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CBX2 Gene

protein-coding   GIFtS: 59
GCID: GC17P077751

Chromobox Homolog 2

(Previous names: chromobox homolog 2 (Drosophila Pc class), cell division...)
(Previous symbol: CDCA6)
  See CBX2-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)
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Aliases
Chromobox Homolog 21 2     Pc Class Homolog (Drosophila)1
CDCA61 2     Chromobox Homolog 2 (Pc Class Homolog, Drosophila)2
Cell Division Cycle Associated 61 2     Chromobox Protein Homolog 22
M332 5     Modifier 32
SRXY52 5     Pc Class Homolog2
Chromobox Homolog 2 (Drosophila Pc Class)1     

External Ids:    HGNC: 15521   Entrez Gene: 847332   Ensembl: ENSG000001738947   OMIM: 6027705   UniProtKB: Q147813   

Export aliases for CBX2 gene to outside databases

Previous GC identifers: GC17U990011 GC17M081046 GC17P078322 GC17P078458 GC17P075373 GC17P073192


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CBX2 Gene:
This gene encodes a component of the polycomb multiprotein complex, which is required to maintain the
transcriptionally repressive state of many genes throughout development via chromatin remodeling and modification
of histones. Disruption of this gene in mice results in male-to-female gonadal sex reversal. Mutations in this
gene are also associated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding
different isoforms have been noted for this gene.(provided by RefSeq, Mar 2010)

GeneCards Summary for CBX2 Gene:
CBX2 (chromobox homolog 2) is a protein-coding gene. Diseases associated with CBX2 include 46xy sex reversal 5, and gonadal dysgenesis. GO annotations related to this gene include chromatin binding and methylated histone residue binding. An important paralog of this gene is CBX8.

UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781
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. Involved in sexual development, acting as
activator of NR5A1 expression

Gene Wiki entry for CBX2 Gene


(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CBX2 gene promoter:
         CREB   deltaCREB   NF-kappaB   NF-kappaB1   YY1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCBX2 promoter sequence
   Search Chromatin IP Primers for CBX2

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CBX2


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

CBX2 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CBX2 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P077751:  view genomic region     (about GC identifiers)

Start:
77,751,931 bp from pter      End:
77,761,782 bp from pter
Size:
9,852 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781 (See protein sequence)
Recommended Name: Chromobox protein homolog 2  
Size: 532 amino acids; 56081 Da
Subunit: Component of a PRC1-like complex
Miscellaneous: The human orthologuous proteins of Drosphila Polycomb group protein Pc, CBX2, CBX4, CBX6, CBX7 and
CBX8, show distinct nulear localizations, contribute differently to transcriptional repression, and appear to be
part of distinct PRC1-like protein complexes. The hPRC-H complex purification reported by PubMed:12167701
probably presents a mixture of different complexes
2 PDB 3D structures from and Proteopedia for CBX2:
2D9U (3D)        3H91 (3D)    
Secondary accessions: Q0VDA5 Q9BTB1
Alternative splicing: 2 isoforms:  Q14781-1   Q14781-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for CBX2: NX_Q14781

Explore proteomics data for CBX2 at MOPED

Post-translational modifications: 

  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See CBX2 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_005180.1  NP_116036.1  

    ENSEMBL proteins: 
     ENSP00000308750   ENSP00000269399  
    Reactome Protein details: Q14781

    CBX2 Human Recombinant Protein Products:

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    Cloud-Clone Corp. Proteins for CBX2

     
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    antibodies-online proteins for CBX2 (6 products) 

     
    antibodies-online peptides for CBX2

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    5 InterPro protein domains:
     IPR017956 AT_hook_DNA-bd_motif
     IPR000953 Chromo_domain/shadow
     IPR023780 Chromo_domain
     IPR016197 Chromodomain-like
     IPR023779 Chromodomain_CS

    Graphical View of Domain Structure for InterPro Entry Q14781

    ProtoNet protein and cluster: Q14781

    1 Blocks protein domain: IPB000953 Chromo domain

    UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781
    Similarity: Contains 1 A.T hook DNA-binding domain
    Similarity: Contains 1 chromo domain


    Find genes that share domains with CBX2           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CBX2_HUMAN, Q14781
    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. Involved in sexual development, acting as
    activator of NR5A1 expression

         Genatlas biochemistry entry for CBX2:
    Drosophila polycomb-like (PcG) chromobox homolog 2,involved in the compaction of chromatin

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003677DNA binding IEA--
    GO:0003682chromatin binding IEA--
    GO:0005515protein binding IPI16189514
    GO:0035064methylated histone residue binding IEA--
         
    Find genes that share ontologies with CBX2           About GenesLikeMe


    Phenotypes:
         10 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cbx2):
     cellular  craniofacial  digestive/alimentary  endocrine/exocrine gland  growth/size/body 
     hematopoietic system  immune system  mortality/aging  reproductive system  skeleton 

    Find genes that share phenotypes with CBX2           About GenesLikeMe

    Animal Models:
         MGI mouse knock-outs for CBX2: Cbx2tm1Ykf Cbx2tm1Cim

       genOway: Develop your customized and physiologically relevant rodent model for CBX2

    miRNA
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    miRTarBase miRNAs that target CBX2:
    hsa-mir-92a-3p (MIRT049303), hsa-mir-222-3p (MIRT046777), hsa-mir-186-5p (MIRT045012), hsa-mir-1 (MIRT024030), hsa-mir-124-3p (MIRT023121)

    Block miRNA regulation of human, mouse, rat CBX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CBX2 (see all 43):
    hsa-miR-596 hsa-miR-1321 hsa-let-7d hsa-miR-15a hsa-miR-503 hsa-miR-29a hsa-miR-30d hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidCBX2 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for CBX2 

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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CBX2_HUMAN, Q14781: Nucleus
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    nucleus5

    Gene Ontology (GO): Selected cellular component terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000792heterochromatin IEA--
    GO:0005634nucleus IDA--
    GO:0005654nucleoplasm TAS--
    GO:0005730NOT nucleolus IDA--
    GO:0031519PcG protein complex IDA--

    Find genes that share ontologies with CBX2           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to 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 QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for CBX2 About    
    See pathways by source

    SuperPathContained pathways About
    1Cellular Senescence
    Cellular Senescence0.81
    Oxidative Stress Induced Senescence0.64
    Cellular responses to stress0.81


    Find genes that share SuperPaths with CBX2           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Reactome Pathway for CBX2
        Oxidative Stress Induced Senescence


        Pathway & Disease-focused RT2 Profiler PCR Arrays including CBX2: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for CBX2

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

    Selected Interacting proteins for CBX2 (Q147811, 2, 3 ENSP000003087504) via UniProtKB, MINT, STRING, and/or I2D (see all 108)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    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 
    ENSG00000228520Q065872, 3MINT-8010325 MINT-8010390 I2D: score=3 
    ENSG00000231115Q065872, 3MINT-8010325 MINT-8010390 I2D: score=3 
    About this table

    Gene Ontology (GO): Selected biological process terms (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-templated IEA--
    GO:0016568chromatin modification IEA--
    GO:0030154cell differentiation IEA--
    GO:0045137development of primary sexual characteristics IMP19361780

    Find genes that share ontologies with CBX2           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CBX2



    (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,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CBX2 gene (2 alternative transcripts): 
    NM_005189.2  NM_032647.3  

    Unigene Cluster for CBX2:

    Chromobox homolog 2
    Hs.368410  [show with all ESTs]
    Unigene Representative Sequence: NM_005189
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000310942(uc002jxc.3) ENST00000571484 ENST00000269399(uc002jxb.2)

    miRNA
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    Block miRNA regulation of human, mouse, rat CBX2 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CBX2 (see all 43):
    hsa-miR-596 hsa-miR-1321 hsa-let-7d hsa-miR-15a hsa-miR-503 hsa-miR-29a hsa-miR-30d hsa-miR-219-5p
    SwitchGear 3'UTR luciferase reporter plasmidCBX2 3' UTR sequence
    Inhib. RNA
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    Addgene plasmids for CBX2 
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      QuantiTect SYBR Green Assays in human, mouse, rat CBX2
      QuantiFast Probe-based Assays in human, mouse, rat CBX2

    Additional mRNA sequence: 

    AL157459.1 BC004252.1 BC119759.1 BC119760.1 

    7 DOTS entries:

    DT.451987  DT.40130210  DT.40130211  DT.100748381  DT.102826918  DT.91687342  DT.91880477 

    Selected AceView cDNA sequences (see all 90):

    BQ428097 BQ881757 BM473885 BF510073 AA378873 CB410567 AI361622 AI885164 
    BM717764 AI417551 AA347010 BM839724 AI680512 BU845448 BE267375 BQ069799 
    BF513841 BU630695 BM831545 BM988729 BM679787 AW771437 BE393424 AW197075 

    GeneLoc Exon Structure


    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CBX2 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: GAGCAGCCCG
    CBX2 Expression
    About this image


    CBX2 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 5) fully expand
     
     Trophoblast (Extraembryonic Tissues)
             Trophoblast Cells Trophoblast
     
     Testis (Reproductive System)
             Gonad Somatic Cells Primitive Gonad
     
     Ovary (Reproductive System)
             Gonad Somatic Cells Primitive Gonad
     
     Bone (Muscoskeletal System)
             Bone Marrow
     
     Gonad (Reproductive System)
             Gonad Somatic Cells Primitive Gonad
    CBX2 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CBX2 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.368410
        Pathway & Disease-focused RT2 Profiler PCR Arrays including CBX2: 
              Polycomb & Trithorax Complexes in human mouse rat
              Epigenetic Chromatin Remodeling Factors in human mouse rat

    Primer
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    In Situ
    Assay Products:
     

     
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    (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)
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    This gene was present in the common ancestor of animals.

    Orthologs for CBX2 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cbx21 , 5 chromobox homolog 2 (Drosophila Pc class)5
    chromobox 21
    82.91(n)1
    84.91(a)1
      11 (83.33 cM)5
    124161  NM_007623.21  NP_031649.21 
     1190229625 
    chicken
    (Gallus gallus)
    Aves CBX21 chromobox homolog 2 68.48(n)
    66.41(a)
      426248  XM_423911.4  XP_423911.4 
    lizard
    (Anolis carolinensis)
    Reptilia CBX26
    chromobox homolog 2
    61(a)
    1 ↔ 1
    2(100970557-100980317)
    African clawed frog
    (Xenopus laevis)
    Amphibia Pc12 Polycomb homolog Pc1 80.84(n)    AF101438.1 
    zebrafish
    (Danio rerio)
    Actinopterygii cbx22 chromobox homolog 2 (Drosophila Pc class) 78.92(n)   327291  AB074154.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Pc6
    Polycomb
    21(a)
    1 → many
    3L(21299238-21311120)


    ENSEMBL Gene Tree for CBX2 (if available)
    TreeFam Gene Tree for CBX2 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CBX2 gene
    CBX82  CBX62  CBX42  CBX72  
    3 SIMAP similar genes for CBX2 using alignment to 1 protein entry:     CBX2_HUMAN:
    CBX5    CBX1    CBX7

    Find genes that share paralogs with CBX2           About GenesLikeMe



    (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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CBX2 (see all 390)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1219082561,2,,4
    C46,XY sex reversal 5 (SRXY5)4 pathogenic173676593(+) GAGCCC/GCACAG 2 P R mis10--------
    rs1219082551,2,,4
    C46,XY sex reversal 5 (SRXY5)4 pathogenic173677628(+) GGAACC/TCGATG 2 P L mis10--------
    rs759221501,2
    F--73190920(+) TTGGGC/TAGATG 2 -- us2k11Minor allele frequency- T:0.50CSA 2
    rs734202831,2
    C,F--73191188(+) CAATAA/TATACA 2 -- us2k12Minor allele frequency- T:0.12WA 120
    rs1922016841,2
    --73191358(+) TTCCCC/TCCAAG 2 -- us2k10--------
    rs1431639541,2
    --73191437(+) AATGAA/GTGTAA 2 -- us2k10--------
    rs1837447351,2
    --73191497(+) TTCCTA/GCAGTT 2 -- us2k10--------
    rs1466781131,2
    --73191535(+) TAAAAA/CCAAAA 2 -- us2k10--------
    rs1417830161,2
    C--73191613(+) CTCCT-/ACAACAAG 2 -- us2k10--------
    rs612849991,2
    C,F--73191743(+) GGCTCA/GGGTCT 2 -- us2k14Minor allele frequency- G:0.10WA CSA 124

    HapMap Linkage Disequilibrium report for CBX2 (77751931 - 77761782 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for CBX2 (see all 13):    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv828116CNV Loss20364138
    nsv469865CNV Loss16826518
    nsv908957CNV Loss21882294
    nsv483050CNV Loss15286789
    nsv908947CNV Loss21882294
    nsv908951CNV Loss21882294
    nsv908956CNV Loss21882294
    nsv908948CNV Loss21882294
    dgv3292n71CNV Loss21882294
    dgv3294n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): CBX2
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CBX2
    DNA2.0 Custom Variant and Variant Library Synthesis for CBX2

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 602770   
    OMIM disorders: 613080  
    UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781
  • 46,XY sex reversal 5 (SRXY5) [MIM:613080]: A disorder of sex development. Affected individuals have a
    46,XY karyotype but present as phenotypically normal females. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 3 diseases for CBX2:    
    About MalaCards
    46xy sex reversal 5    gonadal dysgenesis    46xy sex reversal 6


    Find genes that share disorders with CBX2           About GenesLikeMe

    Genetic Association Database (GAD): CBX2

    Export disorders for CBX2 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

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    PubMed articles for CBX2 gene, integrated from 10 sources (see all 31):
    (articles sorted by number of sources associating them with CBX2)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25. (PubMed id 7782071)1, 2, 3, 9 Gecz J.... Fontes M. (Genomics 1995)
    2. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. (PubMed id 19361780)1, 2, 9 Biason-Lauber A.... Schoenle E.J. (Am. J. Hum. Genet. 2009)
    3. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells. (PubMed id 21282530)1, 2 Vandamme J.... Angrand P.O. (Mol. Cell. Proteomics 2011)
    4. Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus. (PubMed id 19636380)1, 2 Maertens G.N.... Peters G. (PLoS ONE 2009)
    5. The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans. (PubMed id 12167701)1, 2 Levine S.S....Kingston R.E. (Mol. Cell. Biol. 2002)
    6. Early detection and screening for prostatic cancer. (PubMed id 2477932)1, 3 Chodak G.W. (Urology 1989)
    7. The SOX2-interactome in brain cancer cells identifies the requirement of MSI2 and USP9X for the growth of brain tumor cells. (PubMed id 23667531)1 Cox J.L....Rizzino A. (PLoS ONE 2013)
    8. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    9. CBX2 gene analysis in patients with 46,XY and 46,XX gonadal disorders of sex development. (PubMed id 23219007)1 Norling A....Barbaro M. (Fertil. Steril. 2013)
    10. A human Polycomb isoform lacking the Pc box does not participate to PRC1 complexes but forms protein assemblies and represses transcription. (PubMed id 22419124)1 VAPlkel P....Angrand P.O. (Epigenetics 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    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

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    Entrez Gene: 84733 HGNC: 1552 AceView: MGC10561 Ensembl:ENSG00000173894 euGenes: HUgn84733
    ECgene: CBX2 H-InvDB: CBX2

    (According to HUGE)
    About This Section

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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CBX2 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CBX2 gene:
    Search GeneIP for patents involving CBX2

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



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, eBioscience, antibodies-online, and/or others, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Addgene, Cell lines from GenScript, and ESI BIO, Flow cytometery from eBioscience, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
    Advanced Cell Diagnostics, Animal models from genOway)
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