CBX8 Gene (Protein Coding)

Chromobox 8

GC17M079794
GIFtS:
38
See more...

Aliases for CBX8 Gene

Aliases for CBX8 Gene

  • Chromobox 8 2 3 5
  • PC3 2 3 4
  • RC1 2 3 4
  • Chromobox Protein Homolog 8 3 4
  • Rectachrome 1 3 4
  • Polycomb 3 2 3
  • Chromobox Homolog 8 (Pc Class Homolog, Drosophila) 3
  • Chromobox Homolog 8 (Drosophila Pc Class) 2
  • Pc Class 3 Homolog (Drosophila) 2
  • Chromobox Homolog 8 2
  • Pc Class 3 Homolog 3
  • Polycomb 3 Homolog 4
  • CBX8 5
  • HPC3 2
  • HPc3 4
  • Pc3 4

External Ids for CBX8 Gene

Previous GeneCards Identifiers for CBX8 Gene

  • GC17M077418
  • GC17M081056
  • GC17M078332
  • GC17M078468
  • GC17M078452
  • GC17M075382
  • GC17M077765
  • GC17M073209

Summaries for CBX8 Gene

GeneCards Summary for CBX8 Gene

CBX8 (Chromobox 8) is a Protein Coding gene. Diseases associated with CBX8 include Root Caries and Esophageal Varix. Among its related pathways are SUMOylation and Cellular Senescence (REACTOME). Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and single-stranded RNA binding. An important paralog of this gene is CBX6.

UniProtKB/Swiss-Prot Summary for CBX8 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.

Gene Wiki entry for CBX8 Gene

Additional gene information for CBX8 Gene

No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CBX8 Gene

Genomics for CBX8 Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for CBX8 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
GH17J079796 Promoter/Enhancer 2.2 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 272.9 +4.4 4447 3.7 SP1 ZNF600 JUND ATF2 KLF9 ZNF10 POLR2A ZBTB10 YY1 MXD4 CBX8 HSALNG0119130 USP36 CBX4 lnc-CBX8-1 piR-42078 CBX2
GH17J079800 Promoter/Enhancer 1.5 Ensembl ENCODE dbSUPER 250.7 +0.5 486 1.8 BCLAF1 ZNF600 CEBPA ZIC2 CEBPB FEZF1 ZNF639 ZNF341 ZEB1 KLF7 CBX8 ENSG00000262768 lnc-CBX8-1 EIF4A3 USP36 ENGASE SGSH CANT1 CBX2
GH17J079802 Enhancer 1.2 FANTOM5 ENCODE dbSUPER 250.7 -1.2 -1222 0.4 IKZF1 MYC ZNF592 NFIC SMAD5 BHLHE40 TBP MNT NBN SKIL CBX8 HSALNG0119132 HSALNG0119133 lnc-CBX8-1 CCDC40 CBX4
GH17J079801 Enhancer 0.7 ENCODE dbSUPER 250.7 +1.7 1706 0.1 ZIC2 EZH2 CBX8 CBX2 ZBTB33 GLIS1 BCL6B GLIS2 PRDM2 HIC1 CBX8 ENSG00000262768 HSALNG0119130 lnc-CBX8-1 CBX2
GH17J079804 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE 27.2 -2.9 -2868 0.7 ZBTB10 BCL11A SIN3A ZFP64 THAP11 GABPA KLF9 SMAD4 SP2 SAP130 HSALNG0119132 HSALNG0119133 CBX8 CBX2 CBX4 NONHSAG022925.2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CBX8 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for CBX8

Top Transcription factor binding sites by QIAGEN in the CBX8 gene promoter:
  • c-Ets-1
  • Gfi-1
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Pax-4a
  • Pax-6
  • POU2F1
  • POU2F1a
  • SRY

Genomic Locations for CBX8 Gene

Latest Assembly
chr17:79,792,132-79,801,683
(GRCh38/hg38)
Size:
9,552 bases
Orientation:
Minus strand

Previous Assembly
chr17:77,765,931-77,770,876
(GRCh37/hg19 by Entrez Gene)
Size:
4,946 bases
Orientation:
Minus strand

chr17:77,765,931-77,775,482
(GRCh37/hg19 by Ensembl)
Size:
9,552 bases
Orientation:
Minus strand

