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Q8BVE8 (NSD2_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 106. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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
Short name=NSD2
Wolf-Hirschhorn syndrome candidate 1 protein homolog
Short name=WHSC1
Gene names
Name:Whsc1
Synonyms:Kiaa1090, Nsd2
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length1365 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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

Catalytic activity

S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone]. Ref.1

Subcellular location

Nucleus By similarity. Chromosome By similarity.

Tissue specificity

Expressed preferentially in rapidly growing embryonic tissues. Ref.6

Developmental stage

Ubiquitously expressed in early development. Ref.6

Sequence similarities

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

Contains 1 AWS domain.

Contains 1 HMG box DNA-binding domain.

Contains 4 PHD-type zinc fingers.

Contains 1 post-SET domain.

Contains 2 PWWP domains.

Contains 1 SET domain.

Sequence caution

The sequence ACE75882.1 differs from that shown. Reason: Incorrectly indicated as originating from human.

The sequence BAC37342.1 differs from that shown. Reason: Frameshift at positions 649 and 759.

The sequence BAC98097.1 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
   Biological processTranscription
Transcription regulation
   Cellular componentChromosome
Nucleus
   Coding sequence diversityAlternative splicing
   DomainRepeat
Zinc-finger
   LigandDNA-binding
Metal-binding
S-adenosyl-L-methionine
Zinc
   Molecular functionChromatin regulator
Methyltransferase
Transferase
   PTMPhosphoprotein
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_processatrial septum primum morphogenesis

Inferred from mutant phenotype PubMed 19483677. Source: MGI

atrial septum secundum morphogenesis

Inferred from mutant phenotype PubMed 19483677. Source: MGI

bone development

Inferred from mutant phenotype PubMed 19483677. Source: MGI

chromatin modification

Inferred from direct assay PubMed 19483677. Source: MGI

histone lysine methylation

Inferred from direct assay PubMed 19483677. Source: GOC

membranous septum morphogenesis

Inferred from mutant phenotype PubMed 19483677. Source: MGI

negative regulation of transcription from RNA polymerase II promoter

Inferred from genetic interaction PubMed 19483677. Source: MGI

transcription, DNA-templated

Inferred from electronic annotation. Source: UniProtKB-KW

   Cellular_componentchromosome

Inferred from electronic annotation. Source: UniProtKB-SubCell

nuclear membrane

Inferred from electronic annotation. Source: Ensembl

nucleolus

Inferred from electronic annotation. Source: Ensembl

nucleus

Inferred from direct assay PubMed 19483677. Source: MGI

   Molecular_functionDNA binding

Inferred from electronic annotation. Source: UniProtKB-KW

chromatin binding

Inferred from direct assay PubMed 19483677. Source: MGI

histone-lysine N-methyltransferase activity

Inferred from direct assay PubMed 19483677. Source: MGI

zinc ion binding

Inferred from electronic annotation. Source: InterPro

Complete GO annotation...

Alternative products

This entry describes 4 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8BVE8-1)

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.
Isoform 2 (identifier: Q8BVE8-2)

The sequence of this isoform differs from the canonical sequence as follows:
     558-558: K → KQ
Isoform 3 (identifier: Q8BVE8-3)

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.
Isoform RE-IIBP (identifier: Q8BVE8-4)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 13651365Histone-lysine N-methyltransferase NSD2
PRO_0000259520

Regions

Domain222 – 28665PWWP 1
Domain880 – 94263PWWP 2
Domain1011 – 106151AWS
Domain1063 – 1180118SET
Domain1187 – 120317Post-SET
DNA binding453 – 52169HMG box
Zinc finger667 – 71347PHD-type 1
Zinc finger714 – 77057PHD-type 2
Zinc finger831 – 87545PHD-type 3
Zinc finger1239 – 128648PHD-type 4; atypical

Amino acid modifications

Modified residue1101Phosphothreonine By similarity
Modified residue1141Phosphothreonine By similarity
Modified residue1211Phosphoserine By similarity
Modified residue3761Phosphoserine By similarity

Natural variations

Alternative sequence1 – 661661Missing in isoform RE-IIBP.
VSP_044420
Alternative sequence1 – 519519Missing in isoform 3.
VSP_021424
Alternative sequence520 – 5223NGN → MGM in isoform 3.
VSP_021425
Alternative sequence5581K → KQ in isoform 2 and isoform 3.
VSP_021426

Experimental info

Mutagenesis11381R → A: No methyltransferase activity. Ref.1
Mutagenesis11441C → A: No methyltransferase activity. Ref.1
Sequence conflict7571F → L in BAC37342. Ref.4
Sequence conflict10191K → T in ACE75882. Ref.1
Sequence conflict13451S → L in AAH53454. Ref.5

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified October 31, 2006. Version 2.
Checksum: D8DC3F687D3EA2C2

FASTA1,365152,253
        10         20         30         40         50         60 
MEFSIRKSPL SVQKVVKCMK MKQTPEILGS ANGKTQNCEV NHECSVFLSK AQLSNSLQEG 

        70         80         90        100        110        120 
VMQKFNGHDA LPFLPAEKLK DLTSCVFNGE PGAHDTKLCF EAQEVKGIGT PPNTTPIKNG 

       130        140        150        160        170        180 
SPEIKLKITK TYMNGKPLFE SSICGDGAAD VSQSEENEQK SDNKTRRNRK RSIKYDSLLE 

       190        200        210        220        230        240 
QGLVEAALVS KISSPADKKI PVKKESCPNT GRDRDLLLKY NVGDLVWSKV SGYPWWPCMV 

       250        260        270        280        290        300 
SADPLLHNHT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEEQF EKLCQESAKQ 

       310        320        330        340        350        360 
APTKAEKIKL LKPISGRLRA QWEMGIVQAE EAASMSIEER KAKFTFLYVG DQLHLNPQVA 

       370        380        390        400        410        420 
KEAGIVTEPL GEMVDSSGAS EEAAVDPGSV REEDIPTKRR RRTKRSSSAE NQEGDPGTDK 

       430        440        450        460        470        480 
STPPKMAEAE PKRGVGSPAG RKKSTGSAPR SRKGDSAAQF LVFCQKHRDE VVAEHPDASG 

       490        500        510        520        530        540 
EEIEELLGSQ WSMLNEKQKA RYNTKFSLMI SAQSEEDSGN GNGKKRSHTK RADDPAEDVD 

       550        560        570        580        590        600 
VEDAPRKRLR ADKHSLRKRE TITDKTARTS SYKAIEAASS LKSQAATKNL SDACKPLKKR 

       610        620        630        640        650        660 
NRASATASSA LGFNKSSSPS ASLTEHEVSD SPGDEPSESP YESADETQTE ASVSSKKSER 

       670        680        690        700        710        720 
GMAAKKEYVC QLCEKTGSLL LCEGPCCGAF HLACLGLSRR PEGRFTCTEC ASGIHSCFVC 

       730        740        750        760        770        780 
KESKMEVKRC VVNQCGKFYH EACVKKYPLT VFESRGFRCP LHSCMSCHAS NPSNPRPSKG 

       790        800        810        820        830        840 
KMMRCVRCPV AYHGGDACLA AGCSVIASNS IICTGHFTAR KGKRHHTHVN VSWCFVCSKG 

       850        860        870        880        890        900 
GSLLCCEACP AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH 

       910        920        930        940        950        960 
PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG VRGIGRVFKN 

       970        980        990       1000       1010       1020 
ALQEAEARFN EVKLQREARE TQESERKPPP YKHIKVNKPY GKVQIYTADI SEIPKCNCKP 

      1030       1040       1050       1060       1070       1080 
TDENPCGSDS ECLNRMLMFE CHPQVCPAGE YCQNQCFTKR QYPETKIIKT DGKGWGLVAK 

      1090       1100       1110       1120       1130       1140 
RDIRKGEFVN EYVGELIDEE ECMARIKYAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM 

      1150       1160       1170       1180       1190       1200 
NHSCQPNCET LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG 

      1210       1220       1230       1240       1250       1260 
FLGDRPKTSA SLSSEEKGKK AKKKTRRRRA KGEGKRQSED ECFRCGDGGQ LVLCDRKFCT 

      1270       1280       1290       1300       1310       1320 
KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP NSFCKEHQDG TAFRSTQDGQ 

      1330       1340       1350       1360 
SYCCEHDLRA DSSSSTKTEK PFPESLKSKG KRKKRRCWRR VTDGK 

« Hide

Isoform 2 [UniParc].

Checksum: 28858A53E6156DEF
Show »

FASTA1,366152,381
Isoform 3 [UniParc].

Checksum: EE0EF9742565F18D
Show »

FASTA84795,042
Isoform RE-IIBP [UniParc].

Checksum: DFB1AC7E5D1E7E4F
Show »

