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WHSC1 Gene

protein-coding GIFtS: 64

GC04P001840

Wolf-Hirschhorn syndrome candidate 1
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database

		Products

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc , and/or ⁷Ensembl, ⁸miRBase)
About This Section

Aliases & Descriptions
Wolf-Hirschhorn syndrome candidate 1¹ ²		MGC176638²
NSD2¹ ² ³		WHS²
MMSET¹ ² ³		IL5 promoter REII region-binding protein²
Protein trithorax-5² ³		OTTHUMP00000220798²
Nuclear SET domain-containing protein 2² ³		FLJ23286²
Wolf-Hirschhorn syndrome candidate 1 protein² ³		OTTHUMP00000159146²
Multiple myeloma SET domain-containing protein² ³		trithorax/ash1-related protein 5²
TRX5² ³		OTTHUMP00000220795²
KIAA1090² ³		OTTHUMP00000196943²
REIIBP²		multiple myeloma SET domain containing protein type III²
probable histone-lysine N-methyltransferase NSD2²		EC 2.1.1.43³

External Ids:	HGNC: 12766¹	Entrez Gene: 7468²	Ensembl: ENSG00000109685⁷	UniProtKB: O96028³

Export aliases for WHSC1 gene to outside databases

Previous GC identifers: GC04P001886 GC04M001800 GC04P001834 GC04P001856

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for WHSC1:

This gene encodes a protein that contains four domains present in other developmental proteins: a PWWP domain, an HMG

box, a SET domain, and a PHD-type zinc finger. It is expressed ubiquitously in early development. Wolf-Hirschhorn

syndrome (WHS) is a malformation syndrome associated with a hemizygous deletion of the distal short arm of chromosome

4. This gene maps to the 165 kb WHS critical region and has also been involved in the chromosomal translocation

t(4;14)(p16.3;q32.3) in multiple myelomas. Alternative splicing of this gene results in multiple transcript variants

encoding different isoforms. Some transcript variants are nonsense-mediated mRNA (NMD) decay candidates, hence not

represented as reference sequences. (provided by RefSeq)

UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028

Function: Probable histone methyltransferase (By similarity). May act as a transcription regulator that binds DNA and

suppresses IL5 transcription

Gene Wiki entry for WHSC1

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 60), Regulatory elements and Epigenetics data according to Qiagen and/or SABiosciences)
About This Section

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the WHSC1 gene promoter:
         HOXA9B   Meis-1   MRF-2   GATA-1   Pbx1a   POU3F2   JunB   JunD   c-Fos   c-Jun
         Other transcription factors

Search SABiosciences Chromatin IP Primers for WHSC1

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4p16.3 Ensembl cytogenetic band: 4p16.3 HGNC cytogenetic band: 4p16.3

WHSC1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
WHSC1 gene location

GeneLoc gene densities for chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04P001840: view genomic region (about GC identifiers)

Start:	1,813,925 bp from pter
End:	1,983,934 bp from pter
Size:	170,010 bases
Orientation:	plus strand

RefSeq DNA sequence:

NC_000004.11 NT_006051.18

(According to ¹UniProtKB, neXtProt, and/or Ensembl, Phosphorylation sites according to ²Phosphosite, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from Millipore, Sigma-Aldrich, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, and/or ProSpec,
Biochemical Assays by Millipore, Sigma-Aldrich, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Dec 2010 and Entrez Gene, Antibodies by Millipore, Sigma-Aldrich, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, and/or Epitomics)
About This Section

UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028 (See protein sequence)

Recommended Name: Probable histone-lysine N-methyltransferase NSD2

Size: 1365 amino acids; 152258 Da

Subcellular location: Nucleus. Chromosome (Potential)

Subcellular location: Isoform 4: Cytoplasm

Sequence caution: Sequence=BAA83042.2; Type=Erroneous initiation;

Secondary accessions: A2A2T3 A2A2T4 A7MCZ1 O96031 Q4VBY8 Q672J1 Q6IS00 Q86V01 Q9BZB4 Q9UI92 Q9UPR2

Alternative splicing: 7 isoforms: O96028-1 O96028-2 O96028-3 O96028-4 O96028-5 O96028-6 O96028-7

Explore the universe of human proteins at neXtProt for WHSC1: NX_O96028

Post-translational modifications:

Phosphorylated upon DNA damage, probably by ATM or ATR¹

View phosphorylation sites using PhosphoSite²

REFSEQ proteins (6 alternative transcripts):

NP_001035889.1 NP_015627.1 NP_579877.1 NP_579878.1 NP_579889.1 NP_579890.1

ENSEMBL proteins:

ENSP00000427516 ENSP00000421551 ENSP00000381311 ENSP00000372345 ENSP00000425761 ENSP00000399251

ENSP00000329167 ENSP00000423972 ENSP00000424482 ENSP00000372347 ENSP00000372344 ENSP00000416725

ENSP00000427434 ENSP00000372348 ENSP00000264753 ENSP00000421681 ENSP00000372351 ENSP00000308780

ENSP00000422878 ENSP00000425094

Human Recombinant Proteins

	Browse Purified and Recombinant Proteins at Millipore
	Sigma-Aldrich Proteins for WHSC1
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	Browse OriGene full length recombinant human proteins expressed in human HEK293 cells Browse OriGene Protein Over-expression Lysates
	GenScript Custom Purified and Recombinant Proteins Services for WHSC1
	Novus Biologicals Protein for WHSC1
	Novus Biologicals Lysate for WHSC1
	Browse Sino Biological Recombinant Proteins
	Browse ProSpec Recombinant Proteins

5 Gene Ontology (GO) cellular component terms (GO ID links to tree view):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005634	nucleus	IDA	18029348
GO:0005694	chromosome	IEA	--
GO:0005730	nucleolus	IDA	18029348
GO:0005737	cytoplasm	IEA	--
GO:0031965	nuclear membrane	IDA	18029348

About this table

WHSC1 for ontologies About GeneDecksing

Antibodies for WHSC1:

	Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
	Sigma-Aldrich Antibodies for WHSC1
	Browse R&D Systems for Antibodies
	Browse OriGene Antibodies
	GenScript Custom Superior Antibodies Services for WHSC1
	Novus Biologicals Antibodies for WHSC1
	Epitomics antibodies for WHSC1

Assays for WHSC1:

	Browse Kits and Assays available from Millipore
	Browse ELISAs at Sigma-Aldrich
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for WHSC1
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for WHSC1

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

WHSC1 for domains About GeneDecksing

5/12 InterPro domains/families (see all 12):

IPR001214 SET_dom

IPR001841 Znf_RING

IPR001965 Znf_PHD

IPR003616 Post-SET_dom

IPR013083 Znf_RING/FYVE/PHD

Graphical View of Domain Structure for InterPro Entry O96028

ProtoNet protein and cluster: O96028

4 Blocks protein families:

IPB000313 PWWP domain

IPB001214 Nuclear protein SET

IPB001841 Zn-finger

IPB003616 SET-related region

UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028

Similarity: Belongs to the histone-lysine methyltransferase family. SET2 subfamily

Similarity: Contains 1 AWS domain

Similarity: Contains 1 HMG box DNA-binding domain

Similarity: Contains 4 PHD-type zinc fingers

Similarity: Contains 1 post-SET domain

Similarity: Contains 2 PWWP domains

Similarity: Contains 1 SET domain

(According to UniProtKB, IUBMB,and/or Genatlas, Animal models from MGI Dec 24 2010,
shRNA from OriGene, Sigma-Aldrich, RNAi from Millipore, siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich, microRNA from Sigma-Aldrich, Qiagen, SABiosciences, Clones from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, Cell Lines from GenScript, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene.)
About This Section

UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028

Function: Probable histone methyltransferase (By similarity). May act as a transcription regulator that binds DNA and

suppresses IL5 transcription

Catalytic activity: S-adenosyl-L-methionine + L-lysine-[histone] = S-adenosyl-L-homocysteine +

N(6)-methyl-L-lysine-[histone]

Enzyme Number (IUBMB): EC 2.1.1.43

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for WHSC1 Sigma-Aldrich shRNA for WHSC1
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 10): WHSC1 OriGene shRNA RFP (see all 10): WHSC1 OriGene basic RS shRNA (see all 10): WHSC1 OriGene siRNA (see all 10): WHSC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of WHSC1

miRNA:		Sigma-Aldrich microRNA Mimics for WHSC1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of WHSC1
		8/19 SABiosciences Assays for microRNAs that regulate WHSC1 (see all 19):
		hsa-miR-188-5p hsa-miR-522 hsa-miR-200a hsa-miR-605 hsa-miR-508-3p hsa-miR-548a-3p hsa-miR-141 hsa-miR-548g

