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Aliases for EPOP Gene
Aliases for EPOP Gene
External Ids for EPOP Gene
- HGNC: 34493
- Entrez Gene: 100170841
- Ensembl: ENSG00000273604
- OMIM: 617795
- UniProtKB: A6NHQ4
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. Diseases associated with EPOP include Kleefstra Syndrome 2 and Breast Apocrine Carcinoma. An important paralog of this gene is SKIDA1.
UniProtKB/Swiss-Prot Summary 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
- HGNC(34493)
- Entrez Gene(100170841)
- Ensembl(ENSG00000273604)
- OMIM(617795)
- UniProtKB(A6NHQ4)
- Open Targets Platform(ENSG00000273604)
- Search for EPOP at DataMed
- Search for EPOP at HumanCyc
No data available for Entrez Gene Summary , CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for EPOP Gene
Genomics for EPOP Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for EPOP Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around EPOP on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for EPOP
Genomic Locations for EPOP Gene
Genomic Locations for EPOP Gene
- chr17:38,671,703-38,674,957
- (GRCh38/hg38)
- Size:
- 3,255 bases
- Orientation:
- Minus strand
- chr17:36,827,956-36,831,187
- (GRCh37/hg19)
- Size:
- 3,232 bases
- Orientation:
- Minus strand
Genomic View for EPOP Gene
Genes around EPOP on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 17q12 by HGNC
- 17q12 by Entrez Gene
- 17q12 by Ensembl
EPOP Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene 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).
Post-translational modifications for EPOP Gene
Other Protein References for EPOP Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- Novus Biologicals Antibodies for EPOP
- Invitrogen Antibodies for EPOP (AFLGC-EPOP)
- antibodies-online: Show 6 available C17ORF96 Antibodies ranked by validation data
- Sino Biological Antibodies for EPOP
Protein Products
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for EPOP
- Origene Custom Protein Services for EPOP
- Novus Biologicals proteins for EPOP
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
Graphical View of Domain Structure for InterPro Entry
A6NHQ4- Domain:
-
- The BC-box, which mediates binding to the elongin BC complex.
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.
Phenotypes From GWAS Catalog for EPOP Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0003682 | chromatin binding | IEA,ISS | -- |
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EPOP - Select products 50% OFF >
- * EPOP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EPOP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPOP
miRNA for EPOP Gene
- miRTarBase miRNAs that target EPOP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPOP
- Browse OriGene Inhibitory RNA Products For EPOP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPOP
Clone Products
- Applied Biological Materials (abm): Clones for EPOP - Select products 50% OFF >
- * EPOP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for EPOP
- Addgene plasmids for EPOP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPOP
Cell Line Products
-
Horizon Cell Lines for EPOP
No data available for Enzyme Numbers (IUBMB) , 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}.
