KEGG   Homo sapiens (human): 29072
Entry
29072             CDS       T01001                                 
Symbol
SETD2, HBP231, HIF-1, HIP-1, HSPC069, HYPB, KMT3A, LLS, MRD70, RAPAS, SET2, p231HBP
Name
(RefSeq) SET domain containing 2, histone lysine methyltransferase
  KO
K11423  [histone H3]-lysine36 N-trimethyltransferase [EC:2.1.1.359]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
Disease
H00773  Autosomal dominant intellectual developmental disorder
H02444  Luscan-Lumish syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    29072 (SETD2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    29072 (SETD2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.359  [histone H3]-lysine36 N-trimethyltransferase
     29072 (SETD2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     29072 (SETD2)
SSDB
Motif
Pfam: SET SRI AWS WW
Other DBs
NCBI-GeneID: 29072
NCBI-ProteinID: NP_054878
OMIM: 612778
HGNC: 18420
Ensembl: ENSG00000181555
UniProt: Q9BYW2
Structure
Position
3:complement(47016436..47164840)
AA seq 2564 aa
MKQLQPQPPPKMGDFYDPEHPTPEEEENEAKIENVQKTGFIKGPMFKGVASSRFLPKGTK
TKVNLEEQGRQKVSFSFSLTKKTLQNRFLTALGNEKQSDTPNPPAVPLQVDSTPKMKMEI
GDTLSTAEESSPPKSRVELGKIHFKKHLLHVTSRPLLATTTAVASPPTHAAPLPAVIAES
TTVDSPPSSPPPPPPPAQATTLSSPAPVTEPVALPHTPITVLMAAPVPLPVDVAVRSLKE
PPIIIVPESLEADTKQDTISNSLEEHVTQILNEQADISSKKEDSHIGKDEEIPDSSKISL
SCKKTGSKKKSSQSEGIFLGSESDEDSVRTSSSQRSHDLKFSASIEKERDFKKSSAPLKS
EDLGKPSRSKTDRDDKYFSYSKLERDTRYVSSRCRSERERRRSRSHSRSERGSRTNLSYS
RSERSHYYDSDRRYHRSSPYRERTRYSRPYTDNRARESSDSEEEYKKTYSRRTSSHSSSY
RDLRTSSYSKSDRDCKTETSYLEMERRGKYSSKLERESKRTSENEAIKRCCSPPNELGFR
RGSSYSKHDSSASRYKSTLSKPIPKSDKFKNSFCCTELNEEIKQSHSFSLQTPCSKGSEL
RMINKNPEREKAGSPAPSNRLNDSPTLKKLDELPIFKSEFITHDSHDSIKELDSLSKVKN
DQLRSFCPIELNINGSPGAESDLATFCTSKTDAVLMTSDDSVTGSELSPLVKACMLSSNG
FQNISRCKEKDLDDTCMLHKKSESPFRETEPLVSPHQDKLMSMPVMTVDYSKTVVKEPVD
TRVSCCKTKDSDIYCTLNDSNPSLCNSEAENIEPSVMKISSNSFMNVHLESKPVICDSRN
LTDHSKFACEEYKQSIGSTSSASVNHFDDLYQPIGSSGIASSLQSLPPGIKVDSLTLLKC
GENTSPVLDAVLKSKKSSEFLKHAGKETIVEVGSDLPDSGKGFASRENRRNNGLSGKCLQ
EAQEEGNSILPERRGRPEISLDERGEGGHVHTSDDSEVVFSSCDLNLTMEDSDGVTYALK
CDSSGHAPEIVSTVHEDYSGSSESSNDESDSEDTDSDDSSIPRNRLQSVVVVPKNSTLPM
EETSPCSSRSSQSYRHYSDHWEDERLESRRHLYEEKFESIASKACPQTDKFFLHKGTEKN
PEISFTQSSRKQIDNRLPELSHPQSDGVDSTSHTDVKSDPLGHPNSEETVKAKIPSRQQE
ELPIYSSDFEDVPNKSWQQTTFQNRPDSRLGKTELSFSSSCEIPHVDGLHSSEELRNLGW
DFSQEKPSTTYQQPDSSYGACGGHKYQQNAEQYGGTRDYWQGNGYWDPRSGRPPGTGVVY
DRTQGQVPDSLTDDREEEENWDQQDGSHFSDQSDKFLLSLQKDKGSVQAPEISSNSIKDT
LAVNEKKDFSKNLEKNDIKDRGPLKKRRQEIESDSESDGELQDRKKVRVEVEQGETSVPP
GSALVGPSCVMDDFRDPQRWKECAKQGKMPCYFDLIEENVYLTERKKNKSHRDIKRMQCE
CTPLSKDERAQGEIACGEDCLNRLLMIECSSRCPNGDYCSNRRFQRKQHADVEVILTEKK
GWGLRAAKDLPSNTFVLEYCGEVLDHKEFKARVKEYARNKNIHYYFMALKNDEIIDATQK
GNCSRFMNHSCEPNCETQKWTVNGQLRVGFFTTKLVPSGSELTFDYQFQRYGKEAQKCFC
GSANCRGYLGGENRVSIRAAGGKMKKERSRKKDSVDGELEALMENGEGLSDKNQVLSLSR
LMVRIETLEQKLTCLELIQNTHSQSCLKSFLERHGLSLLWIWMAELGDGRESNQKLQEEI
IKTLEHLPIPTKNMLEESKVLPIIQRWSQTKTAVPPLSEGDGYSSENTSRAHTPLNTPDP
STKLSTEADTDTPKKLMFRRLKIISENSMDSAISDATSELEGKDGKEDLDQLENVPVEEE
EELQSQQLLPQQLPECKVDSETNIEASKLPTSEPEADAEIEPKESNGTKLEEPINEETPS
QDEEEGVSDVESERSQEQPDKTVDISDLATKLLDSWKDLKEVYRIPKKSQTEKENTTTER
GRDAVGFRDQTPAPKTPNRSRERDPDKQTQNKEKRKRRSSLSPPSSAYERGTKRPDDRYD
TPTSKKKVRIKDRNKLSTEERRKLFEQEVAQREAQKQQQQMQNLGMTSPLPYDSLGYNAP
HHPFAGYPPGYPMQAYVDPSNPNAGKVLLPTPSMDPVCSPAPYDHAQPLVGHSTEPLSAP
PPVPVVPHVAAPVEVSSSQYVAQSDGVVHQDSSVAVLPVPAPGPVQGQNYSVWDSNQQSV
SVQQQYSPAQSQATIYYQGQTCPTVYGVTSPYSQTTPPIVQSYAQPSLQYIQGQQIFTAH
PQGVVVQPAAAVTTIVAPGQPQPLQPSEMVVTNNLLDLPPPSPPKPKTIVLPPNWKTARD
PEGKIYYYHVITRQTQWDPPTWESPGDDASLEHEAEMDLGTPTYDENPMKASKKPKTAEA
DTSSELAKKSKEVFRKEMSQFIVQCLNPYRKPDCKVGRITTTEDFKHLARKLTHGVMNKE
LKYCKNPEDLECNENVKHKTKEYIKKYMQKFGAVYKPKEDTELE
NT seq 7695 nt   +upstreamnt  +downstreamnt
atgaagcagctgcagccgcagccgcctccgaagatgggggatttctacgacccggagcac
ccgacccctgaagaagaagaaaatgaggcaaagattgaaaatgtgcagaaaacaggtttc
atcaaaggaccaatgttcaaaggtgttgcttctagtcgatttttgcccaaaggcaccaaa
acaaaagttaatttggaagaacagggacgacagaaggtgtcattcagcttcagccttaca
aagaaaactttgcagaataggtttctcactgcacttggcaatgaaaagcaaagtgatact
ccaaaccctccagctgtacctcttcaggtagactcgactcctaaaatgaaaatggaaatt
ggtgataccttatctactgcagaagaatcttccccaccaaagtcaagggtggaattgggc
aaaattcattttaagaaacatctgcttcatgtaacatccaggccactgctggctactacc
acagcagtagcatctccacctactcatgcagcaccattaccagcagtgatagcagaatca
acaactgtagactcaccgccctcatctccgcctccaccgcctccacctgcccaagccaca
acactctcatcaccagcaccagtaacagagccagtggccttgccacatacaccaataaca
gttctaatggcagcaccagtacccttaccagtagatgtagcagttagatctctgaaagaa
ccaccaattataattgtaccagaatctttagaagcagatactaagcaggacactatatct
aatagtttagaagaacacgtaactcaaatattgaatgagcaagcagatatttcctcaaaa
aaagaagattcccatattgggaaggatgaagaaattccagatagttctaagattagtctg
agctgtaaaaaaacaggttctaagaagaaatcctcacaatctgaaggcatctttcttggt
tcagaatctgatgaagattctgtacggacttcttcaagtcaaagatcacatgatttaaaa
ttttcagcaagcattgaaaaggaaagagattttaaaaagagctcagcacctttaaaaagt
gaggatctagggaaaccttcacgatctaaaacagacagagatgataaatattttagctat
tcaaaacttgaaagagatactcggtatgtatcttcccgatgtagatcagaaagagagcga
cggcggagcagatctcactctaggtctgagagaggctctagaactaatttatcctattcc
aggtcagaacgatctcattattatgactctgatcgtcgctaccataggagctccccttat
cgagagaggacgcgctattctcggccatacacagataacagagcacgagagagttctgac
tcagaagaagagtataagaagacatactcaaggcgtacctcatctcattcctcttcttac
agagacctaaggacatcatcctattctaaatctgatcgggactgtaaaactgagacctct
tacttagagatggaaagaagaggcaagtattcttcaaaactagaaagagaatctaaaagg
acttcagaaaatgaagcaattaaaagatgttgttctccccctaatgaactgggattccga
cgagggtcatcatattctaagcatgacagtagtgcttcccgttataaatctaccctttca
aaacctatacccaagtctgataaatttaaaaattctttctgttgtacagaattaaatgaa
gaaatcaaacagtctcattcttttagtttacagacaccttgttcaaaaggtagtgaatta
agaatgattaataaaaatcctgaaagagaaaaggctgggtctccagctccatcaaatcga
ttaaatgattcacctactttaaaaaagctagatgaattgcctatttttaagtccgaattt
ataacacatgatagccatgatagtattaaggaattagactctttatctaaagtgaagaat
gatcaattaagaagtttttgtcccatagaattaaatataaatggatctcctggggcagaa
tctgatttggcaacattttgcacttctaaaactgatgctgttttaatgacttctgatgat
agtgtgactggatcggaattatcccctttggtcaaagcatgcatgctttcatcaaatgga
tttcagaatattagtaggtgcaaagaaaaagacttggatgatacctgcatgctgcataag
aagtcagaaagcccatttagagaaacagaacctctggtgtcaccacaccaagataaactc
atgtctatgccagttatgactgtggattattccaaaacagtagttaaagaaccagttgat
acgagggtttcttgctgcaaaaccaaagattcagacatatactgtactttgaacgatagc
aacccttctttgtgtaactctgaagctgaaaatattgagccttcagttatgaagatttct
tcaaatagctttatgaatgtgcatttggaatcaaaaccagttatatgtgatagtagaaat
ttgacagatcactcaaaatttgcatgtgaagaatataagcagagcatcggtagcactagt
tcagcttctgttaatcattttgatgatttatatcaacctattgggagttcaggtattgct
tcatctcttcagagtcttccaccaggaataaaggtggacagtctaactctcttgaaatgc
ggagagaacacatctccagttctggatgcagtgctaaagagtaaaaaaagttcagagttt
ttaaagcatgcagggaaagaaacaatagtagaagtaggtagtgaccttcctgattcagga
aagggatttgcttccagggagaacaggcgtaataatgggttatctgggaaatgtttgcaa
gaggctcaagaagaagggaattccatattgcctgaaagaagaggaagaccagaaatctct
ttagatgaaagaggagaaggaggacatgtgcatacttctgatgactcagaagttgtattt
tcttcttgtgatttgaatttaaccatggaagacagtgatggtgtaacttatgcattaaag
tgtgacagtagtggtcatgccccagaaattgtgtctacagttcatgaagattattctggc
tcttctgaaagttcaaatgatgaaagtgattcagaagatacagattcggatgatagcagt
attccaagaaaccgtctccagtctgttgtggttgtgccaaagaattctactttgcccatg
gaagaaacaagtccttgttcttctcggagcagtcaaagttatagacactattctgaccat
tgggaagatgagagattggagtcaaggagacatttgtatgaggaaaaatttgaaagtata
gcaagtaaagcctgtcctcaaactgataagtttttccttcataaaggaacagagaagaat
ccggaaatttcttttacacagtccagtagaaaacaaatagataatcgcctgcctgaactt
tctcatcctcagagtgatggggttgatagtacaagtcatacagatgtgaaatctgaccct
ctgggtcacccaaattcagaggaaaccgtgaaagccaaaataccttctaggcagcaagaa
gagctgccaatttattcttctgattttgaagatgtcccaaataagtcttggcaacagacc
actttccaaaacaggccagatagtagactgggaaaaacagaattgagtttttcttcctct
tgtgagataccacatgtggatggcttgcactcatcagaagagctcagaaacttaggttgg
gacttctctcaagaaaagccttctaccacgtatcagcaacctgacagtagctatggagct
tgtggtggacacaagtatcagcaaaatgcagaacagtatggtgggacacgtgattactgg
caaggcaatggttactgggatccaagatcaggtagacctcctggaactggggttgtgtat
gatcgaactcaaggacaagtaccagattccctaacagatgatcgtgaagaagaggagaat
tgggatcaacaggatggatcccatttttcagaccagtccgataaatttcttctatccctt
cagaaagacaaggggtcagtgcaagcacctgaaataagcagcaattccattaaggacact
ttagctgtgaatgaaaagaaagatttttcaaaaaacttagaaaaaaatgatatcaaagat
agagggcctcttaaaaaaaggaggcaggaaatagagagtgattctgaaagtgatggtgag
cttcaggacagaaagaaagttagagtggaggtagagcagggagagacatcagtgccccca
ggttcagcactggttgggccctcctgtgtcatggatgacttcagggacccacagcgatgg
aaggaatgtgccaagcaagggaaaatgccatgttactttgatcttattgaagaaaatgtt
tatttaacagaaagaaagaagaataaatctcatcgagatattaagcgaatgcagtgtgag
tgtacacctctttctaaagatgaaagagctcaaggtgaaatagcatgtggggaagattgt
cttaatcgtcttctcatgattgaatgttcttctcggtgtccaaatggggattattgttcc
aatagacggtttcagagaaaacagcatgcagatgtggaagtcatactcacagaaaagaaa
ggctggggcttgagagctgccaaagaccttccttcgaacacctttgtcctagaatattgt
ggagaggtactcgatcataaagagtttaaagctcgagtgaaggagtatgcacgaaacaaa
aacatccattactatttcatggccctgaagaatgatgagataatagatgccactcaaaaa
ggaaattgctctcgtttcatgaatcacagctgtgaaccaaattgtgaaacccaaaaatgg
actgtgaacggacaactgagggttgggttttttaccaccaaactggttccttcaggctca
gagttaacgtttgactatcagttccagagatatggaaaagaagcccagaaatgtttctgc
ggatcagccaattgccggggttacctgggaggagaaaacagagtcagcatcagagcagca
ggagggaaaatgaagaaggaacgatctcgtaagaaggattcagtggatggagagctagaa
gctctgatggaaaatggtgagggtctctctgataaaaaccaggtgctcagcttatcccgg
ctaatggttagaattgaaactttggagcagaaacttacctgtctggaactcatacagaac
acacactcacagtcctgcctgaagtcctttctggaacgtcatgggctgtctttgttgtgg
atctggatggcagagctaggtgacggccgggaaagtaaccagaagcttcaggaagagatt
ataaagactttggaacacttgcccattcctactaaaaatatgttggaggaaagcaaagta
cttccaattattcaacgctggtctcagactaagactgctgtccctccgttgagtgaagga
gatgggtattctagtgagaatacatcgcgtgctcatacaccactcaacacacctgatcct
tccaccaagctgagcacagaagctgacacagacactcccaagaaactaatgtttcgcaga
ctgaaaattataagtgaaaatagcatggacagtgcaatctctgatgcaaccagtgagcta
gaaggcaaggatggcaaagaggatcttgatcaattagaaaatgtccctgtagaggaagag
gaagaattgcagtcacaacagctactcccacaacagctgcctgaatgcaaagttgatagt
gaaaccaacatagaagctagtaagctacctacatctgaaccagaagctgacgctgaaata
gagcccaaagagagcaacggcacaaaactagaagaacctattaatgaagaaacaccatcc
caagatgaagaggagggtgtgtctgatgtggagagtgaaaggagccaagaacagccagat
aaaacagtggatataagtgatttggccaccaaactcctggacagttggaaagacctaaag
gaggtatatcgaattccaaagaaaagtcaaactgaaaaggaaaacacaacaactgaacga
ggaagggatgctgttggcttcagagatcaaacacctgccccgaagactcctaataggtca
agagagagagacccagacaagcaaactcaaaataaagagaaaaggaaacgaagaagctcc
ctctcaccaccctcttctgcctatgagcggggaacaaaaaggccagatgacagatatgat
acaccaacttctaaaaagaaagtacgaattaaagaccgcaataaactttctacagaggaa
cgccggaagttgtttgagcaagaggtggctcaacgggaggctcagaaacaacagcaacag
atgcagaacctgggaatgacatcaccactgccctatgactctcttggttataatgccccg
catcatccctttgctggttacccaccaggttatcccatgcaggcctatgtggatcccagc
aaccctaatgctggaaaggtgctcctgcccacacccagcatggacccagtgtgttctcct
gctccttatgatcatgctcagcccttggtgggacattctacagaacccctttctgcccct
ccaccagtaccagtggtgccacatgtggcagctcctgtggaagtttccagttcccagtat
gtggcccagagtgatggtgtagtacaccaagactccagcgttgctgtcttgccagtgccg
gcccccggcccagttcagggacagaattatagtgtttgggattcaaaccaacagtctgtc
agtgtacagcagcagtactctcctgcacagtctcaagcaaccatatattatcaaggacag
acatgtccaacagtctatggtgtgacatcaccttattcacagacaactccaccaattgta
cagagttatgcccagccaagtcttcagtatatccaggggcaacagattttcacagctcat
ccacaaggagtggtggtacagccagccgcagcagtgactacaatagttgcaccagggcag
cctcagcccttgcagccatctgaaatggttgtgacaaataatctcttggatctgccgccc
ccctctcctcccaaaccaaaaaccattgtcttacctcccaactggaagacagctcgagat
ccagaagggaagatttattactaccatgtgatcacaaggcagactcagtgggatcctcct
acttgggaaagcccaggagatgatgccagccttgagcatgaagctgagatggacctggga
actccaacatatgatgaaaaccccatgaaggcctcgaaaaagcccaagacagcagaagca
gacacctccagtgaactagcaaagaaaagcaaagaagtattcagaaaagagatgtcccag
ttcatcgtccagtgcctgaacccttaccggaaacctgactgcaaagtgggaagaattacc
acaactgaagactttaaacatctggctcgcaagctgactcacggtgttatgaataaggag
ctgaagtactgtaagaatcctgaggacctggagtgcaatgagaatgtgaaacacaaaacc
aaggagtacattaagaagtacatgcagaagtttggggctgtttacaaacccaaagaggac
actgaattagagtga

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Ontology (3)   
   KEGG BRITE (3)   
Pathway (2)   
   KEGG PATHWAY (2)   
Disease (6)   
   KEGG DISEASE (2)   
   OMIM (4)   
Chemical substance (6)   
   KEGG COMPOUND (6)   
Chemical reaction (4)   
   KEGG ENZYME (1)   
   KEGG REACTION (3)   
Genome (1)   
   KEGG GENOME (1)   
Gene (39)   
   KEGG ORTHOLOGY (1)   
   RefGene (32)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   Ensembl (1)   
   RIKEN BRC-DNA (1)   
   OC (1)   
Protein sequence (8)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (6)   
DNA sequence (65)   
   RefSeq(nuc) (13)   
   GenBank (26)   
   EMBL (26)   
3D Structure (28)   
   PDB (28)   
Protein domain (4)   
   Pfam (4)   
All databases (166)   

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