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Protein

Histone-lysine N-methyltransferase NSD2

Gene

NSD2

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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.3 Publications

Catalytic activityi

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N6-methyl-L-lysine-[histone].1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi453 – 521HMG boxPROSITE-ProRule annotationAdd BLAST69
Zinc fingeri667 – 713PHD-type 1PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri714 – 770PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri831 – 875PHD-type 3PROSITE-ProRule annotationAdd BLAST45
Zinc fingeri1239 – 1286PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionChromatin regulator, DNA-binding, Methyltransferase, Transferase
Biological processTranscription, Transcription regulation
LigandMetal-binding, S-adenosyl-L-methionine, Zinc

Enzyme and pathway databases

BRENDAi2.1.1.43 2681
ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-69473 G2/M DNA damage checkpoint
SIGNORiO96028

Names & Taxonomyi

Protein namesi
Recommended name:
Histone-lysine N-methyltransferase NSD2 (EC:2.1.1.43)
Alternative name(s):
Multiple myeloma SET domain-containing protein
Short name:
MMSET
Nuclear SET domain-containing protein 2
Protein trithorax-5
Wolf-Hirschhorn syndrome candidate 1 protein
Gene namesi
Name:NSD2Imported
Synonyms:KIAA1090, MMSET, TRX5, WHSC1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 4

Organism-specific databases

EuPathDBiHostDB:ENSG00000109685.17
HGNCiHGNC:12766 NSD2
MIMi602952 gene
neXtProtiNX_O96028

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Chromosome, Cytoplasm, Nucleus

Pathology & Biotechi

Involvement in diseasei

A chromosomal aberration involving NSD2 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH.
NSD2 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. NSD2 is deleted in every case, however deletion of linked genes contributes to both the severity of the core characteristics and the presence of the additional syndromic problems.

Keywords - Diseasei

Proto-oncogene

Organism-specific databases

DisGeNETi7468
GeneReviewsiWHSC1
MalaCardsiNSD2
OpenTargetsiENSG00000109685
Orphaneti280 Wolf-Hirschhorn syndrome
PharmGKBiPA37369

Chemistry databases

ChEMBLiCHEMBL3108645

Polymorphism and mutation databases

BioMutaiWHSC1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002595191 – 1365Histone-lysine N-methyltransferase NSD2Add BLAST1365

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphothreonineCombined sources1
Modified residuei114PhosphothreonineCombined sources1
Modified residuei121PhosphoserineCombined sources1
Modified residuei172PhosphoserineCombined sources1
Modified residuei376PhosphoserineCombined sources1
Modified residuei422PhosphothreonineCombined sources1
Modified residuei544PhosphothreonineCombined sources1
Modified residuei614PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO96028
MaxQBiO96028
PaxDbiO96028
PeptideAtlasiO96028
PRIDEiO96028
ProteomicsDBi51216
51217 [O96028-2]
51218 [O96028-3]
51219 [O96028-4]
51220 [O96028-5]
51221 [O96028-6]
51222 [O96028-7]

PTM databases

iPTMnetiO96028
PhosphoSitePlusiO96028

Expressioni

Tissue specificityi

Widely expressed.1 Publication

Gene expression databases

BgeeiENSG00000109685 Expressed in 223 organ(s), highest expression level in testis
ExpressionAtlasiO96028 baseline and differential
GenevisibleiO96028 HS

Organism-specific databases

HPAiCAB068246
CAB068247
HPA015801

Interactioni

Binary interactionsi

Protein-protein interaction databases

BioGridi113306, 72 interactors
DIPiDIP-57224N
IntActiO96028, 6 interactors
MINTiO96028
STRINGi9606.ENSP00000372347

Chemistry databases

BindingDBiO96028

Structurei

Secondary structure

11365
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliO96028
SMRiO96028
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini222 – 286PWWP 1PROSITE-ProRule annotationAdd BLAST65
Domaini880 – 942PWWP 2PROSITE-ProRule annotationAdd BLAST63
Domaini1011 – 1061AWSPROSITE-ProRule annotationAdd BLAST51
Domaini1063 – 1180SETPROSITE-ProRule annotationAdd BLAST118
Domaini1187 – 1203Post-SETPROSITE-ProRule annotationAdd BLAST17

