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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CBX4 Gene

protein-coding   GIFtS: 59
GCID: GC17M077806

Chromobox Homolog 4

(Previous name: chromobox homolog 4 (Drosophila Pc class))
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
Chromobox Homolog 41 2     PC22
NS5ATP1-Binding Protein 161 2     Chromobox Homolog 4 (Pc Class Homolog, Drosophila)2
Chromobox Protein Homolog 42 3     E3 SUMO-Protein Ligase CBX42
Polycomb 2 Homolog2 3     Pc Class 2 Homolog2
Chromobox Homolog 4 (Drosophila Pc Class)1     EC 6.3.2.-3
Pc Class 2 Homolog (Drosophila)1     Pc23
NBP162     hPc23

External Ids:    HGNC: 15541   Entrez Gene: 85352   Ensembl: ENSG000001415827   OMIM: 6030795   UniProtKB: O002573   

Export aliases for CBX4 gene to outside databases

Previous GC identifers: GC17M077736 GC17M081095 GC17M078371 GC17M078507 GC17M075422 GC17M073247


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

GeneCards Summary for CBX4 Gene: 
CBX4 (chromobox homolog 4) is a protein-coding gene. Diseases associated with CBX4 include schizophrenia, and hodgkin's lymphoma, and among its related super-pathways are DNA damage Role of SUMO in p53 regulation. GO annotations related to this gene include chromatin binding and transcription corepressor activity. An important paralog of this gene is CBX8.

UniProtKB/Swiss-Prot: CBX4_HUMAN, O00257
Function: E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I. Involved in the sumoylation of
HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation
resulting in p21/CDKN1A expression. Monosumoylates ZNF131
Function: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain
the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1
complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A
'Lys-119', rendering chromatin heritably changed in its expressibility




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  NC_018928.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the CBX4 gene promoter:
         E2F-3a   E2F-4   E2F-5   Pax-5   E2F-2   HEN1   E2F   E2F-1   IRF-7A   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): CBX4 promoter sequence
   Search SABiosciences Chromatin IP Primers for CBX4

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CBX4


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

Entrez Gene cytogenetic band: 17q25.3   Ensembl cytogenetic band:  17q25.3   HGNC cytogenetic band: 17q25.3

CBX4 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBX4 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17M077806:  view genomic region     (about GC identifiers)

Start:
77,806,955 bp from pter      End:
77,813,228 bp from pter
Size:
6,274 bases      Orientation:
minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: CBX4_HUMAN, O00257 (See protein sequence)
Recommended Name: E3 SUMO-protein ligase CBX4  
Size: 560 amino acids; 61368 Da
Subunit: Interacts with histone H3-K9Me3. Interacts with CHTOP (By similarity). Component of a PRC1-like complex.
Self-associates. Interacts with SUV39H1 and HIPK2. Interacts with CSNK2B
Subcellular location: Nucleus. Nucleus speckle. Note=Localization to nuclear polycomb bodies is required for
ZNF131 sumoylation
Miscellaneous: The human orthologs of the Drosophila Polycomb group protein Pc are CBX2, CBX4, CBX6, CBX7 and
CBX8. These show distinct nuclear localizations, contribute differently to transcriptional repression, and appear
to be part of distinct PRC1-like protein complexes. The hPRC-H complex purified in PubMed:12167701 probably
presents a mixture of different complexes containing different Polycomb group proteins
Sequence caution: Sequence=AAH14967.1; Type=Miscellaneous discrepancy; Note=Aberrant splicing;
2 PDB 3D structures from and Proteopedia for CBX4:
2K28 (3D)        3I8Z (3D)    
Secondary accessions: B1PJR7 Q6TPI8 Q96C04
Alternative splicing: 2 isoforms:  O00257-1   O00257-3   

Explore the universe of human proteins at neXtProt for CBX4: NX_O00257

Explore proteomics data for CBX4 at MOPED 

Post-translational modifications:

  • UniProtKB: Phosphorylated on Thr-497 by HIPK2 upon DNA damage. This phosphorylation stimulates E3 SUMO-protein ligase
    activity and promotes sumoylation on Lys-494, as well as sumoylation of other target proteins, such as HNRNPK
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O00257

  • CBX4 Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    CBX4 Protein Expression
    REFSEQ proteins: NP_003646.2  
    ENSEMBL proteins: 
     ENSP00000269397   ENSP00000415348   ENSP00000461198  