Gene
Editing:

Sigma-Aldrich CompoZr Knockout ZFN for WHSC1

Clones:		Browse Clones for the Expression of Recombinant Proteins Available from Millipore
		Browse iPSC Reprogramming Factors at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): WHSC1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): WHSC1 OriGene untagged cDNA clones in CMV expression vector (see all 6): WHSC1 OriGene 3'-UTR clone (see all 6): WHSC1 Browse MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: WHSC1
		Sino Biological Human cDNA Clone for WHSC1

Cell
Lines:

GenScript Custom overexpressing Cell Line Services for WHSC1

Genatlas biochemistry entry for WHSC1:

Wolf-Hirschhorn syndrome candidate gene 1,ubiquitously expressed and undergoing complex alternative splicing and

differential polyadenylation homolog to Drosophila dysmorphy gene ash,fused to IgH in multiple myeloma with

translocation t(4;14)((p16.3;q32) with FGFR3 overexpression

5/9 Gene Ontology (GO) molecular function terms (GO ID links to tree view) (see all 9):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0003677	DNA binding	IEA	--
GO:0003682	chromatin binding	--	--
GO:0005509	calcium ion binding	--	--
GO:0005515	protein binding	IEA	--
GO:0008168	methyltransferase activity	IEA	--

About this table

WHSC1 for ontologies About GeneDecksing

Animal Models: 7 MGI mutant phenotypes (inferred from 1 allele) (MGI details for Whsc1):

cardiovascular system	craniofacial	digestive/alimentary	embryogenesis	growth/size
lethality-postnatal	skeleton

WHSC1 for phenotypes About GeneDecksing

(Pathways according to Millipore, Cell Signaling Technology, Sigma-Aldrich, KEGG and/or UniProtKB, Sets of similar genes according to GeneDecks, PCR Arrays from SABiosciences, Proteins Network according to SABiosciences, Sigma-Aldrich, Interactions according to ¹UniProtKB, ²MINT, and/or ³STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Dec 2010 via Entrez Gene).
About This Section

WHSC1 for pathways About GeneDecksing

1 Kegg Pathway (Kegg details for WHSC1):

hsa00310 Lysine degradation

SABiosciences Pathway-Focused PCR Array including WHSC1: PAHS-085A

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for WHSC1

1 Interacting protein for WHSC1 (O96028²) via UniProtKB, MINT, and/or STRING

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
AR	P10275²	MINT-7103766 MINT-7103800 MINT-7103785 MINT-7103819 MINT-7103748

About this table

5/8 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 8):

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000122	negative regulation of transcription from RNA polymerase II promoter	--	--
GO:0003149	membranous septum morphogenesis	--	--
GO:0003289	atrial septum primum morphogenesis	--	--
GO:0003290	atrial septum secundum morphogenesis	--	--
GO:0009653	anatomical structure morphogenesis	TAS	9618163

About this table

WHSC1 for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, Sigma-Aldrich, Tocris Bioscience, and/or Novoseek and Drugs according to Enzo Life Sciences and/or PharmGKB)
About This Section

Browse Small Molecules at Sigma-Aldrich

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for WHSC1

(GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 228 Homo sapiens; Dec 8 2010) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
non coding RNAs according to RNAdb,
ESTs according to GeneTide,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from Millipore,
siRNAs from Sigma-Aldrich, OriGene, Qiagen, Super-pooled esiRNAs from Sigma-Aldrich,
shRNA from Sigma-Aldrich, OriGene, microRNA from Sigma-Aldrich, Qiagen, SABiosciences,
Tagged/untagged cDNA clones from OriGene, Sigma-Aldrich, GenScript, Primers from OriGene and/or SABiosciences)
About This Section

