Entry |
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Symbol |
KMT2B, CXXC10, DYT28, HRX2, MLL1B, MLL2, MLL4, MRD68, TRX2, WBP-7, WBP7
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Name |
(RefSeq) lysine methyltransferase 2B
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KO |
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Organism |
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Pathway |
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Disease |
H00773 | Autosomal dominant intellectual developmental disorder |
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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)
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SSDB |
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Motif |
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Other DBs |
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Structure |
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Position |
19:35718003..35738878
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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 |