    Human Recombinant Protein Products for CBX4: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for CBX4
    Browse OriGene Protein Over-expression Lysates
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for CBX4
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    Novus Biologicals CBX4 Protein
    Novus Biologicals CBX4 Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CBX4 

    Gene Ontology (GO): 5/8 cellular component terms (GO ID links to tree view) (see all 8):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005634nucleus IDA--
    GO:0005730NOT nucleolus IDA--
    GO:0005737cytoplasm IDA--
    GO:0005794Golgi apparatus IDA--
    GO:0016604nuclear body ----

    CBX4 for ontologies           About GeneDecksing



    CBX4 Antibody Products: 
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    Assay Products for CBX4: 
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    GenScript Custom Assay Services for CBX4
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CBX4 
    Cloud-Clone Corp. CLIAs for CBX4


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    5 InterPro protein domains:
     IPR000953 Chromo_domain/shadow
     IPR023780 Chromo_domain
     IPR016197 Chromodomain-like
     IPR023779 Chromodomain_CS
     IPR017984 Chromo_dom_subgr

    Graphical View of Domain Structure for InterPro Entry O00257

    ProtoNet protein and cluster: O00257

    1 Blocks protein domain: IPB000953 Chromo domain

    UniProtKB/Swiss-Prot: CBX4_HUMAN, O00257
    Domain: The polyhistidine repeat may act as a targeting signal to nuclear speckles (PubMed:19266028)
    Similarity: Contains 1 chromo domain


    CBX4 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBX4_HUMAN, O00257
    Function: E3 SUMO-protein ligase which facilitates SUMO1 conjugation by UBE2I. Involved in the sumoylation of
    HNRNPK, a p53/TP53 transcriptional coactivator, hence indirectly regulates p53/TP53 transcriptional activation
    resulting in p21/CDKN1A expression. Monosumoylates ZNF131
    Function: Component of a Polycomb group (PcG) multiprotein PRC1-like complex, a complex class required to maintain
    the transcriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1
    complex acts via chromatin remodeling and modification of histones; it mediates monoubiquitination of histone H2A
    'Lys-119', rendering chromatin heritably changed in its expressibility

         Enzyme Number (IUBMB): EC 6.3.2.-1

         Gene Ontology (GO): 5/10 molecular function terms (GO ID links to tree view) (see all 10):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003682chromatin binding IEA--
    GO:0003714transcription corepressor activity TAS9315667
    GO:0003727single-stranded RNA binding IEA--
    GO:0005515protein binding IPI17332741
    GO:0016874ligase activity IEA--
         
    CBX4 for ontologies           About GeneDecksing


    Phenotypes:
         4 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cbx4):
     cellular  hematopoietic system  immune system  mortality/aging 

    CBX4 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-out Cbx4tm1.2Gxu for CBX4

       inGenious Targeting Laboratory - Custom generated mouse model solutions for CBX4 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for CBX4

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CBX4 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CBX4 

    miRNA
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate CBX4 (see all 49):
    hsa-miR-21* hsa-miR-136 hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-let-7a-2* hsa-miR-628-3p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidCBX4 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Gene Editing
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    Clone
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    OriGene clones in human, mouse for CBX4 (see all 6)
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                         Customized lentivirus expression plasmids for stable overexpression of CBX4 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBX4


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for CBX4 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1DNA damage Role of SUMO in p53 regulation
    Proteolysis Putative SUMO-1 pathway0.33
    2C-MYB transcription factor network
    C-MYB transcription factor network
    3Regulation of retinoblastoma protein
    Regulation of retinoblastoma protein

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for CBX4
        Proteolysis Putative SUMO-1 pathway


    1 GeneGo (Thomson Reuters) Pathway for CBX4
        Proteolysis Putative SUMO-1 pathway

    2 BioSystems Pathways for CBX4
        C-MYB transcription factor network
    Regulation of retinoblastoma protein



    UniProtKB/Swiss-Prot: CBX4_HUMAN, O00257
    Pathway: Protein modification; protein sumoylation