Inhib. RNA:		Browse for Gene Knock-down Tools from Millipore
		Browse Nano Scale siRNA at Sigma-Aldrich Sigma-Aldrich siRNA Panels and esiRNA and siRNA for WHSC1 Sigma-Aldrich shRNA for WHSC1
		OriGene 29mer shRNA kits in GFP-retroviral vector (see all 10): WHSC1 OriGene shRNA RFP (see all 10): WHSC1 OriGene basic RS shRNA (see all 10): WHSC1 OriGene siRNA (see all 10): WHSC1
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of WHSC1

miRNA:		Sigma-Aldrich microRNA Mimics for WHSC1 Browse microRNA target validation systems at Sigma-Aldrich
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of WHSC1
		8/19 SABiosciences Assays for microRNAs that regulate WHSC1 (see all 19):
		hsa-miR-188-5p hsa-miR-522 hsa-miR-200a hsa-miR-605 hsa-miR-508-3p hsa-miR-548a-3p hsa-miR-141 hsa-miR-548g

Clones:		Browse FLAG tag genes at Sigma-Aldrich
		OriGene GFP tagged cDNA clones in CMV expression vector (see all 6): WHSC1 OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 6): WHSC1 OriGene untagged cDNA clones in CMV expression vector (see all 6): WHSC1 OriGene 3'-UTR Clone (see all 6): WHSC1 Browse OriGene MicroRNA Expression Plasmids
		GenScript cDNA clone with any tag delivered in your preferred vector: WHSC1

Primers:		OriGene genome-wide validated SYBR primer pairs: WHSC1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for WHSC1: PPH11148A

REFSEQ mRNAs for WHSC1 gene (6 alternative transcripts):

NM_001042424.2 NM_007331.1 NM_133330.2 NM_133331.2 NM_133334.2 NM_133335.3

Additional cDNA sequence:

AB029013.1 AF071593.1 AF071594.1 AF083386.1 AF083387.1 AF083388.1 AF083391.1 AF330040.1

AJ007042.1 AK026939.1 AK289697.1 AY694128.1 BC020545.1 BC032731.2 BC052254.1 BC070176.1

BC094825.1 BC110899.1 BC141815.1 BC144464.1 BC152412.1 BX647495.1 DQ185035.1

24/30 DOTS entries (see all 30):

DT.95348991 DT.92449827 DT.103476 DT.100820941 DT.101982246 DT.100030996 DT.92056183 DT.453320

DT.92449828 DT.101957456 DT.121259750 DT.97802080 DT.40221326 DT.92449822 DT.100670240 DT.91953338

DT.95282891 DT.97851007 DT.121259837 DT.420222 DT.97775610 DT.99963718 DT.100803448 DT.102836921

24/567 AceView cDNA sequences (see all 567):

BQ187109 AA128289 BQ058398 AF083387 AA907647 D58156 AI954919 BF513877

AL079674 BF002205 NM_133335 AI239850 NM_133331 BQ643217 AI278905 H66277

BM693412 CB850697 AW575653 BU622122 AF330040 AI333861 AA641782 AL079673

highest scoring ESTs for WHSC1:

AJ007042 AA046669 AA064614 AA081170 AA081171 AA128489 AA143620 AA159311 AA160764 AA283879

Unigene Cluster for WHSC1:

Wolf-Hirschhorn syndrome candidate 1

Hs.113876 [show with all ESTs]

Unigene Representative Sequence: NM_133334

GeneLoc Exon Structure

5/22 Alternative Splicing Database (ASD) splice patterns (SP) for WHSC1 (see all 22)

ExUns:	1	^	2	^	3	^	4	^	5	^	6	^	7a	·	7b	·	7c	·	7d	^	8a	·	8b	^	9a	·	9b	^	10	^	11a	·	11b	·	11c	^	12	^	13	^	14	^	15a	·	15b	·	15c	^	16a	·	16b	·
SP1:																									-		-								-								-								-
SP2:																									-		-								-								-
SP3:																									-		-								-								-						-		-
SP4:									-																-		-								-								-						-		-
SP5:																																																	-		-

ExUns:	16c	·	16d	^	17a	·	17b	^	18a	·	18b	·	18c	·	18d	·	18e	^	19a	·	19b	^	20a	·	20b	^	21	^	22a	·	22b	^	23a	·	23b	^	24a	·	24b	^	25a	·	25b	^	26	^	27	^	28a	·	28b	^
SP1:	-		-		-				-						-		-		-		-						-						-																-
SP2:	-		-		-				-						-		-		-		-						-						-																-
SP3:	-		-		-				-						-		-		-		-						-						-																-
SP4:	-		-		-				-						-		-		-		-						-						-																-
SP5:	-		-		-				-						-		-		-		-						-						-																-

