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Aliases for CBX2 Gene

Aliases for CBX2 Gene

  • Chromobox 2 2 3 5
  • Cell Division Cycle Associated 6 2 3
  • Chromobox Homolog 2 (Pc Class Homolog, Drosophila) 3
  • Chromobox Homolog 2 (Drosophila Pc Class) 2
  • Pc Class Homolog (Drosophila) 2
  • Chromobox Protein Homolog 2 3
  • Chromobox Homolog 2 2
  • Pc Class Homolog 3
  • Modifier 3 3
  • SRXY5 3
  • CDCA6 3
  • M33 3

External Ids for CBX2 Gene

Previous HGNC Symbols for CBX2 Gene

  • CDCA6

Previous GeneCards Identifiers for CBX2 Gene

  • GC17U990011
  • GC17M081046
  • GC17P078322
  • GC17P078458
  • GC17P075373
  • GC17P077751
  • GC17P073192

Summaries for CBX2 Gene

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 2) is a Protein Coding gene. Diseases associated with CBX2 include 46Xy Sex Reversal 5 and 46 Xy Gonadal Dysgenesis. Among its related pathways are SUMOylation and Cellular Senescence. GO annotations related to this gene include chromatin binding and methylated histone binding. An important paralog of this gene is CBX4.

UniProtKB/Swiss-Prot for CBX2 Gene

  • 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

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CBX2 Gene

Genomics for CBX2 Gene

Regulatory Elements for CBX2 Gene

Enhancers for CBX2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH17F079984 1.3 FANTOM5 Ensembl ENCODE 13.7 +214.5 214476 14.3 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 EIF4A3 LOC100294362 CCDC40 LOC105371918 CBX2 TBC1D16 SGSH LOC105371920 ENGASE RNF213
GH17F079808 1.6 FANTOM5 Ensembl ENCODE 13.4 +35.4 35382 8.0 HDGF ZFP64 ARID4B SIN3A ZNF2 YY1 ZNF416 ZNF143 FOS DEK LOC105371918 CBX8 CBX2 CBX4 CCDC40 PIR54271
GH17F079745 0.5 Ensembl ENCODE 12.3 -29.9 -29898 3.2 WRNIP1 ZNF48 ZNF2 ZNF143 ZNF263 REST KAT8 SSRP1 MIER3 GLIS1 CBX2 CBX4 ENPP7
GH17F079977 0.2 ENCODE 11.9 +201.2 201161 2.1 ZFHX2 GATA3 ZNF548 KLF4 EGR2 CBX2 EIF4A3 GC17P079977 ENSG00000262172
GH17F079981 0.4 ENCODE 11.9 +205.0 205017 0.7 ZNF585B CBX2 LOC100294362 GC17P079977 ENSG00000262172
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around CBX2 on UCSC Golden Path with GeneCards custom track

Promoters for CBX2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001354694 1212 2001 MLX SIN3A GLI4 ZNF2 GLIS2 ELK1 KLF7 ZNF202 ZNF263 SP3

Genomic Location for CBX2 Gene

Chromosome:
17
Start:
79,777,188 bp from pter
End:
79,787,983 bp from pter
Size:
10,796 bases
Orientation:
Plus strand

Genomic View for CBX2 Gene

Genes around CBX2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBX2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBX2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CBX2 Gene

Proteins for CBX2 Gene

  • Protein details for CBX2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q14781-CBX2_HUMAN
    Recommended name:
    Chromobox protein homolog 2
    Protein Accession:
    Q14781
    Secondary Accessions:
    • Q0VDA5
    • Q9BTB1

    Protein attributes for CBX2 Gene

    Size:
    532 amino acids
    Molecular mass:
    56081 Da
    Quaternary structure:
    • 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.

    Three dimensional structures from OCA and Proteopedia for CBX2 Gene

    Alternative splice isoforms for CBX2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CBX2 Gene

Post-translational modifications for CBX2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CBX2 Gene

Antibody Products

  • Abcam antibodies for CBX2
  • Santa Cruz Biotechnology (SCBT) Antibodies for CBX2

No data available for DME Specific Peptides for CBX2 Gene

Domains & Families for CBX2 Gene

Gene Families for CBX2 Gene

Suggested Antigen Peptide Sequences for CBX2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q14781

UniProtKB/Swiss-Prot:

CBX2_HUMAN :
  • Contains 1 A.T hook DNA-binding domain.
Domain:
  • Contains 1 A.T hook DNA-binding domain.
  • Contains 1 chromo domain.
genes like me logo Genes that share domains with CBX2: view

Function for CBX2 Gene

Molecular function for CBX2 Gene

GENATLAS Biochemistry:
Drosophila polycomb-like (PcG) chromobox homolog 2,involved in the compaction of chromatin
UniProtKB/Swiss-Prot 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 Ontology (GO) - Molecular Function for CBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003682 chromatin binding IEA --
GO:0005515 protein binding IPI 16189514
GO:0035064 methylated histone binding IEA --
genes like me logo Genes that share ontologies with CBX2: view
genes like me logo Genes that share phenotypes with CBX2: view

Human Phenotype Ontology for CBX2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CBX2 Gene

MGI Knock Outs for CBX2:

Animal Model Products

miRNA for CBX2 Gene

miRTarBase miRNAs that target CBX2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBX2

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for CBX2 Gene

Localization for CBX2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBX2 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CBX2 Gene COMPARTMENTS Subcellular localization image for CBX2 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for CBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000791 euchromatin IEA --
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus IEA,IDA 21282530
GO:0005654 nucleoplasm TAS --
GO:0031519 PcG protein complex IDA 21282530
genes like me logo Genes that share ontologies with CBX2: view

