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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 IDQualified GO termEvidencePubMed IDs
    GO:0005634 nucleus IDA18029348
    GO:0005694 chromosome IEA--
    GO:0005730 nucleolus IDA18029348
    GO:0005737 cytoplasm IEA--
    GO:0031965 nuclear membrane IDA18029348
    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 IDQualified GO termEvidencePubMed 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 systemcraniofacialdigestive/alimentaryembryogenesisgrowth/size
    lethality-postnatalskeleton

    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 CentralTM Interacting Genes and Proteins Network for WHSC1

    1 Interacting protein for WHSC1 (O960282) via UniProtKB, MINT, and/or STRING
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ARP102752MINT-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 IDQualified GO termEvidencePubMed 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 TAS9618163
    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  GeneAnnot data GeneNote data GeneTide data
    # genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
    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 expression
    WHSC1 gene electronic northern expression
    WHSC1 gene sage 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)
    Whsc11 , 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

    10/783 NCBI SNPs in WHSC1 are shown (see all 783)
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidChr 4 posSequenceRecsAA
    Chg
    TypeMoreRecsAllele
    freq
    PopTotal
    sample
    More
    ----------
    rs96791,2
    --1945012(-) TAAAAA/CACAGC 5 -- int1 ut310--------
    rs146471,2
    F1983835(-) CCCAAC/ATGGCA 4 -- ut311Minor allele frequency- A:0.01MN 184
    rs3737631,2
    --1919506(-) aaaaaA/GgaaTA 6 -- int1 trp30--------
    rs4106301,2
    C,1927501(-) aaaaaT/Aatata 6 -- int13Minor allele frequency- A:0.00NA 6
    rs4268911,2
    F,1932943(-) AAGGTG/ACAGAC 6 -- int11Minor allele frequency- A:0.20MN 184
    rs4656861,2
    --1935412(-) cgggcC/Gcggtg 6 -- int10--------
    rs4716861,2
    --1960888(+) CTTTTC/TTCTCT 4 -- int11Minor allele frequency- T:0.00MN 184
    rs4742351,2
    C,F,A,H,1961137(-) TTGCAT/CACCCA 4 -- int116Minor allele frequency- C:0.28NS EA NA WA 940
    rs4785301,2
    --1974219(-) CCCAGG/AACACG 4 -- int11Minor allele frequency- A:0.00MN 184
    rs4795341,2
    C1974073(-) CTTGCA/GCTGGG 4 -- int15Minor allele frequency- G:0.00MN 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)
    1. 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)
    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. (PubMed id 9618163)1, 2, 3, 7 Stec I.... den Dunnen J.T. (1998)
    3. 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)
    4. The etiology of Wolf-Hirschhorn syndrome. (PubMed id 15734578)1, 2, 7 Bergemann A.D.... Hirschhorn K. (2005)
    5. 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)
    6. 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)
    7. 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)
    8. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. 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)
    10. 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)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
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    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)
    About This Section
    NameDescription
    ATLAS Chromosomes in Cancer entry for WHSC1 Genetics and Cytogenetics in Oncology and Haematology

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    Patent Information for WHSC1 gene:
    Search GeneIP for patents involving WHSC1

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
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