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Aliases for EPOP Gene

Aliases for EPOP Gene

  • Elongin BC And Polycomb Repressive Complex 2 Associated Protein 2 3 5
  • Proline-Rich Protein 28 3 4
  • Proline Rich 28 2 3
  • C17orf96 3 4
  • PRR28 3 4
  • Elongin BC And Polycomb Repressive Complex 2-Associated Protein 3
  • Chromosome 17 Open Reading Frame 96 2
  • Uncharacterized Protein C17orf96 3

External Ids for EPOP Gene

Previous HGNC Symbols for EPOP Gene

  • C17orf96

Summaries for EPOP Gene

GeneCards Summary for EPOP Gene

EPOP (Elongin BC And Polycomb Repressive Complex 2 Associated Protein) is a Protein Coding gene. An important paralog of this gene is SKIDA1.

UniProtKB/Swiss-Prot for EPOP Gene

  • Scaffold protein that serves as a bridging partner between the PRC2/EED-EZH2 complex and the elongin BC complex: required to fine-tune the transcriptional status of Polycomb group (PcG) target genes in embryonic stem cells (ESCs). Plays a key role in genomic regions that display both active and repressive chromatin properties in pluripotent stem cells by sustaining low level expression at PcG target genes: acts by recruiting the elongin BC complex, thereby restricting excessive activity of the PRC2/EED-EZH2 complex. Interaction with USP7 promotes deubiquitination of H2B at promoter sites. Acts as a regulator of neuronal differentiation.

Additional gene information for EPOP Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPOP Gene

Genomics for EPOP Gene

Regulatory Elements for EPOP Gene

Enhancers for EPOP 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
GH17H038414 2 FANTOM5 Ensembl ENCODE dbSUPER 1.7 +259.9 259929 2 PKNOX1 ARNT ARID4B FEZF1 DMAP1 ZNF2 ZNF302 ZNF416 ZNF143 FOS LOC105371762 LINC02079 GPR179 RPL19 FBXL20 EPOP GC17M038417 GC17M038418 PIR32801 GC17P038485
GH17H038657 1.5 FANTOM5 ENCODE dbSUPER 2 +17.6 17647 1 FOXA2 MLX ARID4B DMAP1 SP5 MXD4 PPARG KAT8 SREBF1 NFIL3 EPOP ARHGAP23 SRCIN1 GC17M038673 GC17M038636
GH17H038677 1.3 Ensembl ENCODE 0.7 -1.8 -1781 0 PKNOX1 ATF1 ARNT ARID4B SIN3A FEZF1 DMAP1 GATA2 ZNF143 ZNF207 MLLT6 PCGF2 CISD3 PSMB3 PIP4K2B CWC25 EPOP GC17M038684
GH17H038674 1.1 ENCODE 0.7 +0.7 699 1 MLX ZFP64 ARID4B SIN3A DMAP1 ZNF2 SLC30A9 ZNF143 SP3 SP5 PCGF2 PIP4K2B MLLT6 CISD3 PSMB3 CWC25 EPOP GC17M038673
GH17H038693 1.2 Ensembl ENCODE dbSUPER 0.4 -18.5 -18527 1 MAX DMAP1 RAD21 YY1 ZNF600 RCOR1 SCRT1 RNF2 NFIA SP5 GC17M038684 EPOP
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPOP on UCSC Golden Path with GeneCards custom track

Promoters for EPOP Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000093796 821 1201 MLX ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 SLC30A9 ZNF143 SP3

Genomic Location for EPOP Gene

Chromosome:
17
Start:
38,671,703 bp from pter
End:
38,675,421 bp from pter
Size:
3,719 bases
Orientation:
Minus strand

Genomic View for EPOP Gene

Genes around EPOP on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for EPOP Gene

Proteins for EPOP Gene

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

    Protein Symbol:
    A6NHQ4-EPOP_HUMAN
    Recommended name:
    Elongin BC and Polycomb repressive complex 2-associated protein
    Protein Accession:
    A6NHQ4

    Protein attributes for EPOP Gene

    Size:
    379 amino acids
    Molecular mass:
    39322 Da
    Quaternary structure:
    • Associates with the PRC2/EED-EZH2 complex (PubMed:24550272). Associates with the elongin BC complex (By similarity). Interacts with USP7 (By similarity).

neXtProt entry for EPOP Gene

Post-translational modifications for EPOP Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EPOP Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for EPOP Gene

Domains & Families for EPOP Gene

Gene Families for EPOP Gene

Human Protein Atlas (HPA):
  • Predicted intracellular proteins

Protein Domains for EPOP Gene

InterPro:
ProtoNet:

Graphical View of Domain Structure for InterPro Entry

A6NHQ4

UniProtKB/Swiss-Prot:

EPOP_HUMAN :
  • The BC-box, which mediates binding to the elongin BC complex.
Domain:
  • The BC-box, which mediates binding to the elongin BC complex.
genes like me logo Genes that share domains with EPOP: view

No data available for Suggested Antigen Peptide Sequences for EPOP Gene

Function for EPOP Gene

Molecular function for EPOP Gene

UniProtKB/Swiss-Prot Function:
Scaffold protein that serves as a bridging partner between the PRC2/EED-EZH2 complex and the elongin BC complex: required to fine-tune the transcriptional status of Polycomb group (PcG) target genes in embryonic stem cells (ESCs). Plays a key role in genomic regions that display both active and repressive chromatin properties in pluripotent stem cells by sustaining low level expression at PcG target genes: acts by recruiting the elongin BC complex, thereby restricting excessive activity of the PRC2/EED-EZH2 complex. Interaction with USP7 promotes deubiquitination of H2B at promoter sites. Acts as a regulator of neuronal differentiation.

