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Basic Information Integrated Annotations
Tag Content
iUUCD ID IUUC-Hsa-046380
Ensembl Protein ID ENSP00000423972.1
UniProt Accession O96028; A2A2T2; A2A2T3; A2A2T4; A7MCZ1; D3DVQ2; O96031; Q4VBY8; Q672J1; Q6IS00; Q86V01; Q9BZB4; Q9UI92; Q9UPR2; NSD2_HUMAN
Genbank Protein ID AAC24150.1; AAC24151.1; AAD19343.1; AAD21770.1; AAD21771.1; AAD19344.1; AAD19345.1; AAD19346.1; AAF23369.1; AAF23369.1; AAF23369.1; AAF23369.1; AAF23369.1; AAF23369.1; AAF23369.1; AAF23369.1; AAF23369.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAF23370.1; AAK00344.1; AAU09264.1; CAB45386.1; BAA83042.2; BAF82386.1; CAM15220.1; CAM15221.1; CAM15
Protein Name Histone-lysine N-methyltransferase NSD2; Multiple myeloma SET domain-containing protein; Nuclear SET domain-containing protein 2; Protein trithorax-5; Wolf-Hirschhorn syndrome candidate 1 protein
Genbank Nucleotide ID AF071593; AF071594; AF083386; AF083387; AF083388; AF083389; AF083390; AF083391; AF178206; AF178199; AF178198; AF178202; AF178204; AF178205; AF178203; AF178201; AF178200; AF178219; AF178198; AF178199; AF178200; AF178202; AF178204; AF178207; AF178216; AF178215; AF178214; AF178213; AF178212; AF178211; AF178210; AF178209; AF178208; AF178218; AF178217; AF178205; AF178203; AF178201; AF330040; AY694128; AJ007042; AB029013; AK289697; AC105448; AL132868; AL132868; CH471131; CH471131; CH471131; CH471131; CH471131; BC052254; BC070176; BC094825; BC141815; BC152
Gene Name WHSC1; NSD2; KIAA1090; MMSET; TRX5
Ensembl Information
Ensembl Gene ID Ensembl Transcript ID Ensembl Protein ID
ENSG00000109685.17 ENST00000508803.5 ENSP00000423972.1
ENSG00000109685.17 ENST00000514045.5 ENSP00000421681.1
ENSG00000109685.17 ENST00000353275.9 ENSP00000329167.5
ENSG00000109685.17 ENST00000512700.1 ENSP00000427516.1
ENSG00000109685.17 ENST00000511904.1 ENSP00000424482.1
ENSG00000109685.17 ENST00000514329.5 ENSP00000425094.1
ENSG00000109685.17 ENST00000382888.3 ENSP00000372344.3
Annotation
Cancer Mutation
TCGAICGCCOSMICCGAP
IntOGen
Single Nucleotide Polymorphisms (SNP)
dbSNP
mRNA Expression
GEOArrayExpressTCGAICGC
COSMICTHPAHPM
DNA & RNA Element
UTRdbAREsitecircBasecircRNADb
CircNetmiRTarBasemicroRNATRANSFAC
miRWalkRepTarSomamiRmiRcode
RAID2
Protein-protein Interaction
IIDiRefIndexPINAHINT
MenthaInWeb_IM
Protein 3D Structure
PDB
Disease-associated Variation
ClinVarGWASdbOMIM
Post-translational Modifications (PTMs)
CPLMdbPAFPhosphositePlusdbPTM
HPRDPhospho.ELMUniProtPHOSIDA
BioGRID
DNA Methylation
MethyCancerTCGAICGCCOSMIC
Protein Expression/Proteomics
THPAHPMGPMDB
Status Unreviewed
Classification
Family E-Value Score Start End
E3 activity/RING/PHD 2.50e-15 58.0 833 873
Active Site
Position(s) Description Evidence
N/A N/A N/A
Domain Profile

   E3 activity/RING/PHD
   S: 3    vClvCgeggedekslveCekCrewfHpaClklsveeelpnsekwiCpkCr 52
           +C vC +gg+    l++Ce C  +fHp+Cl+++    +p+ + w+C++Cr
   Q: 833  WCFVCSKGGS----LLCCESCPAAFHPDCLNIE----MPDGS-WFCNDCR 873
           8*********....*******************....9***8.******8 PP
   
Organism Homo sapiens
Functional Description
(View)

Functional Description


     Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.
 Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity. Isoform 2 may act as a transcription regulator that binds DNA and suppresses IL5 transcription through HDAC recruitment.
Protein Sequence
(Fasta)
MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 60
VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 120
It may take some time, please wait.