Pathways & Interactions for CBX2 Gene

genes like me logo Genes that share pathways with CBX2: view

Gene Ontology (GO) - Biological Process for CBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter IMP 21282530
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007548 sex differentiation IEA --
GO:0016569 covalent chromatin modification IEA --
genes like me logo Genes that share ontologies with CBX2: view

No data available for SIGNOR curated interactions for CBX2 Gene

Transcripts for CBX2 Gene

Unigene Clusters for CBX2 Gene

Chromobox homolog 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBX2

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CBX2 Gene

No ASD Table

Relevant External Links for CBX2 Gene

GeneLoc Exon Structure for
CBX2
ECgene alternative splicing isoforms for
CBX2

Expression for CBX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CBX2 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for CBX2 Gene

This gene is overexpressed in Testis (x11.4).

Protein differential expression in normal tissues from HIPED for CBX2 Gene

This gene is overexpressed in Liver (43.6) and Heart (22.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for CBX2 Gene



Protein tissue co-expression partners for CBX2 Gene

NURSA nuclear receptor signaling pathways regulating expression of CBX2 Gene:

CBX2

SOURCE GeneReport for Unigene cluster for CBX2 Gene:

Hs.368410
genes like me logo Genes that share expression patterns with CBX2: view

Primer Products

No data available for mRNA Expression by UniProt/SwissProt for CBX2 Gene

Orthologs for CBX2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBX2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CBX2 34 35
  • 99.37 (n)
dog
(Canis familiaris)
Mammalia CBX2 34 35
  • 86.05 (n)
cow
(Bos Taurus)
Mammalia CBX2 34 35
  • 85.79 (n)
rat
(Rattus norvegicus)
Mammalia Cbx2 34
  • 83.11 (n)
mouse
(Mus musculus)
Mammalia Cbx2 34 16 35
  • 82.91 (n)
oppossum
(Monodelphis domestica)
Mammalia CBX2 35
  • 73 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CBX2 35
  • 55 (a)
OneToOne
chicken
(Gallus gallus)
Aves CBX2 34 35
  • 68.48 (n)
lizard
(Anolis carolinensis)
Reptilia CBX2 35
  • 61 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100491304 34
  • 57.11 (n)
Str.5870 34
African clawed frog
(Xenopus laevis)
Amphibia Pc1 34
zebrafish
(Danio rerio)
Actinopterygii cbx2 34 35
  • 50.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta Pc 35
  • 21 (a)
OneToMany
Species where no ortholog for CBX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CBX2 Gene

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

Paralogs for CBX2 Gene

Paralogs for CBX2 Gene

(3) SIMAP similar genes for CBX2 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with CBX2: view

Variants for CBX2 Gene

Sequence variations from dbSNP and Humsavar for CBX2 Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs121908255 46,XY sex reversal 5 (SRXY5) [MIM:613080], Pathogenic 79,783,736(+) GGAAC(C/T)CGATG reference, missense
rs121908256 46,XY sex reversal 5 (SRXY5) [MIM:613080], Pathogenic 79,784,771(+) GAGCC(A/C/G)CACAG reference, missense
rs111439483 -- 79,781,160(+) AGAGA(A/G)GTATT intron-variant
rs111795035 -- 79,778,596(+) CGCCC(A/G)GCCCG intron-variant
rs111806178 -- 79,780,812(+) TTCAG(C/T)GGAGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CBX2 Gene

Variant ID Type Subtype PubMed ID
dgv538n67 CNV gain 20364138
esv33969 CNV gain+loss 17666407
nsv1112722 CNV deletion 24896259
nsv469865 CNV loss 16826518
nsv828116 CNV loss 20364138

Variation tolerance for CBX2 Gene

Residual Variation Intolerance Score: 11.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.16; 61.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CBX2 Gene

Human Gene Mutation Database (HGMD)
CBX2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBX2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBX2 Gene

Disorders for CBX2 Gene

MalaCards: The human disease database

(2) MalaCards diseases for CBX2 Gene - From: OMIM, ClinVar, Orphanet, and Swiss-Prot

Disorder Aliases PubMed IDs
46xy sex reversal 5
  • 46,xy sex reversal 5
46 xy gonadal dysgenesis
  • 46,xy sex reversal
- elite association - COSMIC cancer census association via MalaCards
Search CBX2 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

CBX2_HUMAN
  • 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. {ECO:0000269 PubMed:19361780}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for CBX2

Genetic Association Database (GAD)
CBX2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
CBX2
genes like me logo Genes that share disorders with CBX2: view

No data available for Genatlas for CBX2 Gene

Publications for CBX2 Gene

  1. Assignment of a Polycomb-like chromobox gene (CBX2) to human chromosome 17q25. (PMID: 7782071) Gecz J. … Fontes M. (Genomics 1995) 2 3 4 22 64
  2. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. (PMID: 19361780) Biason-Lauber A. … Schoenle E.J. (Am. J. Hum. Genet. 2009) 3 4 22 64
  3. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 Complexes in mammalian cells. (PMID: 21282530) Vandamme J. … Angrand P.O. (Mol. Cell. Proteomics 2011) 3 4 64
  4. Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus. (PMID: 19636380) Maertens G.N. … Peters G. (PLoS ONE 2009) 3 4 64
  5. The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans. (PMID: 12167701) Levine S.S. … Kingston R.E. (Mol. Cell. Biol. 2002) 3 4 64

Products for CBX2 Gene

Sources for CBX2 Gene

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