Sequence similaritiesi

Zinc finger

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Zinc fingeri667 – 713PHD-type 1PROSITE-ProRule annotationAdd BLAST47
Zinc fingeri714 – 770PHD-type 2PROSITE-ProRule annotationAdd BLAST57
Zinc fingeri831 – 875PHD-type 3PROSITE-ProRule annotationAdd BLAST45
Zinc fingeri1239 – 1286PHD-type 4; atypicalPROSITE-ProRule annotationAdd BLAST48

Keywords - Domaini

Repeat, Zinc-finger

Phylogenomic databases

eggNOGiKOG1081 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00780000121845
HOGENOMiHOG000230892
HOVERGENiHBG053345
InParanoidiO96028
KOiK11424
OMAiCMARIKY
OrthoDBiEOG091G00XD
PhylomeDBiO96028
TreeFamiTF329088

Family and domain databases

Gene3Di1.10.30.10, 1 hit
3.30.40.10, 4 hits
InterProiView protein in InterPro
IPR006560 AWS_dom
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
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
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF00855 PWWP, 2 hits
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM00570 AWS, 1 hit
SM00398 HMG, 1 hit
SM00249 PHD, 4 hits
SM00508 PostSET, 1 hit
SM00293 PWWP, 2 hits
SM00184 RING, 2 hits
SM00317 SET, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
SSF57903 SSF57903, 3 hits
PROSITEiView protein in PROSITE
PS51215 AWS, 1 hit
PS50118 HMG_BOX_2, 1 hit
PS50868 POST_SET, 1 hit
PS50812 PWWP, 2 hits
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 2 hits

Sequences (7+)i

Sequence statusi: Complete.

This entry describes 7 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 7 described isoforms and 5 potential isoforms that are computationally mapped.iShow all

Isoform 1 (identifier: O96028-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK
60 70 80 90 100
AQLSSSLQEG VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF
110 120 130 140 150
ESQEMKGIGT PPNTTPIKNG SPEIKLKITK TYMNGKPLFE SSICGDSAAD
160 170 180 190 200
VSQSEENGQK PENKARRNRK RSIKYDSLLE QGLVEAALVS KISSPSDKKI
210 220 230 240 250
PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV SADPLLHSYT
260 270 280 290 300
KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ
310 320 330 340 350
APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG
360 370 380 390 400
DQLHLNPQVA KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR
410 420 430 440 450
RRAKLCSSAE TLESHPDIGK STPQKTAEAD PRRGVGSPPG RKKTTVSMPR
460 470 480 490 500
SRKGDAASQF LVFCQKHRDE VVAEHPDASG EEIEELLRSQ WSLLSEKQRA
510 520 530 540 550
RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE AEDTPRKRLR
560 570 580 590 600
TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR
610 620 630 640 650
NRASTAASSA LGFSKSSSPS ASLTENEVSD SPGDEPSESP YESADETQTE
660 670 680 690 700
VSVSSKKSER GVTAKKEYVC QLCEKPGSLL LCEGPCCGAF HLACLGLSRR
710 720 730 740 750
PEGRFTCSEC ASGIHSCFVC KESKTDVKRC VVTQCGKFYH EACVKKYPLT
760 770 780 790 800
VFESRGFRCP LHSCVSCHAS NPSNPRPSKG KMMRCVRCPV AYHSGDACLA
810 820 830 840 850
AGCSVIASNS IICTAHFTAR KGKRHHAHVN VSWCFVCSKG GSLLCCESCP
860 870 880 890 900
AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH
910 920 930 940 950
PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG
960 970 980 990 1000
VRGIGRVFKN ALQEAEARFR EIKLQREARE TQESERKPPP YKHIKVNKPY
1010 1020 1030 1040 1050
GKVQIYTADI SEIPKCNCKP TDENPCGFDS ECLNRMLMFE CHPQVCPAGE
1060 1070 1080 1090 1100
FCQNQCFTKR QYPETKIIKT DGKGWGLVAK RDIRKGEFVN EYVGELIDEE
1110 1120 1130 1140 1150
ECMARIKHAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM NHSCQPNCET
1160 1170 1180 1190 1200
LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG
1210 1220 1230 1240 1250
FLGDRPKTST TLSSEEKGKK TKKKTRRRRA KGEGKRQSED ECFRCGDGGQ
1260 1270 1280 1290 1300
LVLCDRKFCT KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP
1310 1320 1330 1340 1350
NSFCKEHQDG TAFSCTPDGR SYCCEHDLGA ASVRSTKTEK PPPEPGKPKG
1360
KRRRRRGWRR VTEGK
Length:1,365
Mass (Da):152,258
Last modified:May 1, 1999 - v1
Checksum:i7B3128E1FA893AAA
GO
Isoform 2 (identifier: O96028-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-652: Missing.
     653-712: VSSKKSERGV...GRFTCSECAS → MAGSFCWRML...SLHPFFNFLL

Show »
Length:713
Mass (Da):80,777
Checksum:iA48D9FB6E1D06EB3
GO
Isoform 3 (identifier: O96028-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     628-647: VSDSPGDEPSESPYESADET → LLWEPTPVKLDLNPAALYCT
     648-1365: Missing.

Show »
Length:647
Mass (Da):71,410
Checksum:i84D0A99908BD7674
GO
Isoform 4 (identifier: O96028-4) [UniParc]FASTAAdd to basket
Also known as: RE-IIBP, IL-5 promoter REII-region-binding protein

The sequence of this isoform differs from the canonical sequence as follows:
     1-781: Missing.

Show »
Length:584
Mass (Da):66,387
Checksum:iDEA3DCB455993E56
GO
Isoform 5 (identifier: O96028-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     629-629: S → K
     630-1365: Missing.

Show »
Length:629
Mass (Da):69,398
Checksum:iEC79BB4E13F1FA93
GO
Isoform 6 (identifier: O96028-6) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     472-484: VAEHPDASGEEIE → STKLCFMLASFRI
     485-1365: Missing.

Note: No experimental confirmation available.
Show »
Length:484
Mass (Da):53,484
Checksum:i80778F7E2CFB5C35
GO
Isoform 7 (identifier: O96028-7) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     255-273: QKKSARQYHVQFFGDAPER → IFKSKKFEHLKTSQIVLKD
     274-1365: Missing.

Show »
Length:273
Mass (Da):30,199
Checksum:iB8091D5246B40A60
GO

Computationally mapped potential isoform sequencesi

There are 5 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
H0Y9L4H0Y9L4_HUMAN
Histone-lysine N-methyltransferase ...
NSD2
163Annotation score:
D6R9V2D6R9V2_HUMAN
Histone-lysine N-methyltransferase ...
NSD2
392Annotation score:
D6RIS1D6RIS1_HUMAN
Histone-lysine N-methyltransferase ...
NSD2
199Annotation score:
H0Y9U6H0Y9U6_HUMAN
Histone-lysine N-methyltransferase ...
NSD2
284Annotation score:
D6RFE7D6RFE7_HUMAN
Histone-lysine N-methyltransferase ...
NSD2
37Annotation score:

Sequence cautioni

The sequence BAA83042 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti210T → A in AAU09264 (PubMed:15677557).Curated1
Isoform 2 (identifier: O96028-2)
Sequence conflicti26M → V in BAA83042 (PubMed:10470851).Curated1
Sequence conflicti26M → V in AAI52413 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0214131 – 781Missing in isoform 4. 2 PublicationsAdd BLAST781
Alternative sequenceiVSP_0214141 – 652Missing in isoform 2. 2 PublicationsAdd BLAST652
Alternative sequenceiVSP_021415255 – 273QKKSA…DAPER → IFKSKKFEHLKTSQIVLKD in isoform 7. 1 PublicationAdd BLAST19
Alternative sequenceiVSP_021416274 – 1365Missing in isoform 7. 1 PublicationAdd BLAST1092
Alternative sequenceiVSP_021417472 – 484VAEHP…GEEIE → STKLCFMLASFRI in isoform 6. 1 PublicationAdd BLAST13
Alternative sequenceiVSP_021418485 – 1365Missing in isoform 6. 1 PublicationAdd BLAST881
Alternative sequenceiVSP_021419628 – 647VSDSP…SADET → LLWEPTPVKLDLNPAALYCT in isoform 3. 4 PublicationsAdd BLAST20
Alternative sequenceiVSP_021420629S → K in isoform 5. 1 Publication1
Alternative sequenceiVSP_021421630 – 1365Missing in isoform 5. 1 PublicationAdd BLAST736
Alternative sequenceiVSP_021422648 – 1365Missing in isoform 3. 4 PublicationsAdd BLAST718
Alternative sequenceiVSP_021423653 – 712VSSKK…SECAS → MAGSFCWRMLGLVSKVGNRA RCFSSMAASEEELLDFSGSE LQFNSCSLHLSLHPFFNFLL in isoform 2. 2 PublicationsAdd BLAST60

