KEGG   Homo sapiens (human): 7468Help
Entry
7468              CDS       T01001                                 

Gene name
NSD2, KMT3F, KMT3G, MMSET, REIIBP, TRX5, WHS, WHSC1
Definition
(RefSeq) nuclear receptor binding SET domain protein 2
  KO
K11424  [histone H3]-lysine36 N-dimethyltransferase NSD2 [EC:2.1.1.357]
Organism
hsa  Homo sapiens (human)
Pathway
hsa00310  Lysine degradation
hsa05202  Transcriptional misregulation in cancer
Network
nt06240  Transcription
  Element
N00125  IGH-MMSET fusion to transcriptional activation
Disease
H00010  Multiple myeloma
H01773  4p deletion syndrome
Brite
KEGG Orthology (KO) [BR:hsa00001]
 09100 Metabolism
  09105 Amino acid metabolism
   00310 Lysine degradation
    7468 (NSD2)
 09160 Human Diseases
  09161 Cancer: overview
   05202 Transcriptional misregulation in cancer
    7468 (NSD2)
 09180 Brite Hierarchies
  09182 Protein families: genetic information processing
   03036 Chromosome and associated proteins [BR:hsa03036]
    7468 (NSD2)
Enzymes [BR:hsa01000]
 2. Transferases
  2.1  Transferring one-carbon groups
   2.1.1  Methyltransferases
    2.1.1.357  [histone H3]-lysine36 N-dimethyltransferase
     7468 (NSD2)
Chromosome and associated proteins [BR:hsa03036]
 Eukaryotic type
  Histone modification proteins
   HMTs (histone methyltransferases)
    HKMTs (histone lysine methyltransferases)
     7468 (NSD2)
BRITE hierarchy
SSDB OrthologParalogGFIT
Motif
Pfam: PWWP SET AWS C5HCH PHD HMG_box HMG_box_2 zf-HC5HC2H zf-HC5HC2H_2
Motif
Other DBs
NCBI-GeneID: 7468
NCBI-ProteinID: NP_001035889
OMIM: 602952
HGNC: 12766
Ensembl: ENSG00000109685
Vega: OTTHUMG00000121147
Pharos: O96028(Tbio)
UniProt: O96028
LinkDB All DBs
Structure
PDB: 

Position
4p16.3
AA seq 1365 aa AA seqDB search
MEFSIKQSPLSVQSVVKCIKMKQAPEILGSANGKTPSCEVNRECSVFLSKAQLSSSLQEG
VMQKFNGHDALPFIPADKLKDLTSRVFNGEPGAHDAKLRFESQEMKGIGTPPNTTPIKNG
SPEIKLKITKTYMNGKPLFESSICGDSAADVSQSEENGQKPENKARRNRKRSIKYDSLLE
QGLVEAALVSKISSPSDKKIPAKKESCPNTGRDKDHLLKYNVGDLVWSKVSGYPWWPCMV
SADPLLHSYTKLKGQKKSARQYHVQFFGDAPERAWIFEKSLVAFEGEGQFEKLCQESAKQ
APTKAEKIKLLKPISGKLRAQWEMGIVQAEEAASMSVEERKAKFTFLYVGDQLHLNPQVA
KEAGIAAESLGEMAESSGVSEEAAENPKSVREECIPMKRRRRAKLCSSAETLESHPDIGK
STPQKTAEADPRRGVGSPPGRKKTTVSMPRSRKGDAASQFLVFCQKHRDEVVAEHPDASG
EEIEELLRSQWSLLSEKQRARYNTKFALVAPVQAEEDSGNVNGKKRNHTKRIQDPTEDAE
AEDTPRKRLRTDKHSLRKRDTITDKTARTSSYKAMEAASSLKSQAATKNLSDACKPLKKR
NRASTAASSALGFSKSSSPSASLTENEVSDSPGDEPSESPYESADETQTEVSVSSKKSER
GVTAKKEYVCQLCEKPGSLLLCEGPCCGAFHLACLGLSRRPEGRFTCSECASGIHSCFVC