ExUns:	29a	·	29b	^	30	^	31a	·	31b	·	31c
SP1:			-
SP2:			-
SP3:			-
SP4:			-
SP5:			-

About this scheme

ECgene alternative splicing isoforms for WHSC1
18/29 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 29):

ENST00000512700 ENST00000507820 ENST00000398261 ENST00000382889 ENST00000482415

ENST00000513726 ENST00000503128(uc010icd.1 uc010ice.1 uc003geh.1)

ENST00000505643 ENST00000420906(uc003gdy.1 uc003gea.1) ENST00000353275(uc003geb.3 uc003gee.3)

ENST00000508803 ENST00000511904 ENST00000382891(uc003gdz.3 uc003ged.3 uc003gei.3 uc011bvh.1)

ENST00000382888 ENST00000436793(uc003geg.1) ENST00000515806 ENST00000382892(uc003gec.3)

ENST00000503207

(Experimental results according to ¹GeneNote and GNF BioGPS,
probe sets-to-genes annotations according to ²GeneAnnot , ³GeneTide , Sets of similar genes according to GeneDecks, Electronic Northern calculations according to data from UniGene (Build 228 Homo sapiens), SAGE tags according to CGAP, plus additional links to SOURCE, and/or GNF BioGPS, and/or EXPOLDB, and/or UniProtKB,
Primers from OriGene and/or SABiosciences )
About This Section

WHSC1 expression in normal and diseased human tissues

¹ / ² / ³

20 probe-sets matching WHSC1 gene

Affymetrix probe-set	Array	# genes	Sensitivity	Specificity	Correlation	Length	Gb_Accession	Consensus	Uniqueness	Score	Rank
Affymetrix probe-set	Array	GeneAnnot data			GeneNote data		GeneTide data
38988_at²^{, 3}	U95-A	1	1.00	1.00	0.58	1.13	AJ007042	1.00	0.90	0.95	1
87565_at²^{, 3}	U95-E	1	0.94	1.00	0.40	1.02	N48567	0.80	1.00	0.91	1
65059_at²^{, 3}	U95-C	1	0.50	1.00	0.75	1.03	AI526093	0.80	1.00	0.91	1
60844_at²^{, 3}	U95-C	1	0.50	1.00	0.47	1.13	AW024870	0.80	1.00	0.91	1
89995_at²^{, 3}	U95-E	1	0.44	1.00	0.93	0.65	AI770166	0.80	1.00	0.91	1
58244_at²^{, 3}	U95-B	1	0.38	1.00	0.81	1.32	AI802986	0.80	1.00	0.91	1
88837_at²^{, 3}	U95-D	1	0.38	1.00	0.51	0.98	AA218945	0.40	1.00	0.76	1
43329_at*²^{, 3}	U95-B	6	0.38	0.44	0.33	0.79	R40780	0.80	1.00	0.91	1
209053_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	BE793789	0.80	1.00	0.91	1
209054_s_at²^{, 3}	U133-A	1	1.00	1.00	--	--	AF083389	0.60	0.83	0.73	1
209052_s_at²^{, 3}	U133-A	2	1.00	0.95	--	--	BF111870	0.80	1.00	0.91	1
222778_s_at²^{, 3}	U133-B	1	0.82	1.00	--	--	AW024870	0.80	1.00	0.91	1
222777_s_at²^{, 3}	U133-B	1	0.64	1.00	--	--	AI770166	0.80	1.00	0.91	1
223472_at²^{, 3}	U133-B	1	0.55	1.00	--	--	AF071594	0.60	1.00	0.82	1
209053_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209054_s_at²	U133Plus2	1	1.00	1.00	--	--	--	--	--	--	--
209052_s_at²	U133Plus2	2	1.00	0.95	--	--	--	--	--	--	--
222778_s_at²	U133Plus2	1	0.82	1.00	--	--	--	--	--	--	--
222777_s_at²	U133Plus2	1	0.64	1.00	--	--	--	--	--	--	--
223472_at²	U133Plus2	1	0.55	1.00	--	--	--	--	--	--	--

About this table

WHSC1 for expression About GeneDecksing

Data from Genenote (Publications) and GNF BioGPS
About these images

WHSC1 gene electronic northern expression

About these images

CGAP SAGE TAG: GCTGGCTGGG

SOURCE GeneReport for Unigene cluster: Hs.113876

Expression variation in blood from EXPOLDB for WHSC1

UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028

Tissue specificity: Widely expressed

Primers:		OriGene genome-wide validated SYBR primer pairs: WHSC1 Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT² qPCR Primer Assay for WHSC1: PPH11148A