Genomic View for CBX8 Gene

Genes around CBX8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CBX8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CBX8 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for CBX8 Gene

Proteins for CBX8 Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

  • Protein details for CBX8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9HC52-CBX8_HUMAN
    Recommended name:
    Chromobox protein homolog 8
    Protein Accession:
    Q9HC52
    Secondary Accessions:
    • Q96H39
    • Q9NR07

    Protein attributes for CBX8 Gene

    Size:
    389 amino acids
    Molecular mass:
    43396 Da
    Quaternary structure:
    • Component of a PRC1-like complex. Interacts with RING1 RNF2, PCGF1, PCGF2, PCGF3, BMI1, PCGF5 AND PCGF6. Interacts with MLLT3 and histone H3. Interacts with PHC2 (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 CBX8 Gene

neXtProt entry for CBX8 Gene

Protein Expression for CBX8 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for CBX8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CBX8 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for CBX8 Gene

Domains & Families for CBX8 Gene

Gene Families for CBX8 Gene

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

Protein Domains for CBX8 Gene

InterPro:
Blocks:
  • Chromo domain

Suggested Antigen Peptide Sequences for CBX8 Gene

GenScript: Design optimal peptide antigens:
  • Rectachrome 1 (CBX8_HUMAN)
  • NADH dehydrogenase subunit 3 homolog/ND3 homolog (Q9P2Z1_HUMAN)
genes like me logo Genes that share domains with CBX8: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for CBX8 Gene

Function for CBX8 Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for CBX8 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. 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.

Phenotypes From GWAS Catalog for CBX8 Gene

Gene Ontology (GO) - Molecular Function for CBX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003727 single-stranded RNA binding IEA --
GO:0005515 protein binding IPI 16169070
GO:0035064 methylated histone binding IDA 21029866
GO:0097027 ubiquitin-protein transferase activator activity IEA --
genes like me logo Genes that share ontologies with CBX8: view
genes like me logo Genes that share phenotypes with CBX8: view

Animal Models for CBX8 Gene

MGI Knock Outs for CBX8:
  • Cbx8 Cbx8<tm1.1Hko>

Animal Models for research

miRNA for CBX8 Gene

miRTarBase miRNAs that target CBX8

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBX8

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for CBX8 Gene

Localization for CBX8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CBX8 Gene

Nucleus.

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 CBX8 gene
Compartment Confidence
nucleus 5
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CBX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000151 ubiquitin ligase complex IEA --
GO:0000785 chromatin IDA 19636380
GO:0000792 heterochromatin IEA --
GO:0005634 nucleus IEA,IDA 21282530
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with CBX8: view

Pathways & Interactions for CBX8 Gene

genes like me logo Genes that share pathways with CBX8: view

Pathways by source for CBX8 Gene

1 Cell Signaling Technology pathway for CBX8 Gene

Gene Ontology (GO) - Biological Process for CBX8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IMP 19636380
GO:0006325 chromatin organization IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0016574 histone ubiquitination IEA --
GO:0032967 positive regulation of collagen biosynthetic process IEA --
genes like me logo Genes that share ontologies with CBX8: view

No data available for SIGNOR curated interactions for CBX8 Gene

Drugs & Compounds for CBX8 Gene

Products:

  1. Drug products for research
No Compound Related Data Available

Transcripts for CBX8 Gene

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  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for CBX8 Gene

1 REFSEQ mRNAs :
6 NCBI additional mRNA sequence :
4 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for CBX8

Alternative Splicing Database (ASD) splice patterns (SP) for CBX8 Gene

No ASD Table

Relevant External Links for CBX8 Gene

GeneLoc Exon Structure for
CBX8

Expression for CBX8 Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for CBX8 Gene

mRNA expression in normal human tissues for CBX8 Gene
mRNA expression by BioGPS for CBX8 GenemRNA expression by GTEx for CBX8 Gene

Protein differential expression in normal tissues from HIPED for CBX8 Gene

This gene is overexpressed in Retina (28.7), Fetal Brain (8.2), and Pancreas (6.2).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for CBX8 Gene



Protein tissue co-expression partners for CBX8 Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for CBX8

SOURCE GeneReport for Unigene cluster for CBX8 Gene:

Hs.387258

Evidence on tissue expression from TISSUES for CBX8 Gene

  • Liver(4.4)
  • Muscle(4.3)
  • Lung(4.3)
  • Blood(2.3)
  • Skin(2.3)
  • Nervous system(2.1)
  • Eye(2)
genes like me logo Genes that share expression patterns with CBX8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for CBX8 Gene

Orthologs for CBX8 Gene

This gene was present in the common ancestor of animals.