| Compartment | Confidence |
|---|---|
| nucleus | 4 |
| mitochondrion | 2 |
| cytosol | 2 |
| endoplasmic reticulum | 1 |
- Nucleoplasm (3)
- Cytoplasmic bodies (2)
- Cytosol (2)
| 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 | -- |
Pathways & Interactions for EPOP Gene
Interacting Proteins for EPOP Gene
GPS-Prot Interaction Network for EPOP
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0006357 | regulation of transcription by RNA polymerase II | IEA,ISS | -- |
| GO:0035616 | histone H2B conserved C-terminal lysine deubiquitination | IEA,ISS | -- |
| GO:0048663 | neuron fate commitment | IBA | 21873635 |
| GO:0048863 | stem cell differentiation | IEA,ISS | -- |
No data available for Pathways by source and SIGNOR curated interactions for EPOP Gene
Transcripts for EPOP Gene
mRNA/cDNA for EPOP Gene
- 1 REFSEQ mRNAs :
- 1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000621654 3255 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for EPOP - Select products 50% OFF >
- * EPOP CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for EPOP
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPOP
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPOP
- Browse OriGene Inhibitory RNA Products For EPOP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPOP
Clone Products
- Applied Biological Materials (abm): Clones for EPOP - Select products 50% OFF >
- * EPOP as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for EPOP
- Addgene plasmids for EPOP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPOP
Relevant External Links for EPOP Gene
- GeneLoc Exon Structure for
- EPOP
Expression for EPOP Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for EPOP
No Expression Related Data Available
Primer Products
-
OriGene qPCR primer pairs for EPOP
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.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | C17H17orf96 30 |
|
||
| Dog (Canis familiaris) |
Mammalia | C9H17orf96 30 |
|
||
| Cow (Bos Taurus) |
Mammalia | C19H17orf96 30 |
|
||
| Rat (Rattus norvegicus) |
Mammalia | LOC691153 30 |
|
||
| Mouse (Mus musculus) |
Mammalia | E130012A19Rik 30 |
|
||
| Epop 17 |
|
- Species where no ortholog for EPOP 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)
- 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 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)
- Tropical Clawed Frog (Silurana tropicalis)
- Wheat (Triticum aestivum)
- Worm (Caenorhabditis elegans)
- Zebrafish (Danio rerio)
Paralogs for EPOP Gene
Variants for EPOP Gene
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1070830 | CNV | deletion | 25765185 |
| nsv1146669 | OTHER | inversion | 26484159 |
| nsv833438 | CNV | loss | 17160897 |
Gene Damage Index Score:
9.54;
88.89% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for EPOP Gene
- SNPedia medical, phenotypic, and genealogical associations of SNPs for
- EPOP
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot and Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for EPOP Gene
Disorders for EPOP Gene
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| kleefstra syndrome 2 |
|
|
| breast apocrine carcinoma |
|
|
Search EPOP in MalaCards
View complete list of genes associated with diseases
Additional Disease Information for EPOP
No data available for UniProtKB/Swiss-Prot and Genatlas for EPOP Gene
Publications for EPOP Gene
- 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
- EPOP Functionally Links Elongin and Polycomb in Pluripotent Stem Cells. (PMID: 27863225) Beringer M … Di Croce L (Molecular cell 2016) 2 3
- EPOP Interacts with Elongin BC and USP7 to Modulate the Chromatin Landscape. (PMID: 27863226) Liefke R … Shi Y (Molecular cell 2016) 2 3
- DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. (PMID: 16625196) Zody MC … Nusbaum C (Nature 2006) 3 4
- H4K20me0 recognition by BRCA1-BARD1 directs homologous recombination to sister chromatids. (PMID: 30804502) Nakamura K … Groth A (Nature cell biology 2019) 3
ExternalLinks
Products for EPOP Gene
- Browse OriGene Antibodies
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- Search Origene for Purified Proteins, MassSpec and Protein Over-expression Lysates for EPOP
- Origene Custom Protein Services for EPOP
- Origene shrna, sirna, and RNAi products in human, mouse, rat for EPOP
- Browse OriGene Inhibitory RNA Products For EPOP
- OriGene qPCR primer pairs for EPOP
- OriGene CRISPR knockouts for EPOP
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For EPOP
- Sino Biological Human cDNA Clone for EPOP
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for EPOP
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for EPOP
- Novus Biologicals proteins for EPOP
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Invitrogen Antibodies for EPOP (AFLGC-EPOP)
- VectorBuilder Custom and pre-made DNA vectors for EPOP (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for EPOP (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for EPOP (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for EPOP CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for EPOP
- Addgene plasmids for EPOP
- antibodies-online: Show 6 available C17ORF96 Antibodies ranked by validation data
- antibodies-online: Search results for available C17ORF96 related products ranked by validation data
- antibodies-online: Search results for available C17ORF96 related products ranked by validation data
- Horizon Cell Lines for EPOP
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for EPOP
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for EPOP
- Search GeneCopoeia for miRNA 3'UTR Target clone products for EPOP
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for EPOP
Sources for EPOP Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB