Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Histone-lysine N-methyltransferase NSD2

Gene

Nsd2

Organism
Mus musculus (Mouse)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

Histone methyltransferase with histone H3 'Lys-27' (H3K27me) methyltransferase activity.1 Publication

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

  • chromatin binding Source: MGI
  • histone-lysine N-methyltransferase activity Source: MGI
  • metal ion binding Source: UniProtKB-KW
  • sequence-specific DNA binding Source: MGI

GO - Biological processi

  • atrial septum primum morphogenesis Source: MGI
  • atrial septum secundum morphogenesis Source: MGI
  • bone development Source: MGI
  • histone H3-K36 methylation Source: MGI
  • histone H4-K20 methylation Source: MGI
  • membranous septum morphogenesis Source: MGI
  • negative regulation of transcription by RNA polymerase II Source: MGI
  • positive regulation of isotype switching to IgA isotypes Source: MGI
  • regulation of double-strand break repair via nonhomologous end joining Source: MGI
  • regulation of establishment of protein localization Source: MGI
  • regulation of transcription, DNA-templated Source: MGI
  • transcription, DNA-templated Source: UniProtKB-KW

Keywordsi

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

Enzyme and pathway databases

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

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
Wolf-Hirschhorn syndrome candidate 1 protein homolog
Gene namesi
Name:Nsd2
Synonyms:Kiaa1090, Whsc1
OrganismiMus musculus (Mouse)
Taxonomic identifieri10090 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaMyomorphaMuroideaMuridaeMurinaeMusMus
Proteomesi
  • UP000000589 Componenti: Chromosome 5

Organism-specific databases

MGIiMGI:1276574 Nsd2

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, Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi1138R → A: No methyltransferase activity. 1 Publication1
Mutagenesisi1144C → A: No methyltransferase activity. 1 Publication1

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002595201 – 1365Histone-lysine N-methyltransferase NSD2Add BLAST1365

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei110PhosphothreonineCombined sources1
Modified residuei114PhosphothreonineBy similarity1
Modified residuei121PhosphoserineCombined sources1
Modified residuei172PhosphoserineBy similarity1
Modified residuei376PhosphoserineBy similarity1
Modified residuei422PhosphothreonineBy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

PaxDbiQ8BVE8
PeptideAtlasiQ8BVE8
PRIDEiQ8BVE8

PTM databases

iPTMnetiQ8BVE8
PhosphoSitePlusiQ8BVE8

Expressioni

Tissue specificityi

Expressed preferentially in rapidly growing embryonic tissues.1 Publication

Developmental stagei

Ubiquitously expressed in early development.1 Publication

Gene expression databases

BgeeiENSMUSG00000057406
CleanExiMM_WHSC1
ExpressionAtlasiQ8BVE8 baseline and differential
GenevisibleiQ8BVE8 MM

Interactioni

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi223605, 13 interactors
DIPiDIP-60452N
IntActiQ8BVE8, 14 interactors
MINTiQ8BVE8
STRINGi10090.ENSMUSP00000067205

Structurei

3D structure databases

ProteinModelPortaliQ8BVE8
SMRiQ8BVE8
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

Belongs to the class V-like SAM-binding methyltransferase superfamily. Histone-lysine methyltransferase family. SET2 subfamily.PROSITE-ProRule annotation

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
HOGENOMiHOG000230893
HOVERGENiHBG079979
InParanoidiQ8BVE8
KOiK11424
OMAiCMARIKY
OrthoDBiEOG091G00XD
PhylomeDBiQ8BVE8
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
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 (4)i

Sequence statusi: Complete.