Orthologs for CBX8 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia CBX8 29 30
  • 97.24 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia CBX8 29 30
  • 89.39 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia CBX8 29 30
  • 89.36 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Cbx8 29 16 30
  • 87.11 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Cbx8 29
  • 86.61 (n)
Platypus
(Ornithorhynchus anatinus)
 Mammalia CBX8 30
  • 80 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves CBX8 29 30
  • 71.41 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia CBX8 30
  • 69 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia cbx8 29
  • 65.15 (n)
Zebrafish
(Danio rerio)
 Actinopterygii LOC100535436 29
  • 66.92 (n)
cbx8a 30 30
  • 45 (a)
 OneToMany
cbx8b 30
  • 45 (a)
 OneToMany
Dr.20034 29
Fruit Fly
(Drosophila melanogaster)
 Insecta Pc 30
  • 20 (a)
 OneToMany
Species where no ortholog for CBX8 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • 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)
  • Oppossum (Monodelphis domestica)
  • 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 CBX8 Gene

ENSEMBL:
Gene Tree for CBX8 (if available)
TreeFam:
Gene Tree for CBX8 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for CBX8: view image
Alliance of Genome Resources:
Additional Orthologs for CBX8

Paralogs for CBX8 Gene

Paralogs for CBX8 Gene

(4) SIMAP similar genes for CBX8 Gene using alignment to 3 proteins:

  • CBX8_HUMAN
  • C9J6K3_HUMAN
  • C9JM54_HUMAN
genes like me logo Genes that share paralogs with CBX8: view

Variants for CBX8 Gene

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  1. SNP Genotyping and Copy Number Assays for research

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for CBX8 Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
rs4889891 -- p.Gly317Val

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for CBX8 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for CBX8 Gene

Variant ID Type Subtype PubMed ID
dgv538n67 CNV gain 20364138
nsv469865 CNV loss 16826518
nsv828116 CNV loss 20364138

Variation tolerance for CBX8 Gene

Residual Variation Intolerance Score: 60.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.50; 29.24% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CBX8 Gene

Human Gene Mutation Database (HGMD)
CBX8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CBX8
Leiden Open Variation Database (LOVD)
CBX8

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CBX8 Gene

Disorders for CBX8 Gene

MalaCards: The human disease database

(4) MalaCards diseases for CBX8 Gene - From: COP

Disorder Aliases PubMed IDs
root caries
  • cementum caries
esophageal varix
  • bleeding esophageal varices
congenital bile acid synthesis defect
  • 3-beta-hydroxy-delta-5-c27-steroid oxidoreductase deficiency
hypochondriasis
  • hypochondria
- elite association - COSMIC cancer census association via MalaCards
Search CBX8 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for CBX8

Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with CBX8: view

No data available for UniProtKB/Swiss-Prot and Genatlas for CBX8 Gene

Publications for CBX8 Gene

  1. HPC3 is a new human polycomb orthologue that interacts and associates with RING1 and Bmi1 and has transcriptional repression properties. (PMID: 10825164) Bárdos JI … Freemont PS (The Journal of biological chemistry 2000) 2 3 4 22
  2. 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 22
  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. Recognition and specificity determinants of the human cbx chromodomains. (PMID: 21047797) Kaustov L … Arrowsmith CH (The Journal of biological chemistry 2011) 3 4
  5. Bypass of senescence by the polycomb group protein CBX8 through direct binding to the INK4A-ARF locus. (PMID: 17332741) Dietrich N … Hansen KH (The EMBO journal 2007) 3 22

ExternalLinks

View latest publications for CBX8 gene in Mastermind

Products for CBX8 Gene

  • Addgene plasmids for CBX8

Sources for CBX8 Gene