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CBX2 Gene

protein-coding   GIFtS: 52

GC17P073192
chromobox homolog 2
(Previous names: chromobox homolog 2 (Drosophila Pc class), cell division cycle associated 6 )
Symbol approved by the HUGO Gene Nomenclature Committee (HGNC) database
(Previous symbol: CDCA6)
Products    

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

Aliases & Descriptions
chromobox homolog 21 2     Pc class homolog2
MGC105611 2     chromobox protein homolog 22
cell division cycle associated 61 2     M33 polycomb-like2
M332 5     CDCA62
chromobox homolog 2 (Drosophila Pc class)1     modifier 32
chromobox homolog 2 (Pc class homolog, Drosophila)2     

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

Export aliases for CBX2 gene to outside databases

Previous GC identifers: GC17U990011 GC17M081046 GC17P078322 GC17P078458 GC17P075373 GC17P077751


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

Entrez Gene summary for CBX2:
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.

UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781
Function: Component of the Polycomb group (PcG) multiprotein PRC1 complex, a complex 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

(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 CBX2 gene promoter:
         NF-kappaB1   CREB   deltaCREB   YY1   NF-kappaB   Egr-3   CHOP-10   C/EBPalpha   NRSF form 2   NRSF form 1   
         Other transcription factors

   Search SABiosciences Chromatin IP Primers for CBX2

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for 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 gene densities for chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P073192:  view genomic region     (about GC identifiers)

Start:
73,192,850 bp from pter
End:
73,202,322 bp from pter
Size:
9,473 bases
Orientation:
plus strand

1 alternative location:
Chr17+ 77,751,993-77,761,378     
RefSeq DNA sequence:
NC_000017.10  NT_010783.15  

(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: CBX2_HUMAN, Q14781 (See protein sequence)
Recommended Name: Chromobox protein homolog 2  
Size: 532 amino acids; 56081 Da
Subunit: Component of chromatin-associated class II polycomb repressive complex 1 (PRC1/hPRC-H) at least composed of
PCGF2/RNF110, BMI1/PCGF4, CBX2/M33, CBX4/PC2, CBX8/PC3, PHC1, PHC2, PHC3, SCMH1, RING1 and RNF2/RING2
Subcellular location: Nucleus
PDB structure from and Proteopedia :
2D9U (3D)    3H91 (3D)    
Secondary accessions: Q0VDA5 Q9BTB1
Alternative splicing: 2 isoforms:  Q14781-1   Q14781-2   

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

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


ENSEMBL proteins: 
ENSP00000308750 ENSP00000269399 


Human Recombinant Proteins 
Browse Purified and Recombinant Proteins at Millipore
Browse Human Recombinant Proteins at Sigma-Aldrich
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
OriGene Protein Over-expression Lysate: CBX2
GenScript Custom Purified and Recombinant Proteins Services for CBX2 
Novus Biologicals Proteins for CBX2
Novus Biologicals Lysate for CBX2
Browse Sino Biological Recombinant Proteins
Browse ProSpec Recombinant Proteins

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000785 chromatin IEA--
GO:0005634 nucleus NAS--
GO:0031519 PcG protein complex IEA--
About this table

CBX2 for ontologies           About GeneDecksing



Antibodies for CBX2: 
Browse Millipore's Extensive Line of Mono- and Polyclonal Antibodies
Sigma-Aldrich Antibodies for CBX2
Browse R&D Systems for Antibodies
Browse OriGene Antibodies
GenScript Custom Superior Antibodies Services for CBX2 
Novus Biologicals Antibodies for CBX2
Browse antibodies at Epitomics

Assays for CBX2: 
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 CBX2 
Browse Enzo Life Sciences for kits & assays
Uscn ELISAs and CLIAs for CBX2 


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

CBX2 for domains           About GeneDecksing

3 InterPro domains/families:
 IPR017956 AT_hook_DNA-bd_motif
 IPR000953 Chromodomain
 IPR016197 Chromodomain-like

Graphical View of Domain Structure for InterPro Entry Q14781

ProtoNet protein and cluster: Q14781

1 Blocks protein family: IPB000953 Chromo domain

UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781
Similarity: Contains 1 A.T hook DNA-binding domain
Similarity: Contains 1 chromo 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: CBX2_HUMAN, Q14781
Function: Component of the Polycomb group (PcG) multiprotein PRC1 complex, a complex 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

