Aliases & Descriptions for CBX2 gene
(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 | | |
Export aliases for CBX2 gene to outside databasesPrevious GC identifers: GC17U990011 GC17M081046 GC17P078322 GC17P078458 GC17P075373 GC17P077751 |
Summaries for CBX2 gene(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 transcriptionallyrepressive 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 alsoassociated with gonadal dysgenesis in humans. Alternatively spliced transcript variants encoding different isoformshave been noted for this gene. UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781Function: Component of the Polycomb group (PcG) multiprotein PRC1 complex, a complex required to maintain thetranscriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex actsvia 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 ofNR5A1 expression Gene Wiki entry for CBX2 |
Genomic Views 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 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: 17q25.3CBX2 Gene in genomic location: bands according to Ensembl, locations according to
(and/or Entrez Gene and/or Ensembl if different)

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
|
Proteins for CBX2 gene
(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 ofPCGF2/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 Q9BTB1Alternative 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
3 Gene Ontology (GO) cellular component terms (GO ID links to tree view): About this table
CBX2 for ontologies About GeneDecksing
Antibodies for CBX2: Assays for CBX2: |
Protein
Domains/ Families for CBX2 gene(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:Graphical View of Domain Structure for InterPro Entry Q14781ProtoNet protein and cluster: Q14781 1 Blocks protein family: IPB000953 Chromo domain
UniProtKB/Swiss-Prot: CBX2_HUMAN, Q14781Similarity: Contains 1 A.T hook DNA-binding domainSimilarity: Contains 1 chromo domain |
Gene Function for CBX2 gene
(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, Q14781Function: Component of the Polycomb group (PcG) multiprotein PRC1 complex, a complex required to maintain thetranscriptionally repressive state of many genes, including Hox genes, throughout development. PcG PRC1 complex actsvia 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 ofNR5A1 expression
Genatlas biochemistry entry for CBX2:Drosophila polycomb-like (PcG) chromobox homolog 2,involved in the compaction of chromatin4 Gene Ontology (GO) molecular function terms (GO ID links to tree view): About this table
CBX2 for ontologies About GeneDecksing
Animal Models: 12 MGI mutant phenotypes (inferred from 2 alleles ) (MGI details for Cbx2):
CBX2 for phenotypes About GeneDecksing
|
Pathways & Interactions for CBX2 gene
(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)About this table
5/6 Gene Ontology (GO) biological process terms (GO ID links to tree view) (see all 6): | GO ID | Qualified GO term | Evidence | PubMed 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
|
Drugs & Compounds for CBX2 gene(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 Tocris compounds for CBX2
|
Transcripts for CBX2 gene(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
|
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)
|
Expression for CBX2 gene
(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 About these images
CGAP SAGE TAG: GAGCAGCCCG
SOURCE GeneReport for Unigene cluster: Hs.368410
Expression variation in blood from EXPOLDB for CBX2 SABiosciences Custom PCR Arrays for CBX2 
|
Orthologs for CBX2 gene
(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)
About this table Species with no ortholog for CBX2
ENSEMBL Gene Tree for CBX2 (if available) |
Paralogs for CBX2 gene(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
|
Genomic Variants for CBX2 gene(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
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Chr 17 pos | Sequence | Recs | AA Chg | Type | More | Recs | Allele freq | Pop | Total sample | More |
|---|
About this tableHapMap 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  |
|
Disorders & Mutations for CBX2 gene
(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 isa disorder of sex development. Affected individuals have a 46,XY karyotype but present as phenotypically normalfemalesHuman Gene Mutation Database (HGMD): CBX2 Export disorders and mutations for CBX2 gene to outside databases
|
Medical News for CBX2 gene(Possibly Related Articles in
Doctor's Guide)
About This Section
| -- |
Publications for CBX2 gene (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)- Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25. (PubMed id 7782071)1, 2, 3, 7 Gecz J.... Fontes M. (1995)
- 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)
- Early detection and screening for prostatic cancer. (PubMed id 2477932)1, 3 Chodak G.W. (1989)
- 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)
- An empirical framework for binary interactome mapping . (PubMed id 19060904)1 Venkatesan K....Vidal M. (2009)
- 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)
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PubMed id 16625196)2 Zody M.C.... Nusbaum C. (2006)
- Towards a proteome-scale map of the human protein-protein interaction network. (PubMed id 16189514)1 Rual J.F....Vidal M. (2005)
- 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)
- Transcriptome characterization elucidates signaling networks that control human ES cell growth and differentiation. (PubMed id 15146197)1 Brandenberger R.... Stanton L.W. (2004)
|
External Searches for CBX2 gene
(in PubMed,
OMIM, and NCBI Bookshelf) About This Section
|
|
Genome Databases showing CBX2 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing CBX2 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing CBX2 gene(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
|
|
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
|
Products for CBX2 gene(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
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| | | Search Tocris compounds for CBX2 |
| |  |  |  |  | | | | |
 | | ELISAs and CLIAs for CBX2 |
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