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 h... See more...

Aliases for CBX2 Gene

Aliases for CBX2 Gene

  • Chromobox 2 2 3 5
  • Cell Division Cycle Associated 6 2 3
  • Chromobox Protein Homolog 2 3 4
  • Chromobox Homolog 2 (Pc Class Homolog, Drosophila) 3
  • Chromobox Homolog 2 (Drosophila Pc Class) 2
  • Pc Class Homolog (Drosophila) 2
  • Chromobox Homolog 2 2
  • Pc Class Homolog 3
  • Modifier 3 3
  • MGC10561 2
  • CDCA6 3
  • SRXY5 3
  • CBX2 5
  • 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 46,Xy Sex Reversal 5 and 46,Xy Sex Reversal. Among its related pathways are Metabolism of proteins and SUMOylation. Gene Ontology (GO) annotations related to this gene include chromatin binding and methylated histone binding. An important paralog of this gene is CBX6.

UniProtKB/Swiss-Prot Summary 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 (PubMed:21282530). 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 (PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). Involved in sexual development, acting as activator of NR5A1 expression (PubMed:19361780).

Gene Wiki entry for CBX2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBX2 Gene

Genomics for CBX2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for CBX2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH17J079776 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +1.4 1448 4.6 CREB1 GATAD2A CTCF ZBTB33 PRDM10 ZNF629 SOX13 IKZF1 ZNF692 RCOR2 CBX2 USP36 piR-40877 CBX8
GH17J079774 Enhancer 0.8 Ensembl CraniofacialAtlas 600.7 -1.5 -1453 0.4 GATAD2A NFKBIZ ZNF600 ZNF341 ZBTB26 ZKSCAN8 ZNF205 ZNF335 KLF6 MXD4 CBX2 HSALNG0119124 ENPP7
GH17J079984 Promoter/Enhancer 2.2 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 13.7 +213.7 213739 11.2 ZNF221 RNF2 CEBPG HNRNPL CREB1 GATAD2A ATF7 PRDM10 ZNF629 REST EIF4A3 CCDC40 ENGASE CBX2 TBC1D16 RNF213-AS1 ENDOV SGSH CANT1 ENSG00000262580
GH17J079948 Promoter/Enhancer 1.7 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 11.3 +174.8 174798 5.2 TEAD4 KDM1A ZIC2 POLR2A ZNF600 SOX13 RAD21 ESR1 NR3C1 ZNF316 ENSG00000275516 TBC1D16 CBX4 CBX2 piR-55168
GH17J079918 Promoter/Enhancer 2.7 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 4.7 +150.2 150220 15.5 HNRNPL GATAD2A CTCF TFE3 SOX13 NFKBIZ KDM1A RCOR2 BACH1 TARDBP LINC01979 LINC01978 EIF4A3 ENGASE TBC1D16 CBX2 lnc-CBX4-4 CBX4
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBX2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBX2

Top Transcription factor binding sites by QIAGEN in the CBX2 gene promoter:
  • CREB
  • deltaCREB
  • NF-kappaB
  • NF-kappaB1
  • YY1

Genomic Locations for CBX2 Gene

Genomic Locations for CBX2 Gene
chr17:79,776,254-79,787,983
(GRCh38/hg38)
Size:
11,730 bases
Orientation:
Plus strand
chr17:77,751,931-77,761,782
(GRCh37/hg19)
Size:
9,852 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 (PubMed:12167701, PubMed:19636380, PubMed:21282530). The composition of the PRC1 complex may differ between the PRC1 complex in pluripotent embryonic stem cells containing RNF2, CBX7 and PCGF2, and the PRC1 complex in differentiating cells containing RNF2, CBX2, CBX4 and BMI1 (By similarity). May interact with H3C15, H3C1 and RNF2 (PubMed:18927235). Interacts (via chromodomain) with histone H3K9Me3 and H3K27me3 (By similarity).
    Miscellaneous:
    • The human orthologuous proteins of Drosphila Polycomb group protein Pc, CBX2, CBX4, CBX6, CBX7 and CBX8, show distinct nuclear 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

No data available for DME Specific Peptides for CBX2 Gene

Domains & Families for CBX2 Gene

Gene Families for CBX2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins

Protein Domains for CBX2 Gene

Suggested Antigen Peptide Sequences for CBX2 Gene

GenScript: Design optimal peptide antigens:
  • Chromobox protein homolog 2 (CBX2_HUMAN)
genes like me logo Genes that share domains with CBX2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CBX2 Gene

Function for CBX2 Gene

Molecular function for CBX2 Gene

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 (PubMed:21282530). 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 (PubMed:21282530). Binds to histone H3 trimethylated at 'Lys-9' (H3K9me3) or at 'Lys-27' (H3K27me3) (By similarity). Plays a role in the lineage differentiation of the germ layers in embryonic development (By similarity). Involved in sexual development, acting as activator of NR5A1 expression (PubMed:19361780).
GENATLAS Biochemistry:
Drosophila polycomb-like (PcG) chromobox homolog 2,involved in the compaction of chromatin

Phenotypes From GWAS Catalog for CBX2 Gene

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,IBA 21873635
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:
  • Cbx2 Cbx2<tm1Cim>
  • Cbx2 Cbx2<tm1b(KOMP)Wtsi>
  • Cbx2 Cbx2<tm1Ykf>

Animal Model Products

CRISPR Products

miRNA for CBX2 Gene

miRTarBase miRNAs that target CBX2

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBX2

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

Nucleus. Chromosome. Note=Localized in distinct foci on chromatin and in chromocenters. Localizes to the inactive X chromosome. Seems to be recruited to H3K27me3, H3K9ac and H3K3me2 sites on chromatin. {ECO:0000269 PubMed:18927235}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CBX2 gene
Compartment Confidence
nucleus 5
plasma membrane 1
extracellular 1
cytoskeleton 1
mitochondrion 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for CBX2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000791 euchromatin IEA --
GO:0000792 heterochromatin IEA,IBA 21873635
GO:0005634 nucleus IEA,IDA 21282530
GO:0005654 nucleoplasm TAS --
GO:0005694 chromosome IEA --
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 by RNA polymerase II IMP 21282530
GO:0006325 chromatin organization IEA --
GO:0007548 sex differentiation IEA --
GO:0030154 cell differentiation IEA --
GO:0045137 development of primary sexual characteristics IMP 19361780
genes like me logo Genes that share ontologies with CBX2: view

No data available for SIGNOR curated interactions for CBX2 Gene

Drugs & Compounds for CBX2 Gene

No Compound Related Data Available

Transcripts for CBX2 Gene

mRNA/cDNA for CBX2 Gene

2 REFSEQ mRNAs :
10 NCBI additional mRNA sequence :
3 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBX2

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

No ASD Table

Relevant External Links for CBX2 Gene

GeneLoc Exon Structure 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, MaxQB, and MOPED for CBX2 Gene



Protein tissue co-expression partners for CBX2 Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CBX2

SOURCE GeneReport for Unigene cluster for CBX2 Gene:

Hs.368410

Evidence on tissue expression from TISSUES for CBX2 Gene

  • Blood(4.3)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CBX2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Regions:
Head and neck:
  • brain
  • head
  • pituitary gland
Thorax:
  • breast
  • clavicle
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • arm
  • digit
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • humerus
  • lower limb
  • radius
  • shin
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with CBX2: view

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 30 31
  • 99.37 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia CBX2 30 31
  • 86.05 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia CBX2 30 31
  • 85.79 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Cbx2 30
  • 83.11 (n)
Mouse
(Mus musculus)
Mammalia Cbx2 30 17 31
  • 82.91 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia CBX2 31
  • 73 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia CBX2 31
  • 55 (a)
OneToOne
Chicken
(Gallus gallus)
Aves CBX2 30 31
  • 68.48 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia CBX2 31
  • 61 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100491304 30
  • 57.11 (n)
Str.5870 30
African clawed frog
(Xenopus laevis)
Amphibia Pc1 30
Zebrafish
(Danio rerio)
Actinopterygii cbx2 30 31
  • 50.1 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta Pc 31
  • 21 (a)
OneToMany
Species where no ortholog for CBX2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (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)
Aminode:
Evolutionary constrained regions (ECRs) for CBX2: view image

Paralogs for CBX2 Gene

Paralogs for CBX2 Gene

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

  • CBX2_HUMAN
genes like me logo Genes that share paralogs with CBX2: view

Variants for CBX2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBX2 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
708561 Likely Benign: not provided 79,784,008(+) G/A MISSENSE_VARIANT
708978 Benign: not provided 79,783,785(+) G/A SYNONYMOUS_VARIANT
716491 Benign: not provided 79,784,355(+) A/C SYNONYMOUS_VARIANT
722553 Likely Benign: not provided 79,783,980(+) C/T SYNONYMOUS_VARIANT
729346 Likely Benign: not provided 79,784,757(+) T/C SYNONYMOUS_VARIANT

Additional dbSNP identifiers (rs#s) for CBX2 Gene

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)

Additional Variant Information for CBX2 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for CBX2 Gene

MalaCards: The human disease database

(6) MalaCards diseases for CBX2 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
46,xy sex reversal 5
  • srxy5
46,xy sex reversal
  • 46 xy gonadal dysgenesis
gonadal dysgenesis
  • gonadal dysgenesis syndrome
preaxial deficiency, postaxial polydactyly, and hypospadias
  • guttmacher syndrome
adenosquamous prostate carcinoma
  • adenosquamous carcinoma of prostate
- 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.

Additional Disease Information for 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 23
  2. Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene. (PMID: 19361780) Biason-Lauber A … Schoenle EJ (American journal of human genetics 2009) 3 4 23
  3. Interaction proteomics analysis of polycomb proteins defines distinct PRC1 complexes in mammalian cells. (PMID: 21282530) Vandamme J … Angrand PO (Molecular & cellular proteomics : MCP 2011) 3 4
  4. Several distinct polycomb complexes regulate and co-localize on the INK4a tumor suppressor locus. (PMID: 19636380) Maertens GN … Peters G (PloS one 2009) 3 4
  5. The core of the polycomb repressive complex is compositionally and functionally conserved in flies and humans. (PMID: 12167701) Levine SS … Kingston RE (Molecular and cellular biology 2002) 3 4

Products for CBX2 Gene

  • Signalway Proteins for CBX2

Sources for CBX2 Gene