SABiosciences Expression via Pathway-Focused PCR Array including WHSC1: PAHS-085A

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD and/or ⁵MGI Dec 24 2010, with possible further links to Flybase and/or WormBase, Gene Trees according to Ensembl)
About This Section

Orthologs for WHSC1 gene from 5/10 species (see all 10)

Organism	Gene	Locus	Description	Human Similarity	NCBI accessions
dog (Canis familiaris)	WHSC1¹	--	Wolf-Hirschhorn syndrome candidate 1	88.76(n) 92.17(a)	479077 XM_536224.2 XP_536224.2
chimpanzee (Pan troglodytes)	WHSC1¹	--	Wolf-Hirschhorn syndrome candidate 1	99.68(n) 99.85(a)	461070 XM_517068.2 XP_517068.2
cow (Bos taurus)	WHSC1¹	--	Wolf-Hirschhorn syndrome candidate 1	82.86(n) 86.45(a)	540769 XM_613048.3 XP_613048.2
rat (Rattus norvegicus)	Whsc1¹	--	Wolf-Hirschhorn syndrome candidate 1 (human)	86.59(n) 90.11(a)	680537 XM_001058413.1 XP_001058413.1
mouse (Mus musculus)	Whsc1^{1 , 5}	5 (17.83 cM)⁵	Wolf-Hirschhorn syndrome candidate 1 (human)^{1, 5}	87.11(n)¹ 91.08(a)¹	107823¹ NM_001081102.1¹ NP_001074571.1¹ AA856145⁵ AI429192⁵ (see all 38)

About this table Species with no ortholog for WHSC1

ENSEMBL Gene Tree for WHSC1 (if available)

(Paralogs according to ¹HomoloGene
and ²Ensembl, Pseudogenes according to ³Pseudogene.org)
About This Section

Paralogs for WHSC1 gene

NSD1² SETD2² ASH1L² WHSC1L1²

WHSC1 for paralogs About GeneDecksing

(SNPs according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, and UniProtKB, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Resequencing Primers from Qiagen)
About This Section

SNP ID	Valid	Chr 4 pos	Sequence	Recs	AA Chg	Type	More	Recs	Allele freq	Pop	Total sample	More
Genomic Data				Transcription Related Data				Allele Frequencies
			--	--	--		--	--
rs9679^1,2	--	1945012(-)	`TAAAAA/CACAGC`	5	--	int¹ ut3¹		0	--	--	--	--
rs14647^1,2	F	1983835(-)	`CCCAAC/ATGGCA`	4	--	ut3¹		1		MN	184
rs373763^1,2	--	1919506(-)	`aaaaaA/GgaaTA`	6	--	int¹ trp³		0	--	--	--	--
rs410630^1,2	C,	1927501(-)	`aaaaaT/Aatata`	6	--	int¹		3		NA	6
rs426891^1,2	F,	1932943(-)	`AAGGTG/ACAGAC`	6	--	int¹		1		MN	184
rs465686^1,2	--	1935412(-)	`cgggcC/Gcggtg`	6	--	int¹		0	--	--	--	--
rs471686^1,2	--	1960888(+)	`CTTTTC/TTCTCT`	4	--	int¹		1		MN	184
rs474235^1,2	C,F,A,H,	1961137(-)	`TTGCAT/CACCCA`	4	--	int¹		16		NS EA NA WA	940
rs478530^1,2	--	1974219(-)	`CCCAGG/AACACG`	4	--	int¹		1		MN	184
rs479534^1,2	C	1974073(-)	`CTTGCA/GCTGGG`	4	--	int¹		5		MN NS EA	590

About this table

HapMap Linkage Disequilibrium images for WHSC1 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for WHSC1
1 CNV: 68618
1 Indel: 59155

QIAGEN SeqTarget long-range PCR primers for resequencing WHSC1

(in which this Gene is Involved, According to OMIM, UniProtKB, Novoseek, PharmGKB, Genatlas, GeneTests, Blood group antigen gene mutations by BGMUT, LSDB, HGMD, GAD, HuGE Navigator, and/or TGDB.)
About This Section

