HUMAN:NSD2

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Species (Taxon ID)	Homo sapiens (Human). (taxon:9606)
Gene Name(s)	WHSC1 ( synonyms: KIAA1090, MMSET, NSD2, TRX5 )
Protein Name(s)	Probable histone-lysine N-methyltransferase NSD2 Multiple myeloma SET domain-containing protein Nuclear SET domain-containing protein 2 Protein trithorax-5 Wolf-Hirschhorn syndrome candidate 1 protein
External Links
UniProt Identifier	NSD2_HUMAN
UniProt Accessions	O96028, A2A2T3, A2A2T4, A7MCZ1, D3DVQ2, O96031, Q4VBY8, Q672J1, Q6IS00, Q86V01, Q9BZB4, Q9UI92, Q9UPR2,
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, AL132868, AL132868, CH471131, CH471131, CH471131, CH471131, CH471131, BC052254, BC070176, BC094825, BC141815, BC152412,
RefSeq	NP_001035889.1, NP_015627.1, NP_579877.1, NP_579878.1, NP_579889.1, NP_579890.1,
IntAct	O96028,
Ensembl	ENST00000353275, ENST00000382891, ENST00000382892, ENST00000382895,
Pfam	PF00505, PF00628, PF00855, PF00856,

Annotations

Qualifier	GO ID	GO term name	Reference	Evidence Code	with/from	Aspect	Notes	Status
	GO:0000122	negative regulation of transcription from RNA polymerase II promoter	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	P
	GO:0003149	membranous septum morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	P
	GO:0003289	atrial septum primum morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	P
	GO:0003290	atrial septum secundum morphogenesis	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	P
	GO:0003677	DNA binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000910	F
	GO:0003677	DNA binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0238	F
	GO:0003682	chromatin binding	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	F
	GO:0005634	nucleus	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR006560	C
	GO:0005634	nucleus	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0539	C
	GO:0005634	nucleus	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	C
	GO:0005634	nucleus	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0191	C
	GO:0005634	nucleus	PMID:18029348^[1]	IDA: Inferred from Direct Assay		C
	GO:0005694	chromosome	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0158	C
	GO:0005694	chromosome	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0468	C
	GO:0005730	nucleolus	PMID:18029348^[1]	IDA: Inferred from Direct Assay		C
	GO:0005737	cytoplasm	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0963	C
	GO:0005737	cytoplasm	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0086	C
	GO:0006351	transcription, DNA-dependent	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0804	P
	GO:0006355	regulation of transcription, DNA-dependent	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0805	P
	GO:0008168	methyltransferase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0489	F
	GO:0008270	zinc ion binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001841	F
	GO:0008270	zinc ion binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001965	F
	GO:0008270	zinc ion binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR011011	F
	GO:0009653	anatomical structure morphogenesis	PMID:9618163^[2]	TAS: Traceable Author Statement		P
	GO:0016568	chromatin modification	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0156	P
	GO:0016568	chromatin modification	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	P
	GO:0016740	transferase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0808	F
	GO:0018024	histone-lysine N-methyltransferase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR006560	F
	GO:0018024	histone-lysine N-methyltransferase activity	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:2.1.1.43	F
	GO:0018024	histone-lysine N-methyltransferase activity	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	F
	GO:0031965	nuclear membrane	PMID:18029348^[1]	IDA: Inferred from Direct Assay		C
	GO:0032259	methylation	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0489	P
	GO:0034968	histone lysine methylation	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR006560	P
	GO:0034968	histone lysine methylation	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:2.1.1.43	P
	GO:0034968	histone lysine methylation	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	P
	GO:0046872	metal ion binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0479	F
	GO:0006302	double-strand break repair	PMID:21293379^[3]	IMP: Inferred from Mutant Phenotype		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:0060348	bone development	GO_REF:0000019	IEA: Inferred from Electronic Annotation	Ensembl:ENSMUSP00000075210	P
	GO:0043517	positive regulation of DNA damage response, signal transduction by p53 class mediator	PMID:21293379^[3]	IMP: Inferred from Mutant Phenotype		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^[3]	IMP: Inferred from Mutant Phenotype		F	Supplemental Figure 5	complete
	GO:0003677	DNA binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR000910	F
	GO:0003677	DNA binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0238	F
	GO:0005634	nucleus	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR006560	C
	GO:0005634	nucleus	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0539	C
	GO:0005634	nucleus	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0191	C
	GO:0005634	nucleus	PMID:18029348^[1]	IDA: Inferred from Direct Assay		C
	GO:0005694	chromosome	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0158	C
	GO:0005694	chromosome	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0468	C
	GO:0005730	nucleolus	PMID:18029348^[1]	IDA: Inferred from Direct Assay		C
	GO:0005737	cytoplasm	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0963	C
	GO:0005737	cytoplasm	GO_REF:0000023	IEA: Inferred from Electronic Annotation	SP_SL:SL-0086	C
	GO:0006351	transcription, DNA-dependent	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0804	P
	GO:0006355	regulation of transcription, DNA-dependent	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0805	P
	GO:0008168	methyltransferase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0489	F
	GO:0008270	zinc ion binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001841	F
	GO:0008270	zinc ion binding	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR001965	F
	GO:0009653	anatomical structure morphogenesis	PMID:9618163^[2]	TAS: Traceable Author Statement		P
	GO:0016568	chromatin modification	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0156	P
	GO:0016740	transferase activity	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0808	F
	GO:0018024	histone-lysine N-methyltransferase activity	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR006560	F
	GO:0018024	histone-lysine N-methyltransferase activity	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:2.1.1.43	F
	GO:0031965	nuclear membrane	PMID:18029348^[1]	IDA: Inferred from Direct Assay		C
	GO:0032259	methylation	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0489	P
	GO:0034968	histone lysine methylation	GO_REF:0000002	IEA: Inferred from Electronic Annotation	InterPro:IPR006560	P
	GO:0034968	histone lysine methylation	GO_REF:0000003	IEA: Inferred from Electronic Annotation	EC:2.1.1.43	P
	GO:0046872	metal ion binding	GO_REF:0000004	IEA: Inferred from Electronic Annotation	SP_KW:KW-0479	F
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Notes

References

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

↑ ^1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Barbe L et al. (2008) Toward a confocal subcellular atlas of the human proteome. Mol Cell Proteomics 7: 499-508 PubMed GONUTS page
↑ ^2.0 ^2.1 Stec I et al. (1998) 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. Hum Mol Genet 7: 1071-82 PubMed GONUTS page
↑ ^3.0 ^3.1 ^3.2 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:18029348-0] 1.0 ^1.1 ^1.2 ^1.3 ^1.4 ^1.5 Barbe L et al. (2008) Toward a confocal subcellular atlas of the human proteome. Mol Cell Proteomics 7: 499-508 PubMed GONUTS page

[PMID:9618163-1] 2.0 ^2.1 Stec I et al. (1998) 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. Hum Mol Genet 7: 1071-82 PubMed GONUTS page

[PMID:21293379-2] 3.0 ^3.1 ^3.2 Pei H et al. (2011) MMSET regulates histone H4K20 methylation and 53BP1 accumulation at DNA damage sites. Nature 470: 124-8 PubMed GONUTS page

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HUMAN:NSD2

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