE
EEFQGFHSDEDVAPSSLRSALRSQRGRAPRGRGRKHKTTPLPPPRLADVAPTPPKTPARK
RGEEGTERMVQALTELLRRAQAPQAPRSRACEPSTPRRSRGRPPGRPAGPCRRKQQAVVV
AEAAVTIPKPEPPPPVVPVKHQTGSWKCKEGPGPGPGTPRRGGQSSRGGRGGRGRGRGGG
LPFVIKFVSRAKKVKMGQLSLGLESGQGQGQHEESWQDVPQRRVGSGQGGSPCWKKQEQK
LDDEEEEKKEEEEKDKEGEEKEERAVAEEMMPAAEKEEAKLPPPPLTPPAPSPPPPLPPP
STSPPPPLCPPPPPPVSPPPLPSPPPPPAQEEQEESPPPVVPATCSRKRGRPPLTPSQRA
EREAARAGPEGTSPPTPTPSTATGGPPEDSPTVAPKSTTFLKNIRQFIMPVVSARSSRVI
KTPRRFMDEDPPKPPKVEVSPVLRPPITTSPPVPQEPAPVPSPPRAPTPPSTPVPLPEKR
RSILREPTFRWTSLTRELPPPPPAPPPPPAPSPPPAPATSSRRPLLLRAPQFTPSEAHLK
IYESVLTPPPLGAPEAPEPEPPPADDSPAEPEPRAVGRTNHLSLPRFAPVVTTPVKAEVS
PHGAPALSNGPQTQAQLLQPLQALQTQLLPQALPPPQPQLQPPPSPQQMPPLEKARIAGV
GSLPLSGVEEKMFSLLKRAKVQLFKIDQQQQQKVAASMPLSPGGQMEEVAGAVKQISDRG
PVRSEDESVEAKRERPSGPESPVQGPRIKHVCRHAAVALGQARAMVPEDVPRLSALPLRD
RQDLATEDTSSASETESVPSRSRRGKVEAAGPGGESEPTGSGGTLAHTPRRSLPSHHGKK
MRMARCGHCRGCLRVQDCGSCVNCLDKPKFGGPNTKKQCCVYRKCDKIEARKMERLAKKG
RTIVKTLLPWDSDESPEASPGPPGPRRGAGAGGPREEVVAHPGPEEQDSLLQRKSARRCV
KQRPSYDIFEDSDDSEPGGPPAPRRRTPRENELPLPEPEEQSRPRKPTLQPVLQLKARRR
LDKDALAPGPFASFPNGWTGKQKSPDGVHRVRVDFKEDCDLENVWLMGGLSVLTSVPGGP
PMVCLLCASKGLHELVFCQVCCDPFHPFCLEEAERPLPQHHDTWCCRRCKFCHVCGRKGR
GSKHLLECERCRHAYHPACLGPSYPTRATRKRRHWICSACVRCKSCGATPGKNWDVEWSG
DYSLCPRCTQLYEKGNYCPICTRCYEDNDYESKMMQCAQCDHWVHAKCEGLSDEDYEILS
GLPDSVLYTCGPCAGAAQPRWREALSGALQGGLRQVLQGLLSSKVVGPLLLCTQCGPDGK
QLHPGPCGLQAVSQRFEDGHYKSVHSFMEDMVGILMRHSEEGETPDRRAGGQMKGLLLKL
LESAFGWFDAHDPKYWRRSTRLPNGVLPNAVLPPSLDHVYAQWRQQEPETPESGQPPGDP
SAAFQGKDPAAFSHLEDPRQCALCLKYGDADSKEAGRLLYIGQNEWTHVNCAIWSAEVFE
ENDGSLKNVHAAVARGRQMRCELCLKPGATVGCCLSSCLSNFHFMCARASYCIFQDDKKV
FCQKHTDLLDGKEIVNPDGFDVLRRVYVDFEGINFKRKFLTGLEPDAINVLIGSIRIDSL
GTLSDLSDCEGRLFPIGYQCSRLYWSTVDARRRCWYRCRILEYRPWGPREEPAHLEAAEE
NQTIVHSPAPSSEPPGGEDPPLDTDVLVPGAPERHSPIQNLDPPLRPDSGSAPPPAPRSF
SGARIKVPNYSPSRRPLGGVSFGPLPSPGSPSSLTHHIPTVGDPDFPAPPRRSRRPSPLA
PRPPPSRWASPPLKTSPQLRVPPPTSVVTALTPTSGELAPPGPAPSPPPPEDLGPDFEDM
EVVSGLSAADLDFAASLLGTEPFQEEIVAAGAMGSSHGGPGDSSEEESSPTSRYIHFPVT
VVSAPGLAPSATPGAPRIEQLDGVDDGTDSEAEAVQQPRGQGTPPSGPGVVRAGVLGAAG
DRARPPEDLPSEIVDFVLKNLGGPGDGGAGPREESLPPAPPLANGSQPSQGLTASPADPT
RTFAWLPGAPGVRVLSLGPAPEPPKPATSKIILVNKLGQVFVKMAGEGEPVPPPVKQPPL
PPTISPTAPTSWTLPPGPLLGVLPVVGVVRPAPPPPPPPLTLVLSSGPASPPRQAIRVKR
VSTFSGRSPPAPPPYKAPRLDEDGEASEDTPQVPGLGSGGFSRVRMKTPTVRGVLDLDRP
GEPAGEESPGPLQERSPLLPLPEDGPPQVPDGPPDLLLESQWHHYSGEASSSEEEPPSPD