    CBX4 for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CBX4

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/132 Interacting proteins for CBX4 (O002571, 2, 3 ENSP000002693974) via UniProtKB, MINT, STRING, and/or I2D (see all 132)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    RNF2Q994961, 2, 3, ENSP000003564804EBI-4392727,EBI-722416 MINT-8010325 MINT-8010390 I2D: score=9 STRING: ENSP00000356480
    BMI1P352261, 2, 3, ENSP000003658514EBI-4392727,EBI-2341576 MINT-8010325 MINT-4543631 I2D: score=2 STRING: ENSP00000365851
    ENSG00000235107Q065872, 3, ENSP000003964394MINT-8010325 MINT-8010390 I2D: score=3 STRING: ENSP00000396439
    ENSG00000206287Q065872, 3MINT-8010325 MINT-8010390 I2D: score=3 
    ENSG00000226788Q065872, 3MINT-8010325 MINT-8010390 I2D: score=3 
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000122negative regulation of transcription from RNA polymerase II promoter IMP--
    GO:0006351transcription, DNA-dependent IEA--
    GO:0016568chromatin modification IEA--
    GO:0016925protein sumoylation IEA--
    GO:0043066negative regulation of apoptotic process TAS9315667

    CBX4 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CBX4 for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for CBX4

    1 Novoseek inferred chemical compound relationship for CBX4 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    glutamine 23.8 2 11414760 (1), 12497610 (1)

    Search CenterWatch for drugs/clinical trials and news about CBX4

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for CBX4 gene: 
    NM_003655.2  

    Unigene Cluster for CBX4:

    Chromobox homolog 4
    Hs.405046  [show with all ESTs]
    Unigene Representative Sequence: NM_003655
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000269397(uc002jxe.3) ENST00000448310 ENST00000495122 ENST00000494546

    miRNA
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    8/49 QIAGEN miScript miRNA Assays for microRNAs that regulate CBX4 (see all 49):
    hsa-miR-21* hsa-miR-136 hsa-miR-429 hsa-miR-15a hsa-miR-503 hsa-let-7a-2* hsa-miR-628-3p hsa-miR-374a
    SwitchGear 3'UTR luciferase reporter plasmidCBX4 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AF013956.1 AY390430.1 BC014967.1 EU439707.1 U94344.1 

    3 DOTS entries:

    DT.95369650  DT.207354  DT.91733994 

    24/56 AceView cDNA sequences (see all 56):

    D20381 BC014967 BM452847 AI076023 BX436959 AY390430 AI351619 BX280228 
    CR616461 AI148768 BQ219412 BM475166 BQ225831 BG222508 BE621004 AI796748 
    AI401035 BI836958 BU188400 BG029608 BF221869 BQ639572 BX415851 BM451430 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for CBX4    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5a · 5b · 5c · 5d
    SP1:                          -                 -                     
    SP2:                          -     -           -                     
    SP3:                                                                  
    SP4:                          -                                       


    ECgene alternative splicing isoforms for CBX4

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CBX4 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GATGTCTTGT
    CBX4 Expression
    About this image


    See CBX4 Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CBX4

    SOURCE GeneReport for Unigene cluster: Hs.405046

    UniProtKB/Swiss-Prot: CBX4_HUMAN, O00257
    Tissue specificity: Ubiquitous

        SABiosciences Expression via Pathway-Focused PCR Arrays including CBX4: 
              Polycomb & Trithorax Complexes in human mouse rat
              Apoptosis 384HT in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CBX4

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of animals.

    Orthologs for CBX4 gene from 6/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cbx41 , 5 chromobox homolog 4 (Drosophila Pc class)5
    chromobox 41
    86.28(n)1
    91.07(a)1
      11 (83.34 cM)5
    124181  NM_007625.21  NP_031651.21 
     1190775735 
    chicken
    (Gallus gallus)
    Aves CBX41 chromobox homolog 4 76.33(n)
    72.4(a)
      395354  NM_204642.1  NP_989973.1 
    lizard
    (Anolis carolinensis)
    Reptilia CBX46
    Uncharacterized protein
    55(a)
    1 ↔ 1
    2(100834406-100843377)
    African clawed frog
    (Xenopus laevis)
    Amphibia cbx4-A-prov2 chromobox homolog 4 (Polycomb) 76.52(n)    U39929.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.209702 Danio rerio polycomb 2 mRNA, complete cds 79.81(n)    AY186581.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pc6
    Polycomb
    18(a)
    1 → many
    3L(21299238-21311120)


    ENSEMBL Gene Tree for CBX4 (if available)
    TreeFam Gene Tree for CBX4 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for CBX4 gene
    CBX82  CBX62  CBX22  CBX72  
    6 SIMAP similar genes for CBX4 using alignment to 3 protein entries:     CBX4_HUMAN (see all proteins):
    CBX7    CBX8    CBX3    CBX5    CBX1    SUV39H2

    CBX4 for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/184 SNPs in CBX4 are shown (see all 184)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1872616451,2
    --77806650(+) CCCCAA/CCCGCG 1 -- ds50010--------
    rs129489071,2
    C--77806674(+) CACCCC/TTGCAC 1 -- ds50011Minor allele frequency- T:0.00NA 2
    rs1921344101,2
    --77806865(+) CAAAAA/CCAGCC 1 -- ds50010--------
    rs581745571,2
    F--77806954(+) CGAAAA/CTGCAC 1 -- ds50011Minor allele frequency- C:0.02WA 118
    rs1838131101,2
    --77806965(+) CTTCAA/GCATCT 1 -- ut310--------
    rs113502251,2
    C,F--77807074(+) CAAACT/-TTTTT 1 -- ut312Minor allele frequency- -:0.50NA 4
    rs1887391761,2
    --77807124(+) GTACAA/GTATCA 1 -- ut310--------
    rs1808346501,2
    --77807555(+) GCACCG/TCGTGG 1 -- ut310--------
    rs2002383471,2
    --77807716(+) CCCCGC/TCCCCC 1 -- ut310--------
    rs1447573741,2
    C--77807720(+) GCCCCC/GCCGCG 1 -- ut310--------

    HapMap Linkage Disequilibrium report for CBX4 (77806955 - 77813228 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 9 variations for CBX4:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv828116CNV Loss20364138
    nsv469865CNV Loss16826518
    nsv483050CNV Loss15286789
    nsv908960CNV Loss21882294
    dgv3292n71CNV Loss21882294
    nsv908961CNV Loss21882294
    dgv3294n71CNV Loss21882294
    nsv828120CNV Gain20364138
    dgv538n67CNV Gain20364138


    Human Gene Mutation Database (HGMD): CBX4
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing CBX4
    DNA2.0 Custom Variant and Variant Library Synthesis for CBX4

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 603079    OMIM disorders: --

    5 diseases for CBX4:    About MalaCards
    schizophrenia    hodgkin's lymphoma    retinoblastoma    prostate cancer
    prostatitis


    CBX4 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CBX4 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 12527301 (1)

    Genetic Association Database (GAD): CBX4

    Export disorders for CBX4 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for CBX4 gene, integrated from 9 sources (see all 78):
    (articles sorted by number of sources associating them with CBX4)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Interference with the expression of a novel human polycomb protein, hPc2, results in cellular transformation and apoptosis. (PubMed id 9315667)1, 2, 3 Satijn D.P.E.... Otte A.P. (1997)
    2. Multiple activities contribute to Pc2 E3 function. (PubMed id 15592428)1, 2, 9 Kagey M.H.... Wotton D. (2005)
    3. The polycomb protein Pc2 is a SUMO E3. (PubMed id 12679040)1, 2, 9 Kagey M.H.... Wotton D. (2003)
    4. Pc2-mediated sumoylation of Smad-interacting protein 1 attenuates transcriptional repression of E-cadherin. (PubMed id 16061479)1, 2, 9 Long J.... Park M. (2005)
    5. Small ubiquitin-like modifier (SUMO) modification of z inc finger protein 131 potentiates its negative effect on estrogen signaling. (PubMed id 22467880)1, 2 Oh Y. and Chung K.C. (2012)
    6. DNA damage-induced heterogeneous nuclear ribonucleoprotein K SUMOylation regulates p53 transcriptional activation. (PubMed id 22825850)1, 2 Pelisch F.... Srebrow A. (2012)
    7. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells. (PubMed id 21282530)1, 2 Vandamme J.... Angrand P.O. (2011)
    8. Several distinct polycomb complexes regulate and co-l ocalize on the INK4a tumor suppressor locus. (PubMed id 19636380)1, 2 Maertens G.N....Peters G. (2009)
    9. Phosphorylation-dependent control of Pc2 SUMO E3 ligase activity by its substrate protein HIPK2. (PubMed id 17018294)1, 2 Roscic A.... Schmitz M.L. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    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: 8535 HGNC: 1554 AceView: CBX4 Ensembl:ENSG00000141582 euGenes: HUgn8535
    ECgene: CBX4 H-InvDB: CBX4

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CBX4 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for CBX4 gene:
    Search GeneIP for patents involving CBX4

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



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    About This Section

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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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