Gene Ontology (GO) - Molecular Function for EPOP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003682 chromatin binding ISS --
genes like me logo Genes that share ontologies with EPOP: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EPOP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Phenotypes , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for EPOP Gene

Localization for EPOP Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPOP Gene

Nucleus. Chromosome. Note=Localizes at both PRC2/EED-EZH2 sites (H3K27me3) and broad H3K4me3 sites on chromatin of embryonic stem cells (ESCs). {ECO:0000250 UniProtKB:Q7TNS8}.

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 EPOP gene
Compartment Confidence
nucleus 4
mitochondrion 2
cytosol 2
endoplasmic reticulum 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoplasm (3)
  • Cytoplasmic bodies (2)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for EPOP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IEA --
GO:0005694 chromosome IEA --
GO:0035098 colocalizes_with ESC/E(Z) complex IEA,ISS --
GO:0070449 colocalizes_with elongin complex IEA,ISS --
genes like me logo Genes that share ontologies with EPOP: view

Pathways & Interactions for EPOP Gene

No Data Available

Interacting Proteins for EPOP Gene

Gene Ontology (GO) - Biological Process for EPOP Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA,ISS --
GO:0035616 histone H2B conserved C-terminal lysine deubiquitination IEA,ISS --
GO:0048663 neuron fate commitment IEA,IBA --
GO:0048863 stem cell differentiation ISS,IEA --
genes like me logo Genes that share ontologies with EPOP: view

No data available for Pathways by source and SIGNOR curated interactions for EPOP Gene

Drugs & Compounds for EPOP Gene

No Compound Related Data Available

Transcripts for EPOP Gene

mRNA/cDNA for EPOP Gene

(1) REFSEQ mRNAs :
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for EPOP
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

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

No ASD Table

Relevant External Links for EPOP Gene

GeneLoc Exon Structure for
EPOP
ECgene alternative splicing isoforms for
EPOP

Expression for EPOP Gene

NURSA nuclear receptor signaling pathways regulating expression of EPOP Gene:

EPOP
No Expression Related Data Available

Primer Products

No data available for mRNA expression in normal human tissues , mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for EPOP Gene

Orthologs for EPOP Gene

This gene was present in the common ancestor of mammals.

Orthologs for EPOP Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia C17H17orf96 33
  • 98.94 (n)
dog
(Canis familiaris)
Mammalia C9H17orf96 33
  • 88.01 (n)
cow
(Bos Taurus)
Mammalia C19H17orf96 33
  • 86.6 (n)
rat
(Rattus norvegicus)
Mammalia LOC691153 33
  • 81.17 (n)
mouse
(Mus musculus)
Mammalia E130012A19Rik 33
  • 80.8 (n)
Epop 16
Species where no ortholog for EPOP was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya 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)
  • chicken (Gallus gallus)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • 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)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)
  • zebrafish (Danio rerio)

Evolution for EPOP Gene

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

Paralogs for EPOP Gene

Paralogs for EPOP Gene

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

Variants for EPOP Gene

Sequence variations from dbSNP and Humsavar for EPOP Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type
rs1000118139 -- 38,674,011(+) GACCC(C/G)GGGCC reference, missense
rs1000700633 -- 38,675,536(+) AGTGT(A/T)ATTAC upstream-variant-2KB
rs1000976911 -- 38,675,173(+) GATGC(G/T)CCGCC upstream-variant-2KB
rs1001463769 -- 38,671,650(+) TGCCC(A/C)CCCAC downstream-variant-500B
rs1001530153 -- 38,675,182(+) CCGCA(C/T)GTGGC upstream-variant-2KB

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

Variant ID Type Subtype PubMed ID
nsv1070830 CNV deletion 25765185
nsv1146669 OTHER inversion 26484159
nsv833438 CNV loss 17160897

Variation tolerance for EPOP Gene

Gene Damage Index Score: 9.54; 88.89% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPOP Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPOP

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

Disorders for EPOP Gene

Relevant External Links for EPOP

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPOP
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPOP

No disorders were found for EPOP Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for EPOP Gene

Publications for EPOP Gene

  1. Reciprocal interactions of human C10orf12 and C17orf96 with PRC2 revealed by BioTAP-XL cross-linking and affinity purification. (PMID: 24550272) Alekseyenko AA … Kuroda MI (Proceedings of the National Academy of Sciences of the United States of America 2014) 2 3 4 60
  2. EPOP Interacts with Elongin BC and USP7 to Modulate the Chromatin Landscape. (PMID: 27863226) Liefke R … Shi Y (Molecular cell 2016) 2 3 60
  3. EPOP Functionally Links Elongin and Polycomb in Pluripotent Stem Cells. (PMID: 27863225) Beringer M … Di Croce L (Molecular cell 2016) 2 3 60
  4. DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4 60
  5. Architecture of the human interactome defines protein communities and disease networks. (PMID: 28514442) Huttlin EL … Harper JW (Nature 2017) 3 60

Products for EPOP Gene

Sources for EPOP Gene

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