O96028 (NSD2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
Probable histone-lysine N-methyltransferase NSD2
EC=2.1.1.43

Alternative name(s):
Multiple myeloma SET domain-containing protein
Nuclear SET domain-containing protein 2
Protein trithorax-5
Wolf-Hirschhorn syndrome candidate 1 protein

Gene names

Name:	WHSC1
Synonyms:	KIAA1090, MMSET, NSD2, TRX5

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	1365 AA.
Sequence status	Complete.
Protein existence	Evidence at protein level

General annotation (Comments)

Function	Probable histone methyltransferase By similarity. May act as a transcription regulator that binds DNA and suppresses IL5 transcription. Ref.4 Ref.16
Catalytic activity	S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine + N(6)-methyl-L-lysine-[histone].
Subcellular location	Nucleus. Chromosome Potential Ref.5 Ref.17. Isoform 4: Cytoplasm Ref.5 Ref.17.
Tissue specificity	Widely expressed. Ref.2
Post-translational modification	Phosphorylated upon DNA damage, probably by ATM or ATR. Ref.19 Ref.20 Ref.21 Ref.22 Ref.23 Ref.24
Involvement in disease	Note=A chromosomal aberration involving WHSC1 is a cause of multiple myeloma tumors. Translocation t(4;14)(p16.3;q32.3) with IgH. Note=WHSC1 is located in the Wolf-Hirschhorn syndrome (WHS) critical region. WHS results from by sub-telomeric deletions in the short arm of chromosome 4. WHSC1 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. Ref.18
Sequence similarities	Belongs to the 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 BAA83042.2 differs from that shown. Reason: Erroneous initiation.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Chromosome Cytoplasm Nucleus
Coding sequence diversity	Alternative splicing Chromosomal rearrangement
Disease	Proto-oncogene
Domain	Repeat Zinc-finger
Ligand	DNA-binding Metal-binding Zinc
Molecular function	Chromatin regulator Methyltransferase Transferase
PTM	Acetylation Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	anatomical structure morphogenesis Traceable author statement. Source: ProtInc regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular component	chromosome Inferred from electronic annotation. Source: UniProtKB-SubCell cytoplasm Inferred from electronic annotation. Source: UniProtKB-SubCell nuclear membrane Inferred from direct assay. Source: HPA nucleolus Inferred from direct assay. Source: HPA
Molecular function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW histone-lysine N-methyltransferase activity Inferred from electronic annotation. Source: EC zinc ion binding Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Alternative products

This entry describes 7 isoforms produced by alternative splicing. [Align] [Select]

Isoform 1 (identifier: O96028-1)

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: O96028-2)

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

Note: No experimental confirmation available.

Isoform 3 (identifier: O96028-3)

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

Isoform 4 (identifier: O96028-4)

Also known as: REII-BP; IL-5 promoter REII-region-binding protein;

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

Isoform 5 (identifier: O96028-5)

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

Isoform 6 (identifier: O96028-6)

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

Note: No experimental confirmation available.

Isoform 7 (identifier: O96028-7)

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

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 1365	1365	Probable histone-lysine N-methyltransferase NSD2		PRO_0000259519
Regions
	Domain	222 – 286	65	PWWP 1
	Domain	880 – 942	63	PWWP 2
	Domain	1011 – 1061	51	AWS
	Domain	1062 – 1184	123	SET
	Domain	1187 – 1203	17	Post-SET
	DNA binding	453 – 521	69	HMG box Ref.4
	Zinc finger	667 – 713	47	PHD-type 1
	Zinc finger	714 – 770	57	PHD-type 2
	Zinc finger	831 – 875	45	PHD-type 3
	Zinc finger	1239 – 1286	48	PHD-type 4; atypical
Amino acid modifications
	Modified residue	102	1	Phosphoserine Ref.20
	Modified residue	110	1	Phosphothreonine Ref.22 Ref.23 Ref.24
	Modified residue	114	1	Phosphothreonine Ref.23 Ref.24
	Modified residue	115	1	Phosphothreonine Ref.22 Ref.23
	Modified residue	121	1	Phosphoserine Ref.22 Ref.23 Ref.24
	Modified residue	376	1	Phosphoserine Ref.24
	Modified residue	437	1	Phosphoserine Ref.21
	Modified residue	544	1	Phosphothreonine Ref.19 Ref.21 Ref.22 Ref.23 Ref.24
	Modified residue	779	1	N6-acetyllysine Ref.25
	Modified residue	781	1	N6-acetyllysine Ref.25
Natural variations
	Alternative sequence	1 – 781	781	Missing in isoform 4.		VSP_021413
	Alternative sequence	1 – 652	652	Missing in isoform 2.		VSP_021414
	Alternative sequence	255 – 273	19	QKKSA…DAPER → IFKSKKFEHLKTSQIVLKD in isoform 7.		VSP_021415
	Alternative sequence	274 – 1365	1092	Missing in isoform 7.		VSP_021416
	Alternative sequence	472 – 484	13	VAEHP…GEEIE → STKLCFMLASFRI in isoform 6.		VSP_021417
	Alternative sequence	485 – 1365	881	Missing in isoform 6.		VSP_021418
	Alternative sequence	628 – 647	20	VSDSP…SADET → LLWEPTPVKLDLNPAALYCT in isoform 3.		VSP_021419
	Alternative sequence	629	1	S → K in isoform 5.		VSP_021420
	Alternative sequence	630 – 1365	736	Missing in isoform 5.		VSP_021421
	Alternative sequence	648 – 1365	718	Missing in isoform 3.		VSP_021422
	Alternative sequence	653 – 712	60	VSSKK…SECAS → MAGSFCWRMLGLVSKVGNRA RCFSSVAASEEELLDFSGSE LQFNSCSLHLSLHPFFNFLL in isoform 2.		VSP_021423
Experimental info
	Sequence conflict	210	1	T → A in AAU09264. Ref.5

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified May 1, 1999. Version 1. Checksum: 7B3128E1FA893AAA	FASTA	1,365	152,258
	10 20 30 40 50 60 MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 70 80 90 100 110 120 VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 130 140 150 160 170 180 SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE 190 200 210 220 230 240 QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV 250 260 270 280 290 300 SADPLLHSYT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ 310 320 330 340 350 360 APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG DQLHLNPQVA 370 380 390 400 410 420 KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR RRAKLCSSAE TLESHPDIGK 430 440 450 460 470 480 STPQKTAEAD PRRGVGSPPG RKKTTVSMPR SRKGDAASQF LVFCQKHRDE VVAEHPDASG 490 500 510 520 530 540 EEIEELLRSQ WSLLSEKQRA RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE 550 560 570 580 590 600 AEDTPRKRLR TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR 610 620 630 640 650 660 NRASTAASSA LGFSKSSSPS ASLTENEVSD SPGDEPSESP YESADETQTE VSVSSKKSER 670 680 690 700 710 720 GVTAKKEYVC QLCEKPGSLL LCEGPCCGAF HLACLGLSRR PEGRFTCSEC ASGIHSCFVC 730 740 750 760 770 780 KESKTDVKRC VVTQCGKFYH EACVKKYPLT VFESRGFRCP LHSCVSCHAS NPSNPRPSKG 790 800 810 820 830 840 KMMRCVRCPV AYHSGDACLA AGCSVIASNS IICTAHFTAR KGKRHHAHVN VSWCFVCSKG 850 860 870 880 890 900 GSLLCCESCP AAFHPDCLNI EMPDGSWFCN DCRAGKKLHF QDIIWVKLGN YRWWPAEVCH 910 920 930 940 950 960 PKNVPPNIQK MKHEIGEFPV FFFGSKDYYW THQARVFPYM EGDRGSRYQG VRGIGRVFKN 970 980 990 1000 1010 1020 ALQEAEARFR EIKLQREARE TQESERKPPP YKHIKVNKPY GKVQIYTADI SEIPKCNCKP 1030 1040 1050 1060 1070 1080 TDENPCGFDS ECLNRMLMFE CHPQVCPAGE FCQNQCFTKR QYPETKIIKT DGKGWGLVAK 1090 1100 1110 1120 1130 1140 RDIRKGEFVN EYVGELIDEE ECMARIKHAH ENDITHFYML TIDKDRIIDA GPKGNYSRFM 1150 1160 1170 1180 1190 1200 NHSCQPNCET LKWTVNGDTR VGLFAVCDIP AGTELTFNYN LDCLGNEKTV CRCGASNCSG 1210 1220 1230 1240 1250 1260 FLGDRPKTST TLSSEEKGKK TKKKTRRRRA KGEGKRQSED ECFRCGDGGQ LVLCDRKFCT 1270 1280 1290 1300 1310 1320 KAYHLSCLGL GKRPFGKWEC PWHHCDVCGK PSTSFCHLCP NSFCKEHQDG TAFSCTPDGR 1330 1340 1350 1360 SYCCEHDLGA ASVRSTKTEK PPPEPGKPKG KRRRRRGWRR VTEGK
	Isoform 2 [UniParc]. Checksum: 8E93DDFE0BCD7907	FASTA	713	80,745
	10 20 30 40 50 60 MAGSFCWRML GLVSKVGNRA RCFSSVAASE EELLDFSGSE LQFNSCSLHL SLHPFFNFLL 70 80 90 100 110 120 GIHSCFVCKE SKTDVKRCVV TQCGKFYHEA CVKKYPLTVF ESRGFRCPLH SCVSCHASNP 130 140 150 160 170 180 SNPRPSKGKM MRCVRCPVAY HSGDACLAAG CSVIASNSII CTAHFTARKG KRHHAHVNVS 190 200 210 220 230 240 WCFVCSKGGS LLCCESCPAA FHPDCLNIEM PDGSWFCNDC RAGKKLHFQD IIWVKLGNYR 250 260 270 280 290 300 WWPAEVCHPK NVPPNIQKMK HEIGEFPVFF FGSKDYYWTH QARVFPYMEG DRGSRYQGVR 310 320 330 340 350 360 GIGRVFKNAL QEAEARFREI KLQREARETQ ESERKPPPYK HIKVNKPYGK VQIYTADISE 370 380 390 400 410 420 IPKCNCKPTD ENPCGFDSEC LNRMLMFECH PQVCPAGEFC QNQCFTKRQY PETKIIKTDG 430 440 450 460 470 480 KGWGLVAKRD IRKGEFVNEY VGELIDEEEC MARIKHAHEN DITHFYMLTI DKDRIIDAGP 490 500 510 520 530 540 KGNYSRFMNH SCQPNCETLK WTVNGDTRVG LFAVCDIPAG TELTFNYNLD CLGNEKTVCR 550 560 570 580 590 600 CGASNCSGFL GDRPKTSTTL SSEEKGKKTK KKTRRRRAKG EGKRQSEDEC FRCGDGGQLV 610 620 630 640 650 660 LCDRKFCTKA YHLSCLGLGK RPFGKWECPW HHCDVCGKPS TSFCHLCPNS FCKEHQDGTA 670 680 690 700 710 FSCTPDGRSY CCEHDLGAAS VRSTKTEKPP PEPGKPKGKR RRRRGWRRVT EGK
	Isoform 3 [UniParc]. Checksum: 84D0A99908BD7674	FASTA	647	71,410
	10 20 30 40 50 60 MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 70 80 90 100 110 120 VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 130 140 150 160 170 180 SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE 190 200 210 220 230 240 QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV 250 260 270 280 290 300 SADPLLHSYT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ 310 320 330 340 350 360 APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG DQLHLNPQVA 370 380 390 400 410 420 KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR RRAKLCSSAE TLESHPDIGK 430 440 450 460 470 480 STPQKTAEAD PRRGVGSPPG RKKTTVSMPR SRKGDAASQF LVFCQKHRDE VVAEHPDASG 490 500 510 520 530 540 EEIEELLRSQ WSLLSEKQRA RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE 550 560 570 580 590 600 AEDTPRKRLR TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR 610 620 630 640 NRASTAASSA LGFSKSSSPS ASLTENELLW EPTPVKLDLN PAALYCT
	Isoform 4 (REII-BP) (IL-5 promoter REII-region-binding protein) [UniParc]. Checksum: DEA3DCB455993E56	FASTA	584	66,387
	10 20 30 40 50 60 MMRCVRCPVA YHSGDACLAA GCSVIASNSI ICTAHFTARK GKRHHAHVNV SWCFVCSKGG 70 80 90 100 110 120 SLLCCESCPA AFHPDCLNIE MPDGSWFCND CRAGKKLHFQ DIIWVKLGNY RWWPAEVCHP 130 140 150 160 170 180 KNVPPNIQKM KHEIGEFPVF FFGSKDYYWT HQARVFPYME GDRGSRYQGV RGIGRVFKNA 190 200 210 220 230 240 LQEAEARFRE IKLQREARET QESERKPPPY KHIKVNKPYG KVQIYTADIS EIPKCNCKPT 250 260 270 280 290 300 DENPCGFDSE CLNRMLMFEC HPQVCPAGEF CQNQCFTKRQ YPETKIIKTD GKGWGLVAKR 310 320 330 340 350 360 DIRKGEFVNE YVGELIDEEE CMARIKHAHE NDITHFYMLT IDKDRIIDAG PKGNYSRFMN 370 380 390 400 410 420 HSCQPNCETL KWTVNGDTRV GLFAVCDIPA GTELTFNYNL DCLGNEKTVC RCGASNCSGF 430 440 450 460 470 480 LGDRPKTSTT LSSEEKGKKT KKKTRRRRAK GEGKRQSEDE CFRCGDGGQL VLCDRKFCTK 490 500 510 520 530 540 AYHLSCLGLG KRPFGKWECP WHHCDVCGKP STSFCHLCPN SFCKEHQDGT AFSCTPDGRS 550 560 570 580 YCCEHDLGAA SVRSTKTEKP PPEPGKPKGK RRRRRGWRRV TEGK
	Isoform 5 [UniParc]. Checksum: EC79BB4E13F1FA93	FASTA	629	69,398
	10 20 30 40 50 60 MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 70 80 90 100 110 120 VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 130 140 150 160 170 180 SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE 190 200 210 220 230 240 QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV 250 260 270 280 290 300 SADPLLHSYT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ 310 320 330 340 350 360 APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG DQLHLNPQVA 370 380 390 400 410 420 KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR RRAKLCSSAE TLESHPDIGK 430 440 450 460 470 480 STPQKTAEAD PRRGVGSPPG RKKTTVSMPR SRKGDAASQF LVFCQKHRDE VVAEHPDASG 490 500 510 520 530 540 EEIEELLRSQ WSLLSEKQRA RYNTKFALVA PVQAEEDSGN VNGKKRNHTK RIQDPTEDAE 550 560 570 580 590 600 AEDTPRKRLR TDKHSLRKRD TITDKTARTS SYKAMEAASS LKSQAATKNL SDACKPLKKR 610 620 NRASTAASSA LGFSKSSSPS ASLTENEVK
	Isoform 6 [UniParc]. Checksum: 80778F7E2CFB5C35	FASTA	484	53,484
	10 20 30 40 50 60 MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 70 80 90 100 110 120 VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 130 140 150 160 170 180 SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE 190 200 210 220 230 240 QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV 250 260 270 280 290 300 SADPLLHSYT KLKGQKKSAR QYHVQFFGDA PERAWIFEKS LVAFEGEGQF EKLCQESAKQ 310 320 330 340 350 360 APTKAEKIKL LKPISGKLRA QWEMGIVQAE EAASMSVEER KAKFTFLYVG DQLHLNPQVA 370 380 390 400 410 420 KEAGIAAESL GEMAESSGVS EEAAENPKSV REECIPMKRR RRAKLCSSAE TLESHPDIGK 430 440 450 460 470 480 STPQKTAEAD PRRGVGSPPG RKKTTVSMPR SRKGDAASQF LVFCQKHRDE VSTKLCFMLA SFRI
	Isoform 7 [UniParc]. Checksum: B8091D5246B40A60	FASTA	273	30,199
	10 20 30 40 50 60 MEFSIKQSPL SVQSVVKCIK MKQAPEILGS ANGKTPSCEV NRECSVFLSK AQLSSSLQEG 70 80 90 100 110 120 VMQKFNGHDA LPFIPADKLK DLTSRVFNGE PGAHDAKLRF ESQEMKGIGT PPNTTPIKNG 130 140 150 160 170 180 SPEIKLKITK TYMNGKPLFE SSICGDSAAD VSQSEENGQK PENKARRNRK RSIKYDSLLE 190 200 210 220 230 240 QGLVEAALVS KISSPSDKKI PAKKESCPNT GRDKDHLLKY NVGDLVWSKV SGYPWWPCMV 250 260 270 SADPLLHSYT KLKGIFKSKK FEHLKTSQIV LKD

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts." Chesi M., Nardini E., Lim R.S.C., Smith K.D., Kuehl W.M., Bergsagel P.L. Blood 92:3025-3034(1998) [PubMed: 9787135] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3), CHROMOSOMAL TRANSLOCATION WITH IGH. Tissue: Myeloma.
[2]	"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: 9618163] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1; 3 AND 5), TISSUE SPECIFICITY, CHROMOSOMAL TRANSLOCATION WITH IGH.
[3]	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)
[4]	"A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription." Garlisi C.G., Uss A.S., Xiao H., Tian F., Sheridan K.E., Wang L., Motasim Billah M., Egan R.W., Stranick K.S., Umland S.P. Am. J. Respir. Cell Mol. Biol. 24:90-98(2001) [PubMed: 11152655] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4), FUNCTION, DNA-BINDING.
[5]	"Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients." Keats J.J., Maxwell C.A., Taylor B.J., Hendzel M.J., Chesi M., Bergsagel P.L., Larratt L.M., Mant M.J., Reiman T., Belch A.R., Pilarski L.M. Blood 105:4060-4069(2005) [PubMed: 15677557] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 7), SUBCELLULAR LOCATION.
[6]	"Mammalian trithorax- and ASH1-like proteins: putative chromatin regulators which contain PHD fingers and SET domains." Angrand P.-O., Valvatne H., Jeanmougin F., Adamson A., van der Hoeven F., Olsen L., Tekotte H., Huang N., Poch O., Lamerdin J., Chambon P., Losson R., Stewart A., Aasland R. Submitted (JUN-1998) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
[7]	"Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro." Kikuno R., Nagase T., Ishikawa K., Hirosawa M., Miyajima N., Tanaka A., Kotani H., Nomura N., Ohara O. DNA Res. 6:197-205(1999) [PubMed: 10470851] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). Tissue: Brain.
[8]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed: 14702039] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3). Tissue: Amygdala.
[9]	"Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H. , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K. Nature 434:724-731(2005) [PubMed: 15815621] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[10]	Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C. Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[11]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 3; 4 AND 6). Tissue: Ovary and Spleen.
[12]	"Detection of t(4;14)(p16.3;q32) chromosomal translocation in multiple myeloma by reverse transcription-polymerase chain reaction analysis of IGH-MMSET fusion transcripts." Malgeri U., Baldini L., Perfetti V., Fabris S., Vignarelli M.C., Colombo G., Lotti V., Compasso S., Bogni S., Lombardi L., Maiolo A.T., Neri A. Cancer Res. 60:4058-4061(2000) [PubMed: 10945609] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH IGH.
[13]	"Translocation T(4;14)(p16.3;q32) is a recurrent genetic lesion in primary amyloidosis." Perfetti V., Coluccia A.M., Intini D., Malgeri U., Vignarelli M.C., Casarini S., Merlini G., Neri A. Am. J. Pathol. 158:1599-1603(2001) [PubMed: 11337357] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH IGH.
[14]	"A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript." Santra M., Zhan F., Tian E., Barlogie B., Shaughnessy J. Jr. Blood 101:2374-2376(2003) [PubMed: 12433679] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH IGH.
[15]	"Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation." Intini D., Fabris S., Storlazzi T., Otsuki T., Ciceri G., Verdelli D., Lombardi L., Rocchi M., Neri A. Br. J. Haematol. 126:437-439(2004) [PubMed: 15257719] [Abstract] Cited for: CHROMOSOMAL TRANSLOCATION WITH IGH.
[16]	"Identification of ID-1 as a potential target gene of MMSET in multiple myeloma." Hudlebusch H.R., Theilgaard-Moench K., Lodahl M., Johnsen H.E., Rasmussen T. Br. J. Haematol. 130:700-708(2005) [PubMed: 16115125] [Abstract] Cited for: FUNCTION.
[17]	"Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma." Todoerti K., Ronchetti D., Agnelli L., Castellani S., Marelli S., Deliliers G.L., Zanella A., Lombardi L., Neri A. Br. J. Haematol. 131:214-218(2005) [PubMed: 16197452] [Abstract] Cited for: SUBCELLULAR LOCATION.
[18]	"The etiology of Wolf-Hirschhorn syndrome." Bergemann A.D., Cole F., Hirschhorn K. Trends Genet. 21:188-195(2005) [PubMed: 15734578] [Abstract] Cited for: INVOLVEMENT IN WHS.
[19]	"Global, in vivo, and site-specific phosphorylation dynamics in signaling networks." Olsen J.V., Blagoev B., Gnad F., Macek B., Kumar C., Mortensen P., Mann M. Cell 127:635-648(2006) [PubMed: 17081983] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-544, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[20]	"ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." Matsuoka S., Ballif B.A., Smogorzewska A., McDonald E.R. III, Hurov K.E., Luo J., Bakalarski C.E., Zhao Z., Solimini N., Lerenthal Y., Shiloh Y., Gygi S.P., Elledge S.J. Science 316:1160-1166(2007) [PubMed: 17525332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-102, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[21]	"Evaluation of the low-specificity protease elastase for large-scale phosphoproteome analysis." Wang B., Malik R., Nigg E.A., Korner R. Anal. Chem. 80:9526-9533(2008) [PubMed: 19007248] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-437 AND THR-544, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[22]	"A quantitative atlas of mitotic phosphorylation." Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E., Elledge S.J., Gygi S.P. Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008) [PubMed: 18669648] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-110; THR-115; SER-121 AND THR-544, MASS SPECTROMETRY. Tissue: Cervix carcinoma.
[23]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-110; THR-114; THR-115; SER-121 AND THR-544, MASS SPECTROMETRY. Tissue: Embryonic kidney.
[24]	"Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions." Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K., Rodionov V., Han D.K. Sci. Signal. 2:RA46-RA46(2009) [PubMed: 19690332] [Abstract] Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT THR-110; THR-114; SER-121; SER-376 AND THR-544, MASS SPECTROMETRY. Tissue: Leukemic T-cell.
[25]	"Lysine acetylation targets protein complexes and co-regulates major cellular functions." Choudhary C., Kumar C., Gnad F., Nielsen M.L., Rehman M., Walther T., Olsen J.V., Mann M. Science 325:834-840(2009) [PubMed: 19608861] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-779 AND LYS-781, MASS SPECTROMETRY.
+	Additional computationally mapped references.

Web resources

Atlas of Genetics and Cytogenetics in Oncology and Haematology

Cross-references

Sequence databases
EMBL GenBank DDBJ	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. AL132868 Genomic DNA. Translation: CAM15221.1. AL132868 Genomic DNA. Translation: CAM15222.1. 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.
IPI	IPI00107486. IPI00107487. IPI00218240. IPI00334604. IPI00470433. IPI00790144. IPI00792674.
RefSeq	NP_001035889.1. NM_001042424.2. NP_015627.1. NM_007331.1. NP_579877.1. NM_133330.2. NP_579878.1. NM_133331.2. NP_579889.1. NM_133334.2. NP_579890.1. NM_133335.3.
UniGene	Hs.113876.
3D structure databases
HSSP	HSSP built from PDB template 2DAQ based on UniProtKB Q9BYU8.
ProteinModelPortal	O96028.
SMR	O96028. Positions 211-344, 661-768, 833-859, 877-973, 976-1203, 1238-1281.
ModBase	Search...
Protein-protein interaction databases
IntAct	O96028. 1 interaction.
MINT	MINT-7103764.
STRING	O96028.
PTM databases
PhosphoSite	O96028.
Proteomic databases
PRIDE	O96028.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000353275; ENSP00000329167; ENSG00000109685. ENST00000382891; ENSP00000372347; ENSG00000109685. ENST00000382892; ENSP00000372348; ENSG00000109685. ENST00000382895; ENSP00000372351; ENSG00000109685.
GeneID	7468.
KEGG	hsa:7468.
UCSC	uc003gdx.2. human. uc003gdz.2. human. uc003geg.1. human. uc003geh.1. human. uc003gei.2. human.
Organism-specific databases
CTD	7468.
GeneCards	GC04P001840.
HGNC	HGNC:12766. WHSC1.
HPA	HPA015315. HPA015801.
MIM	602952. gene.
neXtProt	NX_O96028.
Orphanet	280. Wolf-Hirschhorn syndrome.
PharmGKB	PA37369.
HUGE	Search...
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00600000084164.
HOVERGEN	HBG079979.
InParanoid	O96028.
OMA	DVKRCVV.
PhylomeDB	O96028.
Gene expression databases
ArrayExpress	O96028.
Bgee	O96028.
Genevestigator	O96028.
GermOnline	ENSG00000109685. Homo sapiens.
Family and domain databases
InterPro	IPR006560. AWS. IPR000910. HMG_HMG1/HMG2. IPR009071. HMG_superfamily. IPR003616. Post-SET_dom. IPR000313. PWWP. 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]
Gene3D	G3DSA:1.10.30.10. HMG-box. 1 hit. G3DSA:3.30.40.10. Znf_RING/FYVE/PHD. 3 hits.
KO	K11424.
Pfam	PF00505. HMG_box. 1 hit. PF00628. PHD. 1 hit. PF00855. PWWP. 2 hits. PF00856. SET. 1 hit. [Graphical view]
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. [Graphical view]
SUPFAM	SSF57903. FYVE_PHD_ZnF. 3 hits. SSF47095. HMG-box. 1 hit.
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. [Graphical view]
ProtoNet	Search...
Other
NextBio	29246.
SOURCE	Search...

Entry information

Entry name

NSD2_HUMAN

Accession

Primary (citable) accession number: O96028
Secondary accession number(s): A2A2T3 , A2A2T4, A7MCZ1, D3DVQ2, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 31, 2006
Last sequence update:	May 1, 1999
Last modified:	December 14, 2011
This is version 102 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.