Inhib.
RNA:
    
Browse for Gene Knock-down Tools from Millipore
Browse Nano Scale siRNA at Sigma-Aldrich
Sigma-Aldrich siRNA for CBX2
Sigma-Aldrich shRNA for CBX2
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CBX2
OriGene shRNA RFP (see all 2): CBX2
OriGene basic RS shRNA (see all 2): CBX2
OriGene siRNA (see all 2): CBX2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CBX2 
miRNA:Sigma-Aldrich microRNA Mimics for CBX2
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CBX2 
8/10 SABiosciences Assays for microRNAs that regulate CBX2 (see all 10):
hsa-miR-30c hsa-miR-1321 hsa-miR-1271 hsa-miR-30d hsa-miR-124 hsa-miR-30a hsa-miR-506 hsa-miR-30b

Gene
Editing:
Browse CompoZr Knockout ZFN at Sigma-Aldrich 

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 2): CBX2
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CBX2
OriGene untagged cDNA clones in CMV expression vector (see all 2): CBX2
OriGene 3'-UTR clone: CBX2 
Browse MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for CBX2 
Browse Sino Biological Human cDNA Clones

Cell
Lines:
  
GenScript Custom overexpressing Cell Line Services for CBX2 

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

4 Gene Ontology (GO) molecular function terms (GO ID links to tree view):

GO IDQualified GO termEvidencePubMed IDs
GO:0003677 DNA binding IEA--
GO:0003682 chromatin binding IEA--
GO:0005515 protein binding IPI16189514
GO:0016564 transcription repressor activity NAS--
About this table

CBX2 for ontologies           About GeneDecksing

Animal Models: 12 MGI mutant phenotypes (inferred from 2 alleles(MGI details for Cbx2):

cellularcraniofacialdigestive/alimentaryendocrine/exocrine glandgrowth/size
hematopoietic systemimmune systemlethality-postnatallethality-prenatal/perinatallife span-post-weaning/aging
reproductive systemskeleton

CBX2 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

    SABiosciences Custom Pathway-Focused PCR Arrays for CBX2 

    SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for CBX2

5/34 Interacting proteins for CBX2 (Q147811, 2) via UniProtKB, MINT, and/or STRING (see all 34)
InteractantInteraction Details
GeneCardExternal ID(s)
MDFIQ997501, 2EBI-745934,EBI-724076 MINT-67651
USP11P517842MINT-8010325 MINT-8010390 MINT-8013034
CBX4O002572MINT-8010325 MINT-8010390
CBX8Q9HC522MINT-8010325 MINT-8010390
PHC1P783642MINT-8010325 MINT-8010390
About this table

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

GO IDQualified GO termEvidencePubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IEA--
GO:0006333 chromatin assembly or disassembly IEA--
GO:0016481 negative regulation of transcription NAS--
GO:0016568 chromatin modification NAS--
GO:0030154 cell differentiation IEA--
About this table

CBX2 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 CBX2


(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 for CBX2
Sigma-Aldrich shRNA for CBX2
OriGene 29mer shRNA kits in GFP-retroviral vector (see all 2): CBX2
OriGene shRNA RFP (see all 2): CBX2
OriGene basic RS shRNA (see all 2): CBX2
OriGene siRNA (see all 2): CBX2
QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CBX2 
miRNA: Sigma-Aldrich microRNA Mimics for CBX2
Browse microRNA target validation systems at Sigma-Aldrich 
QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CBX2 
8/10 SABiosciences Assays for microRNAs that regulate CBX2 (see all 10):
hsa-miR-30c hsa-miR-1321 hsa-miR-1271 hsa-miR-30d hsa-miR-124 hsa-miR-30a hsa-miR-506 hsa-miR-30b
Clones: Browse FLAG tag genes at Sigma-Aldrich
OriGene GFP tagged cDNA clones in CMV expression vector (see all 2): CBX2
OriGene Myc/DDK tagged cDNA clones in CMV expression vector (see all 2): CBX2
OriGene untagged cDNA clones in CMV expression vector (see all 2): CBX2
OriGene 3'-UTR Clone: CBX2 
Browse OriGene MicroRNA Expression Plasmids 
GenScript Custom cDNA clone Services for CBX2 
Primers: OriGene genome-wide validated SYBR primer pairs: CBX2
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for CBX2: PPH24210A