WHSC1 for disorders About GeneDecksing

OMIM: 602952

UniProtKB/Swiss-Prot: NSD2_HUMAN, O96028

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

3 Novoseek disease relationships for WHSC1 gene

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
myeloma	66.9	7	15355895 (2), 9787135 (1), 18172012 (1), 14633785 (1) (see all 5)
tumors	19.2	20	19121287 (6), 18381641 (1), 16155016 (1), 11418483 (1) (see all 7)
cancer	0	10	19121287 (5)

About this table

Human Gene Mutation Database (HGMD): WHSC1
Human Genome Epidemiology (HuGE) Navigator: WHSC1 (1 document)

Export disorders and mutations for WHSC1 gene to outside databases

(Possibly Related Articles in Doctor's Guide)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶UniProtKB/TrEMBL, and/or ⁷Novoseek)
About This Section

10/60 PubMed articles for WHSC1 gene, integrated from 7 sources (see all 60):
(articles sorted by number of sources associating them with WHSC1)

The t(4;14) translocation in myeloma dysregulates both FGFR3 and a novel gene, MMSET, resulting in IgH/MMSET hybrid transcripts. (PubMed id 9787135)^{1, 2, 3, 7} Chesi M....Bergsagel P.L. (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. (PubMed id 9618163)^{1, 2, 3, 7} Stec I.... den Dunnen J.T. (1998)
A unique mRNA initiated within a middle intron of WHSC1/MMSET encodes a DNA binding protein that suppresses human IL-5 transcription. (PubMed id 11152655)^{1, 2, 7} Garlisi C.G.... Umland S.P. (2001)
The etiology of Wolf-Hirschhorn syndrome. (PubMed id 15734578)^{1, 2, 7} Bergemann A.D.... Hirschhorn K. (2005)
Transcription repression activity is associated with the type I isoform of the MMSET gene involved in t(4;14) in multiple myeloma. (PubMed id 16197452)^{1, 2, 7} Todoerti K.... Neri A. (2005)
Overexpression of transcripts originating from the MMSET locus characterizes all t(4;14)(p16;q32)-positive multiple myeloma patients. (PubMed id 15677557)^{1, 2, 7} Keats J.J....Pilarski L.M. (2005)
A subset of multiple myeloma harboring the t(4;14)(p16;q32) translocation lacks FGFR3 expression but maintains an IGH/MMSET fusion transcript. (PubMed id 12433679)^{1, 2, 7} Santra M.... Shaughnessy J. Jr. (2003)
Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
Identification of ID-1 as a potential target gene of MMSET in multiple myeloma. (PubMed id 16115125)^{1, 2} Hudlebusch H.R....Rasmussen T. (2005)
Identification of a novel IGH-MMSET fusion transcript in a human myeloma cell line with the t(4;14)(p16.3;q32) chromosomal translocation. (PubMed id 15257719)^{1, 2} Intini D.... Neri A. (2004)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 7468	HGNC: 12766	AceView: WHSC1	Ensembl:ENSG00000109685	euGenes: HUgn7468
ECgene: WHSC1	Kegg: 7468	H-InvDB: WHSC1

(According to HUGE)
About This Section

HUGE: KIAA1090

(According to ATLAS, HORDE, IMGT, MTDB, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
ATLAS Chromosomes in Cancer entry for WHSC1	Genetics and Cytogenetics in Oncology and Haematology

Intellectual Property for WHSC1 gene
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Patent Information for WHSC1 gene:
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GeneCards and IP:
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WHSC1 Gene

protein-coding GIFtS: 64

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WHSC1 (Gene Symbol)
Wolf-Hirschhorn syndrome candidate 1
NSD2
MMSET
Protein trithorax-5
Nuclear SET domain-containing protein 2
Wolf-Hirschhorn syndrome candidate 1 protein
Multiple myeloma SET domain-containing protein
TRX5
KIAA1090
REIIBP
probable histone-lysine N-methyltransferase NSD2
MGC176638
WHS
IL5 promoter REII region-binding protein
OTTHUMP00000220798
FLJ23286
OTTHUMP00000159146
trithorax/ash1-related protein 5
OTTHUMP00000220795
OTTHUMP00000196943
multiple myeloma SET domain containing protein type III
EC 2.1.1.43

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WHSC1 Gene

protein-coding GIFtS: 64

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