This entry describes 4 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q8BVE8-1) [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
MEFSIRKSPL SVQKVVKCMK MKQTPEILGS ANGKTQNCEV NHECSVFLSK
60 70 80 90 100
AQLSNSLQEG VMQKFNGHDA LPFLPAEKLK DLTSCVFNGE PGAHDTKLCF
110 120 130 140 150
EAQEVKGIGT PPNTTPIKNG SPEIKLKITK TYMNGKPLFE SSICGDGAAD
160 170 180 190 200
VSQSEENEQK SDNKTRRNRK RSIKYDSLLE QGLVEAALVS KISSPADKKI
210 220 230 240 250
PVKKESCPNT GRDRDLLLKY NVGDLVWSKV SGYPWWPCMV SADPLLHNHT
260 270 280 290 300
KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEEQF EKLCQESAKQ
310 320 330 340 350
APTKAEKIKL LKPISGRLRA QWEMGIVQAE EAASMSIEER KAKFTFLYVG
360 370 380 390 400
DQLHLNPQVA KEAGIVTEPL GEMVDSSGAS EEAAVDPGSV REEDIPTKRR
410 420 430 440 450
RRTKRSSSAE NQEGDPGTDK STPPKMAEAE PKRGVGSPAG RKKSTGSAPR
460 470 480 490 500
SRKGDSAAQF LVFCQKHRDE VVAEHPDASG EEIEELLGSQ WSMLNEKQKA
510 520 530 540 550
RYNTKFSLMI SAQSEEDSGN GNGKKRSHTK RADDPAEDVD VEDAPRKRLR
560 570 580 590 600
ADKHSLRKRE TITDKTARTS SYKAIEAASS LKSQAATKNL SDACKPLKKR
610 620 630 640 650
NRASATASSA LGFNKSSSPS ASLTEHEVSD SPGDEPSESP YESADETQTE
660 670 680 690 700
ASVSSKKSER GMAAKKEYVC QLCEKTGSLL LCEGPCCGAF HLACLGLSRR
710 720 730 740 750
PEGRFTCTEC ASGIHSCFVC KESKMEVKRC VVNQCGKFYH EACVKKYPLT
760 770 780 790 800
VFESRGFRCP LHSCMSCHAS NPSNPRPSKG KMMRCVRCPV AYHGGDACLA
810 820 830 840 850
AGCSVIASNS IICTGHFTAR KGKRHHTHVN VSWCFVCSKG GSLLCCEACP
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 ALQEAEARFN EVKLQREARE TQESERKPPP YKHIKVNKPY
1010 1020 1030 1040 1050
GKVQIYTADI SEIPKCNCKP TDENPCGSDS ECLNRMLMFE CHPQVCPAGE
1060 1070 1080 1090 1100
YCQNQCFTKR QYPETKIIKT DGKGWGLVAK RDIRKGEFVN EYVGELIDEE
1110 1120 1130 1140 1150
ECMARIKYAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM NHSCQPNCET
1160 1170 1180 1190 1200
LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG
1210 1220 1230 1240 1250
FLGDRPKTSA SLSSEEKGKK AKKKTRRRRA KGEGKRQSED ECFRCGDGGQ
1260 1270 1280 1290 1300
LVLCDRKFCT KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP
1310 1320 1330 1340 1350
NSFCKEHQDG TAFRSTQDGQ SYCCEHDLRA DSSSSTKTEK PFPESLKSKG
1360
KRKKRRCWRR VTDGK
Length:1,365
Mass (Da):152,253
Last modified:October 31, 2006 - v2
Checksum:iD8DC3F687D3EA2C2
GO
Isoform 2 (identifier: Q8BVE8-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     558-558: K → KQ

Show »
Length:1,366
Mass (Da):152,381
Checksum:i28858A53E6156DEF
GO
Isoform 3 (identifier: Q8BVE8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-519: Missing.
     520-522: NGN → MGM
     558-558: K → KQ

Note: No experimental confirmation available.
Show »
Length:847
Mass (Da):95,042
Checksum:iEE0EF9742565F18D
GO
Isoform RE-IIBP (identifier: Q8BVE8-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-661: Missing.

Show »
Length:704
Mass (Da):79,633
Checksum:iDFB1AC7E5D1E7E4F
GO

Sequence cautioni

The sequence ACE75882 differs from that shown. Incorrectly indicated as originating from human.Curated
The sequence BAC37342 differs from that shown. Reason: Frameshift at positions 649 and 759.Curated
The sequence BAC98097 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti757F → L in BAC37342 (PubMed:16141072).Curated1
Sequence conflicti1019K → T in ACE75882 (PubMed:18172012).Curated1
Sequence conflicti1345S → L in AAH53454 (PubMed:15489334).Curated1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0444201 – 661Missing in isoform RE-IIBP. 1 PublicationAdd BLAST661
Alternative sequenceiVSP_0214241 – 519Missing in isoform 3. 1 PublicationAdd BLAST519
Alternative sequenceiVSP_021425520 – 522NGN → MGM in isoform 3. 1 Publication3
Alternative sequenceiVSP_021426558K → KQ in isoform 2 and isoform 3. 2 Publications1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
EU733655 mRNA Translation: ACE75882.1 Sequence problems.
AK129287 mRNA Translation: BAC98097.1 Different initiation.
AC163329 Genomic DNA No translation available.
AK078622 mRNA Translation: BAC37342.1 Frameshift.
BC046473 mRNA Translation: AAH46473.1
BC053454 mRNA Translation: AAH53454.1
CCDSiCCDS51467.1 [Q8BVE8-2]
CCDS51468.1 [Q8BVE8-1]
RefSeqiNP_001074571.2, NM_001081102.2 [Q8BVE8-2]
NP_780440.2, NM_175231.2 [Q8BVE8-1]
XP_006503721.1, XM_006503658.3 [Q8BVE8-2]
XP_006503722.1, XM_006503659.3 [Q8BVE8-2]
XP_006503723.1, XM_006503660.3 [Q8BVE8-1]
XP_017176079.1, XM_017320590.1 [Q8BVE8-2]
UniGeneiMm.19892
Mm.332320
Mm.491382

Genome annotation databases

EnsembliENSMUST00000058096; ENSMUSP00000058940; ENSMUSG00000057406 [Q8BVE8-1]
ENSMUST00000066854; ENSMUSP00000067205; ENSMUSG00000057406 [Q8BVE8-2]
ENSMUST00000075812; ENSMUSP00000075210; ENSMUSG00000057406 [Q8BVE8-2]
GeneIDi107823
KEGGimmu:107823
UCSCiuc008xbm.2 mouse [Q8BVE8-1]
uc012duw.1 mouse [Q8BVE8-2]

Keywords - Coding sequence diversityi

Alternative splicing

Similar proteinsi

Entry informationi

Entry nameiNSD2_MOUSE
AccessioniPrimary (citable) accession number: Q8BVE8
Secondary accession number(s): B3VCH6
, Q6ZPY1, Q7TSF5, Q811F0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: March 28, 2018
This is version 138 of the entry and version 2 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome
UniProt is an ELIXIR core data resource
Main funding by: National Institutes of Health