REFSEQ mRNAs for CBX2 gene (2 alternative transcripts): 

NM_005189.2  NM_032647.3  

Additional cDNA 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 

24/90 AceView cDNA sequences (see all 90):

BM679787 BM988729 BU845448 BF510073 BQ881757 CB410567 BM831545 CB053187 
AI361622 AL521369 BQ428097 AA378873 BE267375 NM_032647 BM473885 BU630695 
BE393424 AL157459 AI417551 AW197075 BQ069799 AW771437 AA347010 AI885164 

highest scoring ESTs for CBX2:

AI885164 AA347010 AA353888 AA356375 AA378873 AA477180 AA502767 AA578671 AA581572 AA779456 

Unigene Cluster for CBX2:

Chromobox homolog 2
Hs.368410  [show with all ESTs]
Unigene Representative Sequence: NM_005189


GeneLoc Exon Structure

2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000310942(uc002jxc.2) ENST00000269399(uc002jxb.1)

(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

CBX2 expression in normal and diseased human tissues

1  / 2  / 3

9 probe-sets matching CBX2 gene

Affymetrix
probe-set
Array  GeneAnnot data GeneNote data GeneTide data
# genes Sensitivity Specificity Correlation Length Gb_Accession Consensus Uniqueness Score Rank
56190_at2, 3 U95-B 1 0.75 1.00 0.80 1.00 AI885164 0.80 1.00 0.91 1
31520_at2, 3 U95-A 1 0.62 1.00 0.28 0.10 X77824 0.20 1.00 0.72 1
88328_at2, 3 U95-D 1 0.31 1.00 0.94 1.01 AA578671 0.60 1.00 0.82 1
224138_at2, 3 U133-B 1 0.82 1.00 -- -- BC004252 0.60 1.00 0.82 1
215989_at2, 3 U133-A 1 0.64 1.00 -- -- BE258133 0.60 1.00 0.82 1
226473_at2, 3 U133-B 1 0.55 1.00 -- -- BE514414 0.60 1.00 0.82 1
224138_at2 U133Plus2 1 0.82 1.00 -- -- -- -- -- -- --
215989_at2 U133Plus2 1 0.64 1.00 -- -- -- -- -- -- --
226473_at2 U133Plus2 1 0.55 1.00 -- -- -- -- -- -- --
About this table

CBX2 for expression           About GeneDecksing

Data from Genenote  (Publications) and GNF BioGPS
    About these images
CBX2 gene expression
CBX2 gene electronic northern expression
CBX2 gene sage expression
About these images

CGAP SAGE TAG: GAGCAGCCCG

SOURCE GeneReport for Unigene cluster: Hs.368410

Expression variation in blood from EXPOLDB for CBX2

Primers: OriGene genome-wide validated SYBR primer pairs: CBX2
Browse OriGene validated miRNA SYBR primer pairs 
SABiosciences RT2 qPCR Primer Assay for CBX2: PPH24210A
    SABiosciences Custom PCR Arrays for CBX2 


(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 CBX2 gene from 5/8 species (see all 8)
Organism Gene Locus Description Human
Similarity
NCBI accessions
dog
(Canis familiaris)
CBX21   -- chromobox homolog 2 (Pc class homolog, Drosophila) 87.62(n)
87.55(a)
483349  XM_540468.2  XP_540468.2 
cow
(Bos taurus)
CBX21   -- chromobox homolog 2 (Pc class homolog, Drosophila) 85.79(n)
86.6(a)
506628  XM_583104.3  XP_583104.3 
rat
(Rattus norvegicus)
Cbx21   -- chromobox homolog 2 (Pc class homolog, Drosophila) 83.11(n)
83.82(a)
303730  XM_221185.4  XP_221185.4 
mouse
(Mus musculus)
Cbx21 , 5 11 (83.33 cM)5
chromobox homolog 2 (Drosophila Pc class)1, 5 83.3(n)1
85.49(a)1
124161  NM_007623.21  NP_031649.21 
 AI4268075  AK1416475  (see all 11)
chicken
(Gallus gallus)
CBX21   -- chromobox homolog 2 (Pc class homolog, Drosophila) 67.09(n)
63.25(a)
426248  XM_423911.2  XP_423911.2 
About this table        Species with no ortholog for CBX2

