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Aliases for EPC2 Gene

Aliases for EPC2 Gene

  • Enhancer Of Polycomb Homolog 2 2 3 5
  • EPC-LIKE 3 4
  • Enhancer Of Polycomb Homolog 2 (Drosophila) 2

External Ids for EPC2 Gene

Previous GeneCards Identifiers for EPC2 Gene

  • GC02P149614
  • GC02P149236
  • GC02P149118
  • GC02P149402
  • GC02P141400

Summaries for EPC2 Gene

GeneCards Summary for EPC2 Gene

EPC2 (Enhancer Of Polycomb Homolog 2) is a Protein Coding gene. Diseases associated with EPC2 include Lymph Node Tuberculosis and Mowat-Wilson Syndrome. An important paralog of this gene is EPC1.

UniProtKB/Swiss-Prot for EPC2 Gene

  • May play a role in transcription or DNA repair.

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for EPC2 Gene

Genomics for EPC2 Gene

Regulatory Elements for EPC2 Gene

Enhancers for EPC2 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
GH02G148613 1.5 FANTOM5 Ensembl ENCODE 14.9 -29.6 -29558 2.7 PKNOX1 ATF1 FEZF1 FOS JUNB MEF2D MAFF SMARCA4 PBX2 GLIS1 EPC2 LOC101928553 GC02P148613 GC02M148622
GH02G148552 1.1 Ensembl ENCODE dbSUPER 11.4 -91.2 -91240 1.2 ESRRA IRF2 RNF2 ID3 MNT IRF1 ZNF83 EPC2 GC02M148556 GC02M148522
GH02G148527 0.9 Ensembl ENCODE dbSUPER 11.4 -116.2 -116216 1.3 ZBTB40 EPC2 GC02M148522 GC02M148556
GH02G148259 0.9 FANTOM5 10.7 -384.6 -384615 0.3 ELF3 CBX3 RB1 RAD21 CHAMP1 CBX5 ZNF143 ZNF654 CEBPZ CEBPB EPC2 ENSG00000212181 GC02M148261 GC02M148193
GH02G148607 0.7 ENCODE 11.5 -36.6 -36614 0.2 STAT1 FOXA2 RFX1 NFIB DPF2 FOXA1 ZNF664 MCM7 CTBP1 GATA3 EPC2 GC02P148606 GC02P148613
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around EPC2 on UCSC Golden Path with GeneCards custom track

Promoters for EPC2 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000124295 860 2601 HDGF HNRNPUL1 PKNOX1 FOXA2 CREB3L1 ARNT AGO1 ZFP64 ARID4B SIN3A

Genomic Location for EPC2 Gene

Chromosome:
2
Start:
148,644,440 bp from pter
End:
148,788,491 bp from pter
Size:
144,052 bases
Orientation:
Plus strand

Genomic View for EPC2 Gene

Genes around EPC2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
EPC2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for EPC2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for EPC2 Gene

Proteins for EPC2 Gene

  • Protein details for EPC2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q52LR7-EPC2_HUMAN
    Recommended name:
    Enhancer of polycomb homolog 2
    Protein Accession:
    Q52LR7
    Secondary Accessions:
    • B3KWT7
    • D3DP89
    • Q7L9J1
    • Q96RR7
    • Q9NUT8
    • Q9NVR1
    • Q9UFM9

    Protein attributes for EPC2 Gene

    Size:
    807 amino acids
    Molecular mass:
    91095 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAH93818.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAH93820.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=AAK60500.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA91688.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA92032.1; Type=Erroneous initiation; Evidence={ECO:0000305};

neXtProt entry for EPC2 Gene

Post-translational modifications for EPC2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for EPC2 Gene

No data available for DME Specific Peptides for EPC2 Gene

Domains & Families for EPC2 Gene

Protein Domains for EPC2 Gene

Suggested Antigen Peptide Sequences for EPC2 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q52LR7

UniProtKB/Swiss-Prot:

EPC2_HUMAN :
  • Belongs to the enhancer of polycomb family.
Family:
  • Belongs to the enhancer of polycomb family.
genes like me logo Genes that share domