KEGG   Homo sapiens (human): 2146
Entry
2146              CDS       T01001                                 
Symbol
EZH2, ENX-1, ENX1, EZH2b, KMT6, KMT6A, WVS, WVS2
Name
(RefSeq) histone-lysine N-methyltransferase EZH2 isoform c
  KO
K11430  [histone H3]-lysine27 N-trimethyltransferase EZH2 [EC:2.1.1.356]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa01100  Metabolic pathways
hsa03083  Polycomb repressive complex
hsa05206  MicroRNAs in cancer
Network
nt06523  Epigenetic regulation by Polycomb complexes
  Element
N01577  Gene silencing by methylation of H3K27 and ubiquitination of H2AK119
N01586  Activation of PRC2.2 by ubiquitination of H2AK119
N01614  Activation of PRC2.2 by ubiquitination of H2AK119 in germline genes
Disease
H01613  Follicular lymphoma
H01751  Weaver syndrome
H02410  Myelodysplastic/myeloproliferative neoplasms
H02411  Chronic myelomonocytic leukemia
H02412  Atypical chronic myeloid leukemia
H02434  Diffuse large B-cell lymphoma, not otherwise specified
Drug target
Mevrometostat: D12845
Tazemetostat (DG03020): D11444 D11485<JP/US>
Tulmimetostat: D12602
Valemetostat (DG03075): D11551 D11662<JP>
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    2146 (EZH2)
 09120 Genetic Information Processing
  09126 Chromosome
   03083 Polycomb repressive complex
    2146 (EZH2)
 09160 Human Diseases
  09161 Cancer: overview
   05206 MicroRNAs in cancer
    2146 (EZH2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    2146 (EZH2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.356  [histone H3]-lysine27 N-trimethyltransferase
     2146 (EZH2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     2146 (EZH2)
   Polycomb repressive complex (PRC) and associated proteins
    PRC2.1
     2146 (EZH2)
    PRC2.2
     2146 (EZH2)
SSDB
Motif
Pfam: Ezh2_MCSS PRC2_HTH_1 SET EZH2_WD-Binding preSET_CXC
Other DBs
NCBI-GeneID: 2146
NCBI-ProteinID: NP_001190176
OMIM: 601573
HGNC: 3527
UniProt: Q15910
Structure
Position
7:complement(148807383..148884291)
AA seq 746 aa
MGQTGKKSEKGPVCWRKRVKSEYMRLRQLKRFRRADEVKSMFSSNRQKILERTEILNQEW
KQRRIQPVHILTSVSSLRGTRECSVTSDLDFPTQVIPLKTLNAVASVPIMYSWSPLQQNF
MVEDETVLHNIPYMGDEVLDQDGTFIEELIKNYDGKVHGDRECGFINDEIFVELVNALGQ
YNDDDDDDDGDDPEEREEKQKDLEDHRDDKESRPPRKFPSDKIFEAISSMFPDKGTAEEL
KEKYKELTEQQLPGALPPECTPNIDGPNAKSVQREQSLHSFHTLFCRRCFKYDCFLHPFH
ATPNTYKRKNTETALDNKPCGPQCYQHLEGAKEFAAALTAERIKTPPKRPGGRRRGRLPN
NSSRPSTPTINVLESKDTDSDREAGTETGGENNDKEEEEKKDETSSSSEANSRCQTPIKM
KPNIEPPENVEWSGAEASMFRVLIGTYYDNFCAIARLIGTKTCRQVYEFRVKESSIIAPA
PAEDVDTPPRKKKRKHRLWAAHCRKIQLKKDGSSNHVYNYQPCDHPRQPCDSSCPCVIAQ
NFCEKFCQCSSECQNRFPGCRCKAQCNTKQCPCYLAVRECDPDLCLTCGAADHWDSKNVS
CKNCSIQRGSKKHLLLAPSDVAGWGIFIKDPVQKNEFISEYCGEIISQDEADRRGKVYDK
YMCSFLFNLNNDFVVDATRKGNKIRFANHSVNPNCYAKVMMVNGDHRIGIFAKRAIQTGE
ELFFDYRYSQADALKYVGIEREMEIP