ENSEMBL Gene Tree for CBX2 (if available)

(Paralogs according to 1HomoloGene
and 2Ensembl, Pseudogenes according to 3Pseudogene.org)
About This Section
Paralogs for CBX2 gene
CBX82  CBX42  CBX72  

CBX2 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

10/121 NCBI SNPs in CBX2 are shown (see all 121)
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidChr 17 posSequenceRecsAA
Chg
TypeMoreRecsAllele
freq
PopTotal
sample
More
----------
rs20363161,2
C,F,A,H,77754778(+) CCCTTC/TCCTGA 2 -- int1 trp38Minor allele frequency- T:0.34NS EA NA 578
rs20363171,2
C,A,H,77754779(+) CCTTCC/TCTGAA 2 -- int1 trp38Minor allele frequency- T:0.30NA EA 420
rs37519531,2
C,F,A,H,77753442(+) TCCCTG/AAGAAG 2 -- int113Minor allele frequency- A:0.14EA NA NS WA 2262
rs37519541,2
C,F,77753485(+) CAGCCA/GTACTT 2 -- int116Minor allele frequency- G:0.07EA NA NS 2708
rs37519551,2
C,F,A,H,77754073(+) CTGGAA/CGGTTT 2 -- int121Minor allele frequency- N:0.00EA NA NS WA 2950
rs37519561,2
C,F,A,77758484(+) AAGCTG/AGCTTC 4 /L syn1 ref1 ese321Minor allele frequency- A:0.21EA NS NA 3932
rs37519571,2
C,F,A,77758691(+) AACCCG/ATCAGT 4 /P syn1 ref1 ese312Minor allele frequency- A:0.33EA NS NA WA 2204
rs37519581,2
C,F,77758865(+) TGCGCG/AGTCTT 2 -- ut315Minor allele frequency- A:0.01EA NS 1918
rs37519591,2
H77760308(+) CTGGGA/TGCTAG 2 -- ut315Minor allele frequency- T:0.00EA NS 1912
rs38295741,2
C,F,A,77753767(+) ACCAAG/ATAGCA 2 -- int115Minor allele frequency- A:0.15EA NS NA WA 2664
About this table

HapMap Linkage Disequilibrium images for CBX2 (up to first 250kb)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for CBX2
     3 CNVs: 7173 0213 2234

QIAGEN SeqTarget long-range PCR primers for resequencing CBX2 

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

CBX2 for disorders           About GeneDecksing

OMIM: 602770   disorders: 613080  

UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781

  • Defects in CBX2 are the cause of gonadal dysgenesis XY complete CBX2-related (GDXYC-CBX2) [MIM:613080]. It is
  • a disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normal
    females

    Human Gene Mutation Database (HGMD): CBX2

    Export disorders and mutations for CBX2 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

    10/21 PubMed articles for CBX2 gene, integrated from 7 sources (see all 21):
    (articles sorted by number of sources associating them with CBX2)
    1. Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25. (PubMed id 7782071)1, 2, 3, 7 Gecz J.... Fontes M. (1995)
    2. Ovaries and female phenotype in a girl with 46,XY kar yotype and mutations in the CBX2 gene. (PubMed id 19361780)1, 2, 7 Biason-Lauber A....Schoenle E.J. (2009)
    3. Early detection and screening for prostatic cancer. (PubMed id 2477932)1, 3 Chodak G.W. (1989)
    4. Several distinct polycomb complexes regulate and co-l ocalize on the INK4a tumor suppressor locus. (PubMed id 19636380)1 Maertens G.N....Peters G. (2009)
    5. An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
    6. Human polycomb 2 protein is a SUMO E3 ligase and alleviates substrate-induced inhibition of cystathionine beta-synthase sumoylation. (PubMed id 19107218)1 Agrawal N. and Banerjee R. (2008)
    7. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
    8. Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
    9. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)2 Gerhard D.S....Malek J. (2004)
    10. Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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
    Entrez Gene: 84733 HGNC: 1552 AceView: MGC10561 Ensembl:ENSG00000173894 euGenes: HUgn84733
    ECgene: CBX2 H-InvDB: CBX2