Protein Fasta Sequence


>IUUC-Hsa-046380|E3,PHD|Homo sapiens
Please wait for a moment...
Nucleotide Sequence
(Fasta)
CGCTGCGCCC GCCGCCGCCG CCGCCCCCTC CCCGCCTGGG CCCTACCGCC GCACGGCCCC 60
GGCCCCCTCC CAGCCTGCCG CTCCGGAGAG CCGCCCGCCG AGGATGCGAC GCACCGCAGG 120
It may take some time, please wait.

Nucleotide Fasta Sequence


>IUUC-Hsa-046380|E3,PHD|Homo sapiens
Please wait for a moment...
Sequence Source Ensembl
Keyword

KW-0002--3D-structure
KW-0025--Alternative splicing
KW-0156--Chromatin regulator
KW-0160--Chromosomal rearrangement
KW-0158--Chromosome
KW-0181--Complete proteome
KW-0963--Cytoplasm
KW-0238--DNA-binding
KW-0479--Metal-binding
KW-0489--Methyltransferase
KW-0539--Nucleus
KW-0597--Phosphoprotein
KW-0656--Proto-oncogene
KW-1185--Reference proteome
KW-0677--Repeat
KW-0949--S-adenosyl-L-methionine
KW-0804--Transcription
KW-0805--Transcription regulation
KW-0808--Transferase
KW-0862--Zinc
KW-0863--Zinc-finger
Interpro

IPR006560--AWS_dom
IPR009071--HMG_box_dom
IPR003616--Post-SET_dom
IPR000313--PWWP_dom
IPR001214--SET_dom
IPR019786--Zinc_finger_PHD-type_CS
IPR011011--Znf_FYVE_PHD
IPR001965--Znf_PHD
IPR019787--Znf_PHD-finger
IPR001841--Znf_RING
IPR013083--Znf_RING/FYVE/PHD
PROSITE

PS51215--AWS
PS50118--HMG_BOX_2
PS50868--POST_SET
PS50812--PWWP
PS50280--SET
PS01359--ZF_PHD_1
PS50016--ZF_PHD_2
Pfam

PF00505--HMG_box
PF00855--PWWP
PF00856--SET
SMART

SM00570--AWS
SM00398--HMG
SM00249--PHD
SM00508--PostSET
SM00293--PWWP
SM00184--RING
SM00317--SET
Gene Ontology

GO:0005694--C:chromosome
GO:0005737--C:cytoplasm
GO:0005654--C:nucleoplasm
GO:0005634--C:nucleus
GO:0003682--F:chromatin binding
GO:0042799--F:histone methyltransferase activity (H4-K20 specific)
GO:0018024--F:histone-lysine N-methyltransferase activity
GO:0043565--F:sequence-specific DNA binding
GO:0008270--F:zinc ion binding
GO:0009653--P:anatomical structure morphogenesis
GO:0003289--P:atrial septum primum morphogenesis
GO:0003290--P:atrial septum secundum morphogenesis
GO:0060348--P:bone development
GO:0006303--P:double-strand break repair via nonhomologous end joining
GO:0010452--P:histone H3-K36 methylation
GO:0003149--P:membranous septum morphogenesis
GO:0000122--P:negative regulation of transcription from RNA polymerase II promoter
GO:0048298--P:positive regulation of isotype switching to IgA isotypes
GO:2001032--P:regulation of double-strand break repair via nonhomologous end joining
GO:0070201--P:regulation of establishment of protein localization
GO:0006351--P:transcription, DNA-templated
KEGG hsa:7468
Orthology
iUUCD ID Species Identity E-value Score
IUUC-Aml-002181 Ailuropoda melanoleuca 92.26 0.00e+00 2429.00
IUUC-Apl-003677 Anas platyrhynchos 80.95 0.00e+00 2148.00
IUUC-Aca-004278 Anolis carolinensis 75.42 0.00e+00 1407.00
IUUC-Ame-011932 Astyanax mexicanus 70.79 0.00e+00 1027.00
IUUC-Bta-012522 Bos taurus 86.11 0.00e+00 2258.00
IUUC-Cja-018908 Callithrix jacchus 98.13 0.00e+00 2504.00
IUUC-Cfa-020894 Canis familiaris 91.62 0.00e+00 2472.00
IUUC-Cpo-021982 Cavia porcellus 89.47 0.00e+00 2379.00
IUUC-Csa-023807 Chlorocebus sabaeus 98.58 0.00e+00 2538.00
IUUC-Cho-024405 Choloepus hoffmanni 74.01 0.00e+00 733.00
IUUC-Csv-026298 Ciona savignyi 39.29 1.00e-57 217.00
IUUC-Dre-027492 Danio rerio 71.61 0.00e+00 1066.00
IUUC-Dno-030020 Dasypus novemcinctus 87.48 0.00e+00 2078.00
IUUC-Dor-031103 Dipodomys ordii 84.76 0.00e+00 2157.00
IUUC-Ete-032488 Echinops telfairi 81.89 0.00e+00 2142.00
IUUC-Eca-034066 Equus caballus 93.35 0.00e+00 2499.00
IUUC-Eeu-035199 Erinaceus europaeus 71.16 0.00e+00 761.00
IUUC-Fca-035434 Felis catus 87.06 0.00e+00 1989.00
IUUC-Fal-037113 Ficedula albicollis 78.95 0.00e+00 2157.00
IUUC-Gmo-039686 Gadus morhua 70.62 0.00e+00 1017.00
IUUC-Gga-040273 Gallus gallus 79.18 0.00e+00 2126.00
IUUC-Gac-042123 Gasterosteus aculeatus 51.05 0.00e+00 1258.00
IUUC-Ggo-044643 Gorilla gorilla 99.63 0.00e+00 2593.00
IUUC-Itr-048658 Ictidomys tridecemlineatus 93.13 0.00e+00 1446.00
IUUC-Lch-050217 Latimeria chalumnae 67.09 0.00e+00 1751.00
IUUC-Lpe-051201 Leersia perrieri 28.48 1.00e-10 61.60
IUUC-Loc-052766 Lepisosteus oculatus 59.06 0.00e+00 1287.00
IUUC-Laf-053780 Loxodonta africana 89.77 0.00e+00 2432.00
IUUC-Mcc-054928 Macaca mulatta 98.73 0.00e+00 2573.00
IUUC-Meu-056184 Macropus eugenii 75.36 0.00e+00 790.00
IUUC-Mga-059576 Meleagris gallopavo 79.91 0.00e+00 2131.00
IUUC-Mmr-061045 Microcebus murinus 93.05 0.00e+00 2479.00
IUUC-Mdo-062576 Monodelphis domestica 83.20 0.00e+00 2220.00
IUUC-Mmu-063640 Mus musculus 91.26 0.00e+00 2383.00
IUUC-Mac-065303 Musa acuminata 29.22 3.00e-11 63.90
IUUC-Mpu-066512 Mustela putorius furo 92.49 0.00e+00 2431.00
IUUC-Mlu-067280 Myotis lucifugus 80.46 0.00e+00 1103.00
IUUC-Nle-069896 Nomascus leucogenys 99.69 0.00e+00 2464.00
IUUC-Ont-072197 Oreochromis niloticus 73.44 0.00e+00 1039.00
IUUC-Oan-072724 Ornithorhynchus anatinus 78.99 0.00e+00 1368.00
IUUC-Ocu-074758 Oryctolagus cuniculus 89.71 0.00e+00 2311.00
IUUC-Olo-080702 Oryza longistaminata 41.47 4.00e-45 177.00
IUUC-Opu-083371 Oryza punctata 41.88 1.00e-46 182.00
IUUC-Oga-088702 Otolemur garnettii 92.51 0.00e+00 2142.00
IUUC-Oar-089736 Ovis aries 81.28 0.00e+00 1993.00
IUUC-Ptr-091055 Pan troglodytes 99.85 0.00e+00 2568.00
IUUC-Pan-092752 Papio anubis 99.74 0.00e+00 1476.00
IUUC-Psi-093620 Pelodiscus sinensis 80.58 0.00e+00 2160.00
IUUC-Pfo-097464 Poecilia formosa 50.94 0.00e+00 1222.00
IUUC-Pab-098051 Pongo abelii 99.63 0.00e+00 2594.00
IUUC-Pop-099927 Populus trichocarpa 28.96 7.00e-12 66.20
IUUC-Pca-100273 Procavia capensis 89.46 0.00e+00 2368.00
IUUC-Pva-102473 Pteropus vampyrus 79.55 0.00e+00 1969.00
IUUC-Rno-105056 Rattus norvegicus 90.75 0.00e+00 2384.00
IUUC-Sha-107494 Sarcophilus harrisii 84.05 0.00e+00 2207.00
IUUC-Sar-113310 Sorex araneus 91.39 0.00e+00 1894.00
IUUC-Sbi-114581 Sorghum bicolor 35.19 7.00e-10 58.20
IUUC-Ssc-116344 Sus scrofa 85.84 0.00e+00 2265.00
IUUC-Tgu-116786 Taeniopygia guttata 80.63 0.00e+00 2157.00
IUUC-Tru-117638 Takifugu rubripes 50.98 0.00e+00 1242.00
IUUC-Tsy-118937 Tarsius syrichta 97.19 0.00e+00 1565.00
IUUC-Tni-120452 Tetraodon nigroviridis 53.92 0.00e+00 1179.00
IUUC-Tae-125237 Triticum aestivum 31.51 2.00e-07 50.10
IUUC-Tbe-127291 Tupaia belangeri 88.51 0.00e+00 1532.00
IUUC-Ttr-129017 Tursiops truncatus 83.90 0.00e+00 1790.00
IUUC-Xtr-132673 Xenopus tropicalis 67.47 0.00e+00 1783.00
Created Date 25-Jun-2017

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