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF071593 mRNA Translation: AAC24150.1
AF071594 mRNA Translation: AAC24151.1
AF083386 mRNA Translation: AAD19343.1
AF083387 mRNA Translation: AAD21770.1
AF083388 mRNA Translation: AAD21771.1
AF083389 mRNA Translation: AAD19344.1
AF083390 mRNA Translation: AAD19345.1
AF083391 mRNA Translation: AAD19346.1
AF178206
, AF178199, AF178198, AF178202, AF178204, AF178205, AF178203, AF178201, AF178200 Genomic DNA Translation: AAF23369.1
AF178219
, AF178198, AF178199, AF178200, AF178202, AF178204, AF178207, AF178216, AF178215, AF178214, AF178213, AF178212, AF178211, AF178210, AF178209, AF178208, AF178218, AF178217, AF178205, AF178203, AF178201 Genomic DNA Translation: AAF23370.1
AF330040 mRNA Translation: AAK00344.1
AY694128 mRNA Translation: AAU09264.1
AJ007042 mRNA Translation: CAB45386.1
AB029013 mRNA Translation: BAA83042.2 Different initiation.
AK289697 mRNA Translation: BAF82386.1
AC105448 Genomic DNA No translation available.
AL132868 Genomic DNA No translation available.
CH471131 Genomic DNA Translation: EAW82548.1
CH471131 Genomic DNA Translation: EAW82552.1
CH471131 Genomic DNA Translation: EAW82557.1
CH471131 Genomic DNA Translation: EAW82553.1
CH471131 Genomic DNA Translation: EAW82556.1
BC052254 mRNA Translation: AAH52254.1
BC070176 mRNA Translation: AAH70176.1
BC094825 mRNA Translation: AAH94825.2
BC141815 mRNA Translation: AAI41816.1
BC152412 mRNA Translation: AAI52413.1
CCDSiCCDS3356.1 [O96028-3]
CCDS33940.1 [O96028-1]
CCDS46999.1 [O96028-5]
RefSeqiNP_001035889.1, NM_001042424.2 [O96028-1]
NP_015627.1, NM_007331.1 [O96028-5]
NP_579877.1, NM_133330.2 [O96028-1]
NP_579878.1, NM_133331.2 [O96028-1]
NP_579889.1, NM_133334.2 [O96028-3]
NP_579890.1, NM_133335.3 [O96028-1]
XP_005248058.1, XM_005248001.3 [O96028-1]
XP_005248062.1, XM_005248005.2 [O96028-3]
XP_006713977.1, XM_006713914.3 [O96028-3]
XP_011511859.1, XM_011513557.2 [O96028-1]
XP_011511862.1, XM_011513560.2 [O96028-4]
XP_016864076.1, XM_017008587.1 [O96028-4]
XP_016864077.1, XM_017008588.1 [O96028-4]
UniGeneiHs.113876

Genome annotation databases

EnsembliENST00000312087; ENSP00000308780; ENSG00000109685 [O96028-3]
ENST00000353275; ENSP00000329167; ENSG00000109685 [O96028-3]
ENST00000382888; ENSP00000372344; ENSG00000109685 [O96028-2]
ENST00000382891; ENSP00000372347; ENSG00000109685 [O96028-1]
ENST00000382892; ENSP00000372348; ENSG00000109685 [O96028-1]
ENST00000382895; ENSP00000372351; ENSG00000109685 [O96028-1]
ENST00000398261; ENSP00000381311; ENSG00000109685 [O96028-3]
ENST00000420906; ENSP00000399251; ENSG00000109685 [O96028-5]
ENST00000436793; ENSP00000416725; ENSG00000109685 [O96028-7]
ENST00000503128; ENSP00000425761; ENSG00000109685 [O96028-3]
ENST00000508803; ENSP00000423972; ENSG00000109685 [O96028-1]
ENST00000512700; ENSP00000427516; ENSG00000109685 [O96028-7]
ENST00000514045; ENSP00000421681; ENSG00000109685 [O96028-5]
GeneIDi7468
KEGGihsa:7468
UCSCiuc003gdy.2 human [O96028-1]