    (According to HUGE)
    About This Section
      --

    (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
      --

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from XenneX, Inc.)
    About This Section
    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 by Millipore, Sigma-Aldrich, R&D Systems, Qiagen, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Epitomics, ProSpec, Uscn,
    Clones available from Millipore, Sigma-Aldrich, OriGene, GenScript, Sino Biological, PCR Arrays from SABiosciences, Drugs and/or compounds by Sigma-Aldrich, Tocris Bioscience, and/or Enzo Life Sciences)
    About This Section

     Millipore Custom Antibody & Bulk Services
     Millipore Preclinical / Clinical Development Services
     Millipore Immunoassay Services
     Millipore Target Screening & Profiling Services

     Predesigned and custom siRNAs for CBX2 Antibodies for CBX2
     Explore super-pooled esiRNAs Browse proteins at Sigma-Aldrich
     Lentivirus-delivered shRNAs for CBX2 microRNA Mimics for CBX2
     "Your Favorite Gene" Pathways and Molecular Interaction Networks Browse Nano Scale siRNA at Sigma-Aldrich
     Browse iPSC Reprogramming Factors at Sigma-Aldrich Browse small molecules at Sigma-Aldrich
     Browse FLAG tag genes at Sigma-Aldrich Browse ELISAs at Sigma-Aldrich
     Browse microRNA Target Validation Systems at Sigma-Aldrich Browse CompoZr Knockout ZFN at Sigma-Aldrich
    feedback
      
     Antibodies   Cell Culture Products  
     ELISAs   Flow Cytometry Kits  
     Primer Pairs   Kinase Activity Assays/Reagents  
     ELISpot Kits/Development Modules   TFB/Immunoprecipitation Assays  
     Apoptosis Detection Kits/Reagents   Protease Activity Assays/Reagents  
     DNA Damage/Repair Kits/Reagents   Multiplex/Array Assay Kits/Reagents  
     Cell Selection/Detection Kits/Reagents   ELISA/Assay Development Kits/Reagents  
     Phosphatase Activity Assays/Reagents   Recombinant/Natural Proteins  
     Tagged/untagged cDNA clones
     Validated SYBR primer pairs
     Purified proteins from HEK293T cells
     Lysates
     Western blot validated antibodies
     shRNA in GFP-retroviral vector
     siRNA
     Custom Immunoassay Development
     Fluorogenic Cell Assay Kits
     miRNA Primers for qPCR Assays
     3' UTR Clones for miRNA Target Studies
     miRNA Expression Plasmids

     
     
     QIAGEN Custom miScript Target Protector blocks miRNA-binding site of CBX2
     SeqTarget long-range PCR primers for resequencing CBX2
     QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays for CBX2
     QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing of CBX2
     GenScript Custom Purified and Recombinant Proteins Services for CBX2 GenScript Custom cDNA clones with any tag delivered in your preferred vector Services for CBX2
     GenScript Custom Assay Services for CBX2 GenScript Custom Superior Antibodies Services for CBX2
     GenScript Custom overexpressing Cell Line Services for CBX2 CloneReady with Over 120,000 Genes
     Gene Synthesis: Any Gene in Any Vector Vector-based siRNA and miRNA, Ready for Transfection
     Gene Mutant Library, Variants up to 10^11 Plasmid Preparation
     Custom Peptide Services
     Search for Antibodies & Assays

     Regulatory tfbs in CBX2 promoter
     Search Chromatin IP Primers for CBX2
     RT2 qPCR Primer Assay for CBX2
     GNC Network for CBX2
     Assays for microRNAs that regulate CBX2
     SABiosciences Custom PCR Arrays for CBX2
     Search Tocris compounds for CBX2
     Browse Sino Biological Proteins and Antibodies
     Browse Sino Biological cDNA Clones
     Antibodies/Proteins Production Services
     Rabbit Monoclonal Antibody Platform
     Bulk Purchasing
     Search www.enzolifesciences.com for proteins, assays, substrates, inhibitors & antibodies
     Novus Tissue Slides
     Antibodies for CBX2
     Proteins for CBX2
     Lysates for CBX2
     Browse antibodies at Epitomics
     Browse ProSpec Recombinant Proteins

     ELISAs and CLIAs for CBX2
           

    GeneCards Homepage - Last full update: 31 Dec 2010 - Incremental updates: 9 Jan 2011 , 10 Jan 2011

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