KESKTDVKRCVVTQCGKFYHEACVKKYPLTVFESRGFRCPLHSCVSCHASNPSNPRPSKG
KMMRCVRCPVAYHSGDACLAAGCSVIASNSIICTAHFTARKGKRHHAHVNVSWCFVCSKG
GSLLCCESCPAAFHPDCLNIEMPDGSWFCNDCRAGKKLHFQDIIWVKLGNYRWWPAEVCH
PKNVPPNIQKMKHEIGEFPVFFFGSKDYYWTHQARVFPYMEGDRGSRYQGVRGIGRVFKN
ALQEAEARFREIKLQREARETQESERKPPPYKHIKVNKPYGKVQIYTADISEIPKCNCKP
TDENPCGFDSECLNRMLMFECHPQVCPAGEFCQNQCFTKRQYPETKIIKTDGKGWGLVAK
RDIRKGEFVNEYVGELIDEEECMARIKHAHENDITHFYMLTIDKDRIIDAGPKGNYSRFM
NHSCQPNCETLKWTVNGDTRVGLFAVCDIPAGTELTFNYNLDCLGNEKTVCRCGASNCSG
FLGDRPKTSTTLSSEEKGKKTKKKTRRRRAKGEGKRQSEDECFRCGDGGQLVLCDRKFCT
KAYHLSCLGLGKRPFGKWECPWHHCDVCGKPSTSFCHLCPNSFCKEHQDGTAFSCTPDGR
SYCCEHDLGAASVRSTKTEKPPPEPGKPKGKRRRRRGWRRVTEGK
NT seq 4098 nt NT seq  +upstreamnt  +downstreamnt
atggaatttagcatcaagcagagtcccctttctgttcagagtgttgtaaagtgcataaag
atgaagcaggcaccagaaatcctcggcagtgccaacgggaagactccgagctgcgaggtg
aaccgcgagtgttctgtgttcctcagcaaagcccagctctccagtagcctgcaggagggg
gtcatgcagaagtttaacggccacgacgccctgccctttattccagccgacaagctgaaa
gatcttacttcccgggtgtttaatggagaacccggcgcacacgatgccaaactgcgtttt
gagtcccaggaaatgaaagggattgggacaccccctaacactacccctatcaaaaatggc
tctccagaaattaagctgaaaatcaccaaaacatacatgaatgggaagcctctctttgaa
tcttccatttgtggtgacagtgctgctgatgtgtctcagtcagaagaaaatggacaaaaa
ccagaaaacaaggcgagaaggaacaggaagaggagcataaaatatgactccttgctggag
cagggccttgtcgaagcagctcttgtgtctaagatctcaagtccttcagataaaaagatt
ccagctaagaaagagtcttgtccaaacactggaagagacaaagaccacctgttgaaatac
aacgttggtgatttggtgtggtccaaagtgtcgggttacccttggtggccttgcatggtt
tctgcagatccactccttcacagctataccaaacttaaaggtcagaaaaagagtgcacgc
cagtatcacgtacagttctttggtgacgccccagaaagagcttggatatttgagaagagc
ctcgtagcttttgaaggagaaggacagtttgaaaaattatgccaggaaagtgccaagcag
gcacccacgaaagctgagaaaattaagctattgaaaccaatttcagggaaattgagggcc
cagtgggaaatgggcattgttcaagcagaagaagctgcaagcatgtcagtggaggagcgg
aaagccaagttcacctttctctatgtgggggaccagcttcatctcaaccctcaagtagcc
aaggaggctggcattgctgcagagtctttgggagaaatggcagaatcctcaggagtcagt
gaagaagctgctgaaaaccccaagtctgtgagagaagagtgcattcccatgaagagaagg
cggagggccaaactgtgtagctctgcagagaccctggagagtcaccccgacatagggaag
agtactcctcaaaagacggcagaggctgaccccagaagaggagtagggtctcctcctggg
aggaagaagaccacagtctccatgccacgaagcaggaagggagatgcagcatcccagttt
ttggtcttctgtcaaaaacacagggatgaggtggtagctgagcacccagatgcttcaggt
gaggagattgaagagctgctcaggtcacagtggagtctgctgagtgagaagcagagagca
cgctacaacaccaagtttgccctggtggcccctgtccaggctgaagaagactctggtaat
gtaaatgggaaaaaaagaaaccacacaaagaggatacaggaccctacagaagatgctgaa
gctgaggacacacccaggaaaagactcaggacggacaagcacagtcttcggaagagagac
acaatcactgacaaaacggccagaacaagctcttacaaggccatggaggcagcctcctcg
ctcaagagccaggcagcaacgaaaaatctgtctgatgcatgtaaaccactgaagaagcga
aatcgggcttccacggcagcatcttcagctcttgggtttagcaaaagttcatctccttct
gcatccttaactgagaatgaggtctcggacagcccgggagacgagccctcggagtcccca
tacgaaagtgcagacgaaacacaaactgaagtatctgtctcatccaaaaagtctgagcga
ggagtgactgccaaaaaggagtatgtgtgccagctgtgtgagaagccgggcagcctcctg
ctctgtgaaggaccctgctgcggagctttccacctcgcctgccttgggctttcccggagg
ccagaagggaggttcacctgcagcgagtgtgcctcagggattcactcatgtttcgtgtgt
aaagagagcaagacagatgttaagcgctgtgtggtaactcagtgtggaaaattttaccat
gaggcttgtgtgaaaaaataccctctgactgtatttgagagccgaggtttccgctgcccc
ctccacagctgtgtgagctgccatgcttccaacccttcaaacccaaggccgtcaaaaggt
aaaatgatgcggtgtgtccgctgccccgttgcctatcacagcggggatgcttgtctggca
gcaggatgctcagtgatcgcctccaacagcatcatctgcactgcccacttcactgctcgg
aaggggaagcgacaccacgcccacgtcaacgtgagctggtgcttcgtgtgctccaaaggg
gggagccttctgtgctgtgagtcctgcccagcggccttccaccctgactgcctgaacatc
gagatgcctgacggcagctggttctgcaatgactgcagggctgggaagaagctgcacttc
caggatatcatttgggtgaaacttgggaactacagatggtggccggcagaagtttgccat
cccaaaaatgttcccccaaatattcagaaaatgaagcacgagattggagaattccctgtg
tttttctttgggtctaaagattattactggacgcatcaggcgcgagtgttcccgtacatg
gagggggaccggggcagccgctaccagggggtcagagggatcggaagagtcttcaaaaac
gcactgcaagaagctgaagctcgttttcgtgaaattaagcttcagagggaagcccgagaa
acacaggagagcgagcgcaagcccccaccatacaagcacatcaaggtgaataagccttac
gggaaagtccagatctacacagcggatatttcagaaatccctaagtgcaactgcaagccc
acagatgagaatccttgtggctttgattcggagtgtctgaacaggatgctgatgtttgag
tgccacccgcaggtgtgtcccgcgggcgagttctgccagaaccagtgcttcaccaagcgc
cagtacccagagaccaagatcatcaagacagatggcaaagggtggggcctggtcgccaag
agggacatcagaaagggagaatttgttaacgagtacgttggggagctgatcgacgaggag
gagtgcatggcgagaatcaagcacgcacacgagaacgacatcacccacttctacatgctc
actatagacaaggaccgtataatagacgctggccccaaaggaaactactctcgatttatg
aatcacagctgccagcccaactgtgagaccctcaagtggacagtgaatggggacactcgt
gtgggcctgtttgccgtctgtgacattcctgcagggacggagctgacttttaactacaac
ctcgattgtctgggcaatgaaaaaacggtctgccggtgtggagcctccaattgcagtgga
ttcctcggggatagaccaaagacctcgacgaccctttcatcagaggaaaagggcaaaaag
accaagaagaaaacgaggcggcgcagagcaaaaggggaagggaagaggcagtcagaggac
gagtgcttccgctgcggtgatggcgggcagctggtgctgtgtgaccgcaagttctgcacc
aaggcctaccacctgtcctgcctgggccttggcaagcggcccttcgggaagtgggaatgt
ccttggcatcattgtgacgtgtgtggcaaaccttcgacttcattttgccacctctgcccc
aattcgttctgtaaggagcaccaggacgggacagccttcagctgcaccccggacgggcgg
tcctactgctgtgagcatgacttaggggcggcatcggtcagaagcaccaagactgagaag
ccccccccagagccagggaagccgaaggggaagaggcggcggcggaggggctggcggaga
gtcacagagggcaaatag

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