Keywords - Coding sequence diversityi

Alternative splicing, Chromosomal rearrangement

Similar proteinsi

Cross-referencesi

Web resourcesi

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF071593 mRNA Translation: AAC24150.1
AF071594 mRNA Translation: AAC24151.1
AF083386 mRNA Translation: AAD19343.1
AF083387 mRNA Translation: AAD21770.1
AF083388 mRNA Translation: AAD21771.1
AF083389 mRNA Translation: AAD19344.1
AF083390 mRNA Translation: AAD19345.1
AF083391 mRNA Translation: AAD19346.1
AF178206
, AF178199, AF178198, AF178202, AF178204, AF178205, AF178203, AF178201, AF178200 Genomic DNA Translation: AAF23369.1
AF178219
, AF178198, AF178199, AF178200, AF178202, AF178204, AF178207, AF178216, AF178215, AF178214, AF178213, AF178212, AF178211, AF178210, AF178209, AF178208, AF178218, AF178217, AF178205, AF178203, AF178201 Genomic DNA Translation: AAF23370.1
AF330040 mRNA Translation: AAK00344.1
AY694128 mRNA Translation: AAU09264.1
AJ007042 mRNA Translation: CAB45386.1
AB029013 mRNA Translation: BAA83042.2 Different initiation.
AK289697 mRNA Translation: BAF82386.1
AC105448 Genomic DNA No translation available.
AL132868 Genomic DNA No translation available.
CH471131 Genomic DNA Translation: EAW82548.1
CH471131 Genomic DNA Translation: EAW82552.1
CH471131 Genomic DNA Translation: EAW82557.1
CH471131 Genomic DNA Translation: EAW82553.1
CH471131 Genomic DNA Translation: EAW82556.1
BC052254 mRNA Translation: AAH52254.1
BC070176 mRNA Translation: AAH70176.1
BC094825 mRNA Translation: AAH94825.2
BC141815 mRNA Translation: AAI41816.1
BC152412 mRNA Translation: AAI52413.1
CCDSiCCDS3356.1 [O96028-3]
CCDS33940.1 [O96028-1]
CCDS46999.1 [O96028-5]
RefSeqiNP_001035889.1, NM_001042424.2 [O96028-1]
NP_015627.1, NM_007331.1 [O96028-5]
NP_579877.1, NM_133330.2 [O96028-1]
NP_579878.1, NM_133331.2 [O96028-1]
NP_579889.1, NM_133334.2 [O96028-3]
NP_579890.1, NM_133335.3 [O96028-1]
XP_005248058.1, XM_005248001.3 [O96028-1]
XP_005248062.1, XM_005248005.2 [O96028-3]
XP_006713977.1, XM_006713914.3 [O96028-3]
XP_011511859.1, XM_011513557.2 [O96028-1]
XP_011511862.1, XM_011513560.2 [O96028-4]
XP_016864076.1, XM_017008587.1 [O96028-4]
XP_016864077.1, XM_017008588.1 [O96028-4]
UniGeneiHs.113876

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5LSUX-ray2.14A/B973-1203[»]
5VC8X-ray1.80A/B211-350[»]
ProteinModelPortaliO96028
SMRiO96028
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi113306, 72 interactors
DIPiDIP-57224N
IntActiO96028, 6 interactors
MINTiO96028
STRINGi9606.ENSP00000372347

Chemistry databases

BindingDBiO96028
ChEMBLiCHEMBL3108645

PTM databases

iPTMnetiO96028
PhosphoSitePlusiO96028

Polymorphism and mutation databases

BioMutaiWHSC1

Proteomic databases

EPDiO96028
MaxQBiO96028
PaxDbiO96028
PeptideAtlasiO96028
PRIDEiO96028
ProteomicsDBi51216
51217 [O96028-2]
51218 [O96028-3]
51219 [O96028-4]
51220 [O96028-5]
51221 [O96028-6]
51222 [O96028-7]

