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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 Cellular Senescence and Metabolism of proteins. GO annotations related to this gene include chromatin binding and methylated histone binding. An important paralog of this gene is CBX8.

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 CIViC summary , 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
GH17G079984 2.1 FANTOM5 Ensembl ENCODE dbSUPER 13.7 +212.9 212869 11.1 CREB3L1 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 EIF4A3 LOC100294362 CBX2 CCDC40 TBC1D16 SGSH LOC105371920 ENGASE CBX4 CBX8
GH17G079808 2 FANTOM5 Ensembl ENCODE dbSUPER 13.4 +35.4 35382 8.0 HDGF PKNOX1 AGO1 ZFP64 ARID4B SIN3A ZNF2 ZBTB7B YY1 ZNF766 CBX8 CBX2 CBX4 CCDC40 PIR54271
GH17G079745 1.5 Ensembl ENCODE dbSUPER 12.3 -29.8 -29820 3.0 HDGF FOXA2 WRNIP1 ZNF2 ZNF48 ZNF143 ZNF263 NCOA1 REST KAT8 CBX2 CBX4 ENPP7
GH17G079948 1.4 Ensembl ENCODE dbSUPER 11.3 +173.9 173865 5.2 HDAC1 PKNOX1 RAD21 TCF12 ZNF121 ZNF366 CREM CEBPB ZNF398 REST LOC100294362 CBX4 CBX2 PIR49167 ENSG00000275516
GH17G080068 1.2 Ensembl ENCODE 9.9 +293.0 293030 3.8 PKNOX1 FOXA2 ZFP64 ARID4B DMAP1 YBX1 ZNF48 YY1 ZNF121 GATA2 GAA CCDC40 TBC1D16 EIF4A3 CBX2 GC17P080040 MIR1268B
- Elite enhancer and/or Elite enhancer-gene association 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
ENSR00000099101 1212 1601 MLX SIN3A ZNF2 KLF13 ZNF263 SP3 SP5 REST ZNF592 SREBF1

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

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

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

No data available for UniProtKB/Swiss-Prot for CBX2 Gene

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

CRISPR Products

miRNA for CBX2 Gene

miRTarBase miRNAs that target CBX2

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBX2
  • Applied Biological Materials Clones 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

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

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 IDA,IEA 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

Drugs & Compounds for CBX2 Gene

No Compound Related Data Available

Transcripts for CBX2 Gene

Unigene Clusters for CBX2 Gene

Chromobox homolog 2:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Addgene plasmids for CBX2
  • Applied Biological Materials Clones 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
ECgene alternative splicing isoforms for
CBX2

Expression for CBX2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP 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

Evidence on tissue expression from TISSUES for CBX2 Gene

  • Blood(4)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • skeleton
Organs:
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

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 Pathogenic, 46,XY sex reversal 5 (SRXY5) [MIM:613080] 79,783,736(+) GGAAC(C/T)CGATG reference, missense
rs121908256 Pathogenic, 46,XY sex reversal 5 (SRXY5) [MIM:613080] 79,784,771(+) GAGCC(A/C/G)CACAG reference, missense
rs1057519060 Uncertain significance 79,781,777(+) TCCTC(-/C)TGCAG reference, frameshift-variant
rs1000019274 -- 79,785,428(+) CTTTG(A/G)TCCCT reference, utr-variant-3-prime, stop-gained
rs1000165054 -- 79,785,864(+) TATGG(C/G)TGCCA utr-variant-3-prime

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

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

Disorder Aliases PubMed IDs
46xy sex reversal 5
  • srxy5
46 xy gonadal dysgenesis
  • 46,xy sex reversal
cbx2-related 46,xy dsd and 46,xy cgd
  • 46xy sex reversal 5
- 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

  • Addgene plasmids for CBX2

Sources for CBX2 Gene

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