NT seq 2241 nt   +upstreamnt  +downstreamnt
atgggccagactgggaagaaatctgagaagggaccagtttgttggcggaagcgtgtaaaa
tcagagtacatgcgactgagacagctcaagaggttcagacgagctgatgaagtaaagagt
atgtttagttccaatcgtcagaaaattttggaaagaacggaaatcttaaaccaagaatgg
aaacagcgaaggatacagcctgtgcacatcctgacttctgtgagctcattgcgcgggact
agggagtgttcggtgaccagtgacttggattttccaacacaagtcatcccattaaagact
ctgaatgcagttgcttcagtacccataatgtattcttggtctcccctacagcagaatttt
atggtggaagatgaaactgttttacataacattccttatatgggagatgaagttttagat
caggatggtactttcattgaagaactaataaaaaattatgatgggaaagtacacggggat
agagaatgtgggtttataaatgatgaaatttttgtggagttggtgaatgcccttggtcaa
tataatgatgatgacgatgatgatgatggagacgatcctgaagaaagagaagaaaagcag
aaagatctggaggatcaccgagatgataaagaaagccgcccacctcggaaatttccttct
gataaaatttttgaagccatttcctcaatgtttccagataagggcacagcagaagaacta
aaggaaaaatataaagaactcaccgaacagcagctcccaggcgcacttcctcctgaatgt
acccccaacatagatggaccaaatgctaaatctgttcagagagagcaaagcttacactcc
tttcatacgcttttctgtaggcgatgttttaaatatgactgcttcctacatccttttcat
gcaacacccaacacttataagcggaagaacacagaaacagctctagacaacaaaccttgt
ggaccacagtgttaccagcatttggagggagcaaaggagtttgctgctgctctcaccgct
gagcggataaagaccccaccaaaacgtccaggaggccgcagaagaggacggcttcccaat
aacagtagcaggcccagcacccccaccattaatgtgctggaatcaaaggatacagacagt
gatagggaagcagggactgaaacggggggagagaacaatgataaagaagaagaagagaag
aaagatgaaacttcgagctcctctgaagcaaattctcggtgtcaaacaccaataaagatg
aagccaaatattgaacctcctgagaatgtggagtggagtggtgctgaagcctcaatgttt
agagtcctcattggcacttactatgacaatttctgtgccattgctaggttaattgggacc
aaaacatgtagacaggtgtatgagtttagagtcaaagaatctagcatcatagctccagct
cccgctgaggatgtggatactcctccaaggaaaaagaagaggaaacaccggttgtgggct
gcacactgcagaaagatacagctgaaaaaggacggctcctctaaccatgtttacaactat
caaccctgtgatcatccacggcagccttgtgacagttcgtgcccttgtgtgatagcacaa
aatttttgtgaaaagttttgtcaatgtagttcagagtgtcaaaaccgctttccgggatgc
cgctgcaaagcacagtgcaacaccaagcagtgcccgtgctacctggctgtccgagagtgt
gaccctgacctctgtcttacttgtggagccgctgaccattgggacagtaaaaatgtgtcc
tgcaagaactgcagtattcagcggggctccaaaaagcatctattgctggcaccatctgac
gtggcaggctgggggatttttatcaaagatcctgtgcagaaaaatgaattcatctcagaa
tactgtggagagattatttctcaagatgaagctgacagaagagggaaagtgtatgataaa
tacatgtgcagctttctgttcaacttgaacaatgattttgtggtggatgcaacccgcaag
ggtaacaaaattcgttttgcaaatcattcggtaaatccaaactgctatgcaaaagttatg
atggttaacggtgatcacaggataggtatttttgccaagagagccatccagactggcgaa
gagctgttttttgattacagatacagccaggctgatgccctgaagtatgtcggcatcgaa
agagaaatggaaatcccttga

  All links  
Disease (2)   
   OMIM (2)   
Gene (18)   
   RefGene (9)   
   NCBI-PROTEINID (1)   
   NCBI-Gene (1)   
   HGNC (1)   
   RIKEN BRC-DNA (5)   
   OC (1)   
Protein sequence (82)   
   UniProt (1)   
   SWISS-PROT (1)   
   RefSeq(pep) (80)   
DNA sequence (166)   
   RefSeq(nuc) (80)   
   GenBank (43)   
   EMBL (43)   
3D Structure (38)   
   PDB (38)   
Protein domain (5)   
   Pfam (5)   
All databases (311)   

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