FASTA70479,633

References

« Hide 'large scale' references
[1]"Multiple-myeloma-related WHSC1/MMSET isoform RE-IIBP is a histone methyltransferase with transcriptional repression activity."
Kim J.Y., Kee H.J., Choe N.W., Kim S.M., Eom G.H., Baek H.J., Kook H., Kook H., Seo S.B.
Mol. Cell. Biol. 28:2023-2034(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM RE-IIBP), FUNCTION, CATALYTIC ACTIVITY, MUTAGENESIS OF ARG-1138 AND CYS-1144.
[2]"Prediction of the coding sequences of mouse homologues of KIAA gene: III. The complete nucleotide sequences of 500 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries."
Okazaki N., Kikuno R., Ohara R., Inamoto S., Koseki H., Hiraoka S., Saga Y., Nagase T., Ohara O., Koga H.
DNA Res. 10:167-180(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Embryonic tail.
[3]"Lineage-specific biology revealed by a finished genome assembly of the mouse."
Church D.M., Goodstadt L., Hillier L.W., Zody M.C., Goldstein S., She X., Bult C.J., Agarwala R., Cherry J.L., DiCuccio M., Hlavina W., Kapustin Y., Meric P., Maglott D., Birtle Z., Marques A.C., Graves T., Zhou S. expand/collapse author list , Teague B., Potamousis K., Churas C., Place M., Herschleb J., Runnheim R., Forrest D., Amos-Landgraf J., Schwartz D.C., Cheng Z., Lindblad-Toh K., Eichler E.E., Ponting C.P.
PLoS Biol. 7:E1000112-E1000112(2009) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Strain: C57BL/6J.
[4]"The transcriptional landscape of the mammalian genome."
Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J. expand/collapse author list , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 446-1365 (ISOFORM 1).
Strain: C57BL/6J.
Tissue: Adrenal gland.
[5]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 516-1365 (ISOFORM 2).
Strain: FVB/N.
Tissue: Limb and Mammary tumor.
[6]"WHSC1, a 90 kb SET domain-containing gene, expressed in early development and homologous to a Drosophila dysmorphy gene maps in the Wolf-Hirschhorn syndrome critical region and is fused to IgH in t(4;14) multiple myeloma."
Stec I., Wright T.J., van Ommen G.-J.B., de Boer P.A., van Haeringen A., Moorman A.F.M., Altherr M.R., den Dunnen J.T.
Hum. Mol. Genet. 7:1071-1082(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, DEVELOPMENTAL STAGE.
[7]Erratum
Stec I., Wright T.J., van Ommen G.-J.B., de Boer P.A., van Haeringen A., Moorman A.F.M., Altherr M.R., den Dunnen J.T.
Hum. Mol. Genet. 7:1527-1527(1998)
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS51467.1. [Q8BVE8-2]
CCDS51468.1. [Q8BVE8-1]
RefSeqNP_001074571.2. NM_001081102.2. [Q8BVE8-2]
NP_780440.2. NM_175231.2. [Q8BVE8-1]
XP_006503721.1. XM_006503658.1. [Q8BVE8-2]
XP_006503722.1. XM_006503659.1. [Q8BVE8-2]
XP_006503723.1. XM_006503660.1. [Q8BVE8-1]
UniGeneMm.19892.
Mm.332320.
Mm.491382.

3D structure databases

ProteinModelPortalQ8BVE8.
SMRQ8BVE8. Positions 217-285, 667-712, 716-763, 833-873, 877-973, 976-1203, 1239-1327.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid223605. 13 interactions.
DIPDIP-60452N.
IntActQ8BVE8. 3 interactions.

PTM databases

PhosphoSiteQ8BVE8.

Proteomic databases

MaxQBQ8BVE8.
PaxDbQ8BVE8.
PRIDEQ8BVE8.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000058096; ENSMUSP00000058940; ENSMUSG00000057406. [Q8BVE8-1]
ENSMUST00000066854; ENSMUSP00000067205; ENSMUSG00000057406. [Q8BVE8-2]
ENSMUST00000075812; ENSMUSP00000075210; ENSMUSG00000057406. [Q8BVE8-2]
GeneID107823.
KEGGmmu:107823.
UCSCuc008xbm.2. mouse. [Q8BVE8-1]
uc012duw.1. mouse. [Q8BVE8-2]

Organism-specific databases

CTD7468.
MGIMGI:1276574. Whsc1.
RougeSearch...

Phylogenomic databases

eggNOGCOG2940.
GeneTreeENSGT00740000114921.
HOGENOMHOG000230893.
HOVERGENHBG079979.
KOK11424.
OMAPSKGKMM.
OrthoDBEOG7Z69BG.
PhylomeDBQ8BVE8.
TreeFamTF329088.

Gene expression databases

ArrayExpressQ8BVE8.
BgeeQ8BVE8.
CleanExMM_WHSC1.
GenevestigatorQ8BVE8.

Family and domain databases

Gene3D1.10.30.10. 1 hit.
3.30.40.10. 3 hits.
InterProIPR006560. AWS.
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.
[Graphical view]
PfamPF00505. HMG_box. 1 hit.
PF00628. PHD. 1 hit.
PF00855. PWWP. 2 hits.
PF00856. SET. 1 hit.
[Graphical view]
SMARTSM00570. 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.
[Graphical view]
SUPFAMSSF47095. SSF47095. 1 hit.
SSF57903. SSF57903. 3 hits.
PROSITEPS51215. 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.
[Graphical view]
ProtoNetSearch...

Other

ChiTaRSWHSC1. human.
NextBio35470773.
PROQ8BVE8.
SOURCESearch...

Entry information

Entry nameNSD2_MOUSE
AccessionPrimary (citable) accession number: Q8BVE8
Secondary accession number(s): B3VCH6 expand/collapse secondary AC list , Q6ZPY1, Q7TSF5, Q811F0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 31, 2006
Last sequence update: October 31, 2006
Last modified: July 9, 2014
This is version 106 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot