HUMAN:NSD2

Species (Taxon ID)	Homo sapiens (Human). (9606)
Gene Name(s)	WHSC1 (synonyms: KIAA1090, MMSET, NSD2, TRX5)
Protein Name(s)	Histone-lysine N-methyltransferase NSD2 Multiple myeloma SET domain-containing protein MMSET Nuclear SET domain-containing protein 2 NSD2 Protein trithorax-5 Wolf-Hirschhorn syndrome candidate 1 protein WHSC1
External Links
UniProt	O96028
EMBL	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 AL132868 CH471131 CH471131 CH471131 CH471131 CH471131 BC052254 BC070176 BC094825 BC141815 BC152412
CCDS	CCDS3356.1 CCDS33940.1 CCDS46999.1
RefSeq	NP_001035889.1 NP_015627.1 NP_579877.1 NP_579878.1 NP_579889.1 NP_579890.1 XP_005248058.1 XP_005248062.1 XP_006713977.1 XP_006713978.1
UniGene	Hs.113876
ProteinModelPortal	O96028
SMR	O96028
BioGrid	113306
DIP	DIP-57224N
IntAct	O96028
MINT	MINT-7103764
ChEMBL	CHEMBL3108645
PhosphoSite	O96028
MaxQB	O96028
PaxDb	O96028
PRIDE	O96028
DNASU	7468
Ensembl	ENST00000312087 ENST00000353275 ENST00000382888 ENST00000382891 ENST00000382892 ENST00000382895 ENST00000398261 ENST00000420906 ENST00000436793 ENST00000503128 ENST00000508803 ENST00000512700 ENST00000514045
GeneID	7468
KEGG	hsa:7468
UCSC	uc003gdx.3 uc003gdy.1 uc003gdz.4 uc003geg.1 uc003geh.1 uc003gei.4 uc010icf.3
CTD	7468
GeneCards	GC04P001840
GeneReviews	WHSC1
HGNC	HGNC:12766
HPA	HPA015315 HPA015801
MIM	602952
neXtProt	NX_O96028
Orphanet	280
PharmGKB	PA37369
eggNOG	COG2940
GeneTree	ENSGT00760000118855
HOVERGEN	HBG053345
InParanoid	O96028
KO	K11424
OMA	PSKGKMM
OrthoDB	EOG7Z69BG
PhylomeDB	O96028
TreeFam	TF329088
ChiTaRS	WHSC1
GeneWiki	WHSC1
GenomeRNAi	7468
NextBio	29246
PRO	PR:O96028
Proteomes	UP000005640
Bgee	O96028
ExpressionAtlas	O96028
Genevestigator	O96028
GO	GO:0005694 GO:0005737 GO:0031965 GO:0005730 GO:0005634 GO:0003682 GO:0003677 GO:0018024 GO:0008270 GO:0009653 GO:0003289 GO:0003290 GO:0060348 GO:0003149 GO:0000122 GO:0006351
Gene3D	1.10.30.10 3.30.40.10
InterPro	IPR006560 IPR009071 IPR003616 IPR000313 IPR001214 IPR019786 IPR011011 IPR001965 IPR019787 IPR001841 IPR013083
Pfam	PF00505 PF00628 PF00855 PF00856
SMART	SM00570 SM00398 SM00249 SM00508 SM00293 SM00184 SM00317
SUPFAM	SSF47095 SSF57903
PROSITE	PS51215 PS50118 PS50868 PS50812 PS50280 PS01359 PS50016

Annotations

Qualifier	GO ID	GO term name	Reference	ECO ID	ECO term name	with/from	Aspect	Notes	Status
	GO:0006302	double-strand break repair	PMID:21293379^[1]	ECO:0000315			P	Figure 1d/e (MMSET rows/columns) MMSET increased when DSB cells and colocalizes with 53bp1, a known DSB-repair preotein when DSB is induced. "Accumulated at DSB" (pg. 124 right column 2nd paragraph) It is IMP because cell phentype is changed by induced DNA breaks and it is only DSB repair because it is shown to be involed in the process of DNA repair but the mechanism/role it takes is not shown by this evidence.	complete
	GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	PMID:21293379^[1]	ECO:0000315			P	Figure 2c 53pb1 column. When MMSET is knocked down, 53bp1 foci formation are decreased. "Downregulation of MMSET significantly decreased DNA-damage induced focus formulation of 53bp1" (pg. 124, right column, last paragraph) This is IMP because of the use of shRNA MMSET.	complete
	GO:0008276	protein methyltransferase activity	PMID:21293379^[1]	ECO:0000315			F	Supplemental Figure 5	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	GO_REF:0000113	ECO:0005556	multiple sequence alignment evidence used in manual assertion	UniProtKB:Q8BVE8	F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[2]	ECO:0000303	author statement without traceable support used in manual assertion		F	Seeded From UniProt	complete
enables	GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	PMID:19274049^[2]	ECO:0000255	match to sequence model evidence used in manual assertion	InterPro:IPR009071	F	Seeded From UniProt	complete
enables	GO:0046975	histone methyltransferase activity (H3-K36 specific)	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0030486 MGI:MGI:1276545 PANTHER:PTN002739645 PomBase:SPAC29B12.02c SGD:S000003704 UniProtKB:Q8IE95 UniProtKB:Q96L73 WB:WBGene00003222	F	Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	MGI:MGI:1276545 MGI:MGI:1276574 MGI:MGI:2142581 PANTHER:PTN002739645 SGD:S000003704 UniProtKB:Q8IE95 UniProtKB:Q96L73 UniProtKB:Q9BZ95 WB:WBGene00003040 WB:WBGene00016603	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0030486 MGI:MGI:1276545 MGI:MGI:1276574 PANTHER:PTN002739645 SGD:S000003704 TAIR:locus:2030131 TAIR:locus:2126714 UniProtKB:O96028 UniProtKB:Q2LAE1 UniProtKB:Q8IE95 UniProtKB:Q9BZ95 WB:WBGene00003222	C	Seeded From UniProt	complete
part_of	GO:0000785	chromatin	PMID:21873635^[3]	ECO:0000318	biological aspect of ancestor evidence used in manual assertion	FB:FBgn0039559 PANTHER:PTN002739645 TAIR:locus:2126714	C	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000052	ECO:0000314	direct assay evidence used in manual assertion		C	Seeded From UniProt	complete
involved_in	GO:2001032	regulation of double-strand break repair via nonhomologous end joining	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
involved_in	GO:0070201	regulation of establishment of protein localization	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
involved_in	GO:0060348	bone development	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
involved_in	GO:0048298	positive regulation of isotype switching to IgA isotypes	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
enables	GO:0043565	sequence-specific DNA binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	F	Seeded From UniProt	complete
involved_in	GO:0034770	histone H4-K20 methylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
enables	GO:0018024	histone-lysine N-methyltransferase activity	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	F	Seeded From UniProt	complete
involved_in	GO:0010452	histone H3-K36 methylation	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
involved_in	GO:0006355	regulation of transcription, DNA-templated	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	C	Seeded From UniProt	complete
enables	GO:0003682	chromatin binding	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	F	Seeded From UniProt	complete
involved_in	GO:0003290	atrial septum secundum morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
involved_in	GO:0003289	atrial septum primum morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
involved_in	GO:0003149	membranous septum morphogenesis	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
involved_in	GO:0000122	negative regulation of transcription by RNA polymerase II	GO_REF:0000107	ECO:0000265	sequence orthology evidence used in automatic assertion	UniProtKB:Q8BVE8 ensembl:ENSMUSP00000075210	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006560	C	Seeded From UniProt	complete
enables	GO:0018024	histone-lysine N-methyltransferase activity	GO_REF:0000002	ECO:0000256	match to sequence model evidence used in automatic assertion	InterPro:IPR006560	F	Seeded From UniProt	complete
enables	GO:0018024	histone-lysine N-methyltransferase activity	GO_REF:0000003	ECO:0000501	evidence used in automatic assertion	EC:2.1.1.43	F	Seeded From UniProt	complete
enables	GO:0042799	histone methyltransferase activity (H4-K20 specific)	Reactome:R-HSA-5682965	ECO:0000304	author statement supported by traceable reference used in manual assertion		F	Seeded From UniProt	complete
involved_in	GO:0006303	double-strand break repair via nonhomologous end joining	Reactome:R-HSA-5693571	ECO:0000304	author statement supported by traceable reference used in manual assertion		P	Seeded From UniProt	complete
part_of	GO:0005654	nucleoplasm	Reactome:R-HSA-69891 Reactome:R-HSA-5693599 Reactome:R-HSA-5693566 Reactome:R-HSA-5693551 Reactome:R-HSA-5686900 Reactome:R-HSA-5686704 Reactome:R-HSA-5686685 Reactome:R-HSA-5684071 Reactome:R-HSA-5684052 Reactome:R-HSA-5683801 Reactome:R-HSA-5683735 Reactome:R-HSA-5683425 Reactome:R-HSA-5683405 Reactome:R-HSA-5683385 Reactome:R-HSA-5683384 Reactome:R-HSA-5683077 Reactome:R-HSA-5682992 Reactome:R-HSA-5682983 Reactome:R-HSA-5682967 Reactome:R-HSA-5682965 Reactome:R-HSA-5682863 Reactome:R-HSA-5682858 Reactome:R-HSA-5682629 Reactome:R-HSA-5682607 Reactome:R-HSA-5682598 Reactome:R-HSA-5682588 Reactome:R-HSA-5682586 Reactome:R-HSA-5649802 Reactome:R-HSA-5649800 Reactome:R-HSA-5638333 Reactome:R-HSA-5638157 Reactome:R-HSA-4827383	ECO:0000304	author statement supported by traceable reference used in manual assertion		C	Seeded From UniProt	complete
enables	GO:0046872	metal ion binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0479	F	Seeded From UniProt	complete
enables	GO:0016740	transferase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0808	F	Seeded From UniProt	complete
enables	GO:0008168	methyltransferase activity	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0489	F	Seeded From UniProt	complete
involved_in	GO:0006325	chromatin organization	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0156	P	Seeded From UniProt	complete
enables	GO:0003677	DNA binding	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0238	F	Seeded From UniProt	complete
part_of	GO:0005694	chromosome	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0158 UniProtKB-SubCell:SL-0468	C	Seeded From UniProt	complete
involved_in	GO:0032259	methylation	GO_REF:0000037	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0489	P	Seeded From UniProt	complete
part_of	GO:0005634	nucleus	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0539 UniProtKB-SubCell:SL-0191	C	Seeded From UniProt	complete
part_of	GO:0005737	cytoplasm	GO_REF:0000037 GO_REF:0000039	ECO:0000322	imported manually asserted information used in automatic assertion	UniProtKB-KW:KW-0963 UniProtKB-SubCell:SL-0086	C	Seeded From UniProt	complete
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Notes

References

See Help:References for how to manage references in GONUTS.

↑ ^1.0 ^1.1 ^1.2 Pei, H et al. (2011) MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites. Nature 470 124-8 PubMed GONUTS page
↑ ^2.0 ^2.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 ^3.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

[PMID:21293379-1] 1.0 ^1.1 ^1.2 Pei, H et al. (2011) MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites. Nature 470 124-8 PubMed GONUTS page

[PMID:19274049-2] 2.0 ^2.1 Vaquerizas, JM et al. (2009) A census of human transcription factors: function, expression and evolution. Nat. Rev. Genet. 10 252-63 PubMed GONUTS page

[PMID:21873635-3] 3.0 ^3.1 ^3.2 ^3.3 Gaudet, P et al. (2011) Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12 449-62 PubMed GONUTS page

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HUMAN:NSD2

Contents

Annotations

Notes

References

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