DKENQAPKRTGPHLRFEISSEDGFSVEAESLEGAWRTLIEKVQEARGHARLRHLSFSGMS
GARLLGIHHDAVIFLAEQLPGAQRCQHYKFRYHQQGEGQEEPPLNPHGAARAEVYLRKCT
FDMFNFLASQHRVLPEGATCDEEEDEVQLRSTRRATSLELPMAMRFRHLKKTSKEAVGVY
RSAIHGRGLFCKRNIDAGEMVIEYSGIVIRSVLTDKREKFYDGKGIGCYMFRMDDFDVVD
ATMHGNAARFINHSCEPNCFSRVIHVEGQKHIVIFALRRILRGEELTYDYKFPIEDASNK
LPCNCGAKRCRRFLN
NT seq 8148 nt   +upstreamnt  +downstreamnt
atggcggcggcggcgggcggcggcagttgccccgggcctggctccgcgcggggccgcttc
ccgggccggccgcggggcgccggcgggggcgggggccgcggcggacggggcaacggggcc
gaaagagtgcgggtagctctgcggcgcggcggtggcgcgacggggccgggcggagccgag
cccggggaggacacggccctgctccgtttgctggggctccgccggggcctgcgccggctc
cgccgcctgtgggccggcccgcgggtccagcggggccggggacggggtcggggccggggc
tggggcccgagtcgaggctgcgtgccggaggaggagagcagtgacggggaatccgacgag
gaggagtttcagggttttcattcagatgaagatgtggcccccagttccctgcgctctgcg
ctccgatcccagcgaggtcgagcgccccgaggtcggggtcgcaagcataagacgaccccc
cttcctcctcctcgcctagcagatgtggctcctacccccccaaagacccctgcccggaaa
cggggtgaggaaggcacagaacggatggtgcaggcactgactgaacttctccggcgggcc
caggcaccccaagcaccccggagccgggcatgtgagccctccaccccccggcggtctcgg
ggacggcccccaggacggccagcaggcccctgcaggaggaagcagcaagcagtagtggtg
gcagaagcagctgtgacaatccccaaacctgagcccccacctcctgtggttccagtgaaa
catcagactggcagctggaaatgcaaggaggggcccggtccaggacctgggacccccagg
cgtggaggacagtcaagccgtggaggccgtggaggcaggggccgcggccgaggtggtggg
ctcccctttgtgatcaagtttgtttcaagggccaaaaaagtaaagatgggacaattgtcc
ttgggactcgaatcaggtcaaggtcaaggtcaacatgaggaaagttggcaggatgtcccc
caaagaagagttggatctggacagggagggagcccttgctggaaaaagcaggaacagaag
ctggatgacgaggaagaagagaagaaagaagaagaagaaaaagacaaggagggagaagag
aaggaagaaagagctgtagctgaggagatgatgccagctgcggaaaaggaagaggcaaag
ctgccaccaccgcctctgactcctccagccccttcacctcctccacccctcccaccccct
tcgacatctcctccacccccactctgccctccaccaccacccccagtgtccccaccacct
ctaccatcccctccaccgcctcctgcccaagaggagcaggaggaatcccctcctcctgtg
gtcccagctacgtgctccaggaagaggggccggcctcccctgactcccagccagcgggcg
gagcgggaagctgctcgggcagggccagagggcacctctcctcccactccaacccccagc
accgccacgggaggccctccggaagacagtcccaccgtggcccccaaaagcaccaccttc
ctgaagaatatccggcagtttattatgcctgtggtgagtgcccgctcctcccgtgtcatc
aagacaccccggcgatttatggatgaagacccccccaaacccccaaaggtggaggtctca
cctgtcctgcgacctcccattaccacctccccacctgttccccaggagccagcaccagtc
ccctctccaccacgtgccccaactcctccatctaccccagttccactccctgagaagaga
cggtccatcctaagggaacccacatttcgctggacctcactgacccgggagctgccccct
cctcccccagcccctccacctcccccggccccctccccaccccctgctcctgccacctcc
tcccggaggcccctactccttcgggcccctcagtttaccccaagcgaagcccacctgaag
atctacgaatcggtgcttactcctcctcctcttggggctcctgaagcccctgagccagag
cctcctcctgccgatgactctccagctgagcctgagcctcgggcagtgggccgcaccaac
cacctcagcctgcctcgattcgcccctgtggtcaccactcctgttaaggccgaggtgtcc
cctcacggggctccagctctgagcaacgggccacagacacaggctcagctactgcagccc
ctgcaggccttgcaaacccagctcctgccccaggcactaccgccaccacagccacagctg
cagccaccgccgtcaccacagcagatgcctcccctggaaaaagcccggattgcgggcgtg
ggttccttgccgctgtctggggtagaggagaagatgttcagcctcctcaagagagccaaa
gtgcagctattcaagatcgatcagcagcagcagcagaaggtggcagcttccatgccgctg
agccctggagggcagatggaggaggtggccggggctgtcaagcagatctccgacagaggc
cctgtccggtctgaagatgagtcggtggaagctaagagagagcggccctcaggtcccgag
tcccctgtgcaaggtccccgcatcaaacatgtctgccgtcatgctgctgtggccctgggt
caggcccgggccatggtgcctgaagatgtccctcgcctcagtgccctccctctccgggat
cggcaggacctcgccacagaggatacatcatcggcgtccgagactgagagtgtcccgtca
cggtcccggcggggaaaggtggaggcagcaggccctgggggagaatcagagcccacaggt
tctggagggaccctggcccacacaccccggcgctcactgccctcccatcacggcaagaag
atgcgcatggctcgatgtggacactgtcggggctgcctacgtgtgcaggactgtgggtcc
tgtgtcaactgcctagacaagcccaagtttgggggccctaacaccaagaagcagtgctgt
gtataccggaagtgtgacaaaatagaggctcggaagatggaacgactggctaaaaaaggc
cggacgatagtgaagacgctgttgccctgggattccgatgaatctcctgaggcctcccct
ggtcctccaggcccacgccggggggcgggagctggggggccccgggaggaggtggtggcc
cacccagggcccgaggagcaggactccctcctgcagcgcaagtcagctcggcgctgcgtc
aaacagcgaccctcctatgatatcttcgaggattcggatgactcggagcccgggggcccc
cctgctcctcggcgtcggaccccccgagaaaatgagctgccactgccagaacctgaggag
cagagccggccccgcaaacctaccctgcagcctgtgttgcagctcaaggcccgaaggcgc
ctggacaaggatgctttggcccctggcccctttgcttcttttcccaatggctggactgga
aagcagaagtctcccgatggtgtgcaccgcgtccgtgtggattttaaggaggattgtgat
ttagagaacgtgtggctgatggggggcctgagtgtgctcacctctgtgccagggggcccc
ccgatggtgtgcttgctgtgtgccagcaaaggactccacgagctggtgttctgtcaagtc
tgctgtgacccattccacccattctgcctggaggaggccgagcggcccctgccccagcat
cacgacacctggtgctgccgtcgctgcaaattctgccacgtctgtggacgcaaaggtcgt
ggatccaagcacctcctggagtgcgagcgctgccgccatgcataccacccggcctgtctg
gggcccagctatccaacccgggccacgcgcaaacggcgccactggatctgttcagcctgt
gtgcgctgtaagagctgtggggcaactccaggcaagaactgggacgtcgagtggtctgga
gattacagcctctgccccaggtgcacccagctatatgagaaaggaaactactgcccgatc
tgtacacgctgctatgaagacaacgactatgagagcaagatgatgcagtgcgcacagtgc
gatcactgggtgcatgccaagtgcgaggggctctcagatgaagactacgagatcctttca
ggactgccagactcggtgctgtacacctgcggaccgtgtgctggggcagcgcagccccgc
tggcgagaggccctgagcggggccctccaggggggcctgcgccaggtgctccagggcctg
ctgagctccaaggtggtgggcccactgctgctctgcacccagtgtgggccagatgggaag
caactgcacccaggaccctgcggcctgcaagctgtgagtcagcgcttcgaggatggccac
tacaagtctgtgcacagcttcatggaggacatggtgggcatcctcatgcggcactcggag
gagggagagaccccggaccgccgggctggaggccagatgaaggggctcctgctgaagctg
ctagaatctgcgttcggctggttcgacgcccacgaccccaagtactggcgacggagtacc
cggctgccaaacggagtccttcccaatgcggtgttgcccccatccctggatcatgtctat
gcgcagtggagacagcaggaaccagagaccccagaatcagggcagcctccaggggatccc
tcagcagcattccagggcaaggatccggctgccttctcacacctggaggacccccgtcag
tgtgcactctgcctcaaatacggggatgcagactccaaggaggcggggcggctcttgtac
atcgggcagaacgagtggacacacgtcaactgtgccatctggtcggcggaagtcttcgag
gagaacgacggctccctcaagaatgtgcatgctgctgtggcccgagggaggcagatgcgc
tgcgagctctgcctgaagcctggcgccacggtgggctgctgcctgtcctcctgcctcagc
aacttccacttcatgtgtgcccgggccagctactgcatcttccaggatgacaagaaagtc
ttctgccagaaacacactgatctcctggatggcaaggaaattgtgaaccccgatggtttt
gatgttctccgccgagtctatgtggacttcgagggcatcaacttcaagcggaagttcttg
acggggcttgaacccgatgccatcaacgtgctcattggttccatccgcattgactccctg
ggtactctgtctgatctctcggactgcgagggacggctcttccccattggctaccagtgc
tcccgtctgtactggagcacagtggatgctcggaggcgctgctggtatcggtgccgaatt
ctggagtatcggccatgggggccgagggaagagccagctcacctggaggctgcagaggag
aaccagaccattgtgcacagccccgccccttcctcagagcccccaggtggtgaggacccc
ccactggacacagatgttcttgtccctggagctcctgagcgccactcgcccattcagaac
ctggaccctccactgcggccagattcaggcagcgcccctcctccagccccccgttctttt
tcgggggctcgaatcaaagtgcccaactactcgccatcccggaggcccttggggggtgtc
tcctttggccccctgccctcccctggaagtccatcttcactgacccaccacatccccaca
gtgggagacccggacttcccagctccccccagacgttcccgtcgtcccagccctttggct
cccaggccgcctccatcacggtgggcctcccctcctctaaaaacctcccctcagctcagg
gtgccccctcctacctcagtcgtcacagccctcacacctacctcaggggagctggctccc
cctggcccggccccatctccaccaccccctgaagacctgggcccagacttcgaggacatg
gaggtggtgtcaggactgagtgctgctgacctggacttcgcggccagcctgctggggact
gagcccttccaggaagagattgtagccgctggggccatggggagcagccacgggggcccg
ggggacagctccgaggaggagtccagccccacctcccgctacatccacttccctgtgact
gtggtgtccgcccctggtctggcccccagcgctacccctggagccccccgcattgaacag
ctggacggcgtggacgacggcactgacagtgaggctgaggcggtgcagcagcctcggggc
cagggcacgcctccttcggggccaggagtagtccgggcaggggtccttggggctgcaggg
gacagggcccggcctcctgaggacctgccatcggaaattgtggattttgtgttgaagaac
ctagggggtcctggggatggaggtgctggccctagagaggagtcactccccccggcgcct
cccctggctaatggcagccagccctcccaaggcctgaccgccagcccagctgaccccacc
cgcacatttgcctggctcccaggggccccaggggtccgggtgttaagccttggccctgcc
cctgagccccccaaacccgccacatccaaaatcatacttgtcaacaagctggggcaagta
tttgtgaagatggctggggagggtgaacctgtcccacccccagtgaagcagccacctttg
ccccccaccatttcccccacggctcccacctcctggactctgcccccaggccccctcctc
ggcgtgctgcccgtggtcggagtggtccgccctgccccgcccccgccaccccctcccctg
acgctggtgctgagcagtgggccagccagcccgccccgccaggccatccgcgtcaagagg
gtgtccactttctccggccggtccccgccagcacctcccccatacaaagccccccggctg
gatgaagatggagaggcctcagaggatacccctcaggttccagggcttggcagtggcggg
tttagccgtgtgaggatgaaaacccccacagtgcgtggggtccttgacctggatcggcct
ggggagcccgctggggaagaaagtcctgggcccctccaggaacggtcccctttgctgcca
cttccggaagatggtcctccccaggtccccgatggtcccccagacctgctgcttgagtcc
cagtggcaccactattcaggtgaggcttcgagctctgaggaagagcctccatccccagat
gataaagagaaccaggccccaaaacggactggcccacatctgcgcttcgagatcagcagt
gaggatgggttcagcgttgaggcagagagcttggagggggcgtggagaactctgatcgag
aaagtgcaagaggcccgagggcatgcccgactcagacatctctcctttagtggaatgagt
ggggcgagactcctgggcatccaccatgatgctgtcatcttcctggccgagcagctcccc
ggagcccagcgttgccagcactataagttccgttaccaccagcagggagagggccaggag
gagccgcccctgaatccccatggggctgctcgggcagaggtctatctccggaagtgcacc
tttgacatgttcaacttcctggcctcccagcaccgggtgctccctgagggggccacctgt
gatgaggaagaggatgaggtgcagctcaggtcaaccagacgtgccaccagcctggagctg
cccatggccatgcgttttcgtcaccttaagaagacgtccaaagaagctgtgggtgtctac
agatcagccatccacgggcgaggcctgttctgtaagcgcaacatcgacgcgggggagatg
gtcatcgagtactctggcattgtcatccgctcggtgttgactgacaagcgggagaagttc
tacgatgggaagggcatcgggtgctatatgttccgcatggatgactttgatgtagtggac
gccacgatgcatggcaatgccgcccgcttcatcaaccactcctgtgagcccaactgcttc
tctcgggtcatccacgtggagggccagaaacacattgttatcttcgccctgcgccgcatc
ctgcgtggtgaggagctcacctacgactacaagttccccatcgaggatgccagcaacaag
ctgccctgcaactgtggcgccaagcgctgccgtcggttccttaactga

  All links  
Ontology (4)   
   KEGG BRITE (4)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (6)   
   KEGG DISEASE (3)   
   OMIM (3)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (135)   
   KEGG ORTHOLOGY (1)   
   RefGene (128)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (9)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (7)   
DNA sequence (29)   
   RefSeq(nuc) (9)   
   GenBank (10)   
   EMBL (10)   
3D Structure (4)   
   PDB (4)   
Protein domain (9)   
   Pfam (9)   
All databases (209)   

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