Protocols and materials databases

DNASUi7468
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000312087; ENSP00000308780; ENSG00000109685 [O96028-3]
ENST00000353275; ENSP00000329167; ENSG00000109685 [O96028-3]
ENST00000382888; ENSP00000372344; ENSG00000109685 [O96028-2]
ENST00000382891; ENSP00000372347; ENSG00000109685 [O96028-1]
ENST00000382892; ENSP00000372348; ENSG00000109685 [O96028-1]
ENST00000382895; ENSP00000372351; ENSG00000109685 [O96028-1]
ENST00000398261; ENSP00000381311; ENSG00000109685 [O96028-3]
ENST00000420906; ENSP00000399251; ENSG00000109685 [O96028-5]
ENST00000436793; ENSP00000416725; ENSG00000109685 [O96028-7]
ENST00000503128; ENSP00000425761; ENSG00000109685 [O96028-3]
ENST00000508803; ENSP00000423972; ENSG00000109685 [O96028-1]
ENST00000512700; ENSP00000427516; ENSG00000109685 [O96028-7]
ENST00000514045; ENSP00000421681; ENSG00000109685 [O96028-5]
GeneIDi7468
KEGGihsa:7468
UCSCiuc003gdy.2 human [O96028-1]

Organism-specific databases

CTDi7468
DisGeNETi7468
EuPathDBiHostDB:ENSG00000109685.17
GeneCardsiNSD2
GeneReviewsiWHSC1
HGNCiHGNC:12766 NSD2
HPAiCAB068246
CAB068247
HPA015801
MalaCardsiNSD2
MIMi602952 gene
neXtProtiNX_O96028
OpenTargetsiENSG00000109685
Orphaneti280 Wolf-Hirschhorn syndrome
PharmGKBiPA37369
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1081 Eukaryota
COG2940 LUCA
GeneTreeiENSGT00780000121845
HOGENOMiHOG000230892
HOVERGENiHBG053345
InParanoidiO96028
KOiK11424
OMAiCMARIKY
OrthoDBiEOG091G00XD
PhylomeDBiO96028
TreeFamiTF329088

Enzyme and pathway databases

BRENDAi2.1.1.43 2681
ReactomeiR-HSA-3214841 PKMTs methylate histone lysines
R-HSA-5693565 Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-5693571 Nonhomologous End-Joining (NHEJ)
R-HSA-5693607 Processing of DNA double-strand break ends
R-HSA-69473 G2/M DNA damage checkpoint
SIGNORiO96028

Miscellaneous databases

ChiTaRSiWHSC1 human
GeneWikiiWHSC1
GenomeRNAii7468
PROiPR:O96028
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000109685 Expressed in 223 organ(s), highest expression level in testis
ExpressionAtlasiO96028 baseline and differential
GenevisibleiO96028 HS

Family and domain databases

Gene3Di1.10.30.10, 1 hit
3.30.40.10, 4 hits
InterProiView protein in InterPro
IPR006560 AWS_dom
IPR009071 HMG_box_dom
IPR036910 HMG_box_dom_sf
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
PfamiView protein in Pfam
PF00505 HMG_box, 1 hit
PF00855 PWWP, 2 hits
PF00856 SET, 1 hit
SMARTiView protein in SMART
SM00570 AWS, 1 hit
SM00398 HMG, 1 hit
SM00249 PHD, 4 hits
SM00508 PostSET, 1 hit
SM00293 PWWP, 2 hits
SM00184 RING, 2 hits
SM00317 SET, 1 hit
SUPFAMiSSF47095 SSF47095, 1 hit
SSF57903 SSF57903, 3 hits
PROSITEiView protein in PROSITE
PS51215 AWS, 1 hit
PS50118 HMG_BOX_2, 1 hit
PS50868 POST_SET, 1 hit
PS50812 PWWP, 2 hits
PS50280 SET, 1 hit
PS01359 ZF_PHD_1, 2 hits
PS50016 ZF_PHD_2, 2 hits
ProtoNetiSearch...

Entry informationi

Entry nameiNSD2_HUMAN
AccessioniPrimary (citable) accession number: O96028
Secondary accession number(s): A2A2T2
, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: May 1, 1999
Last modified: September 12, 2018
This is version 170 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

3D-structure, Complete proteome, Reference proteome
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Main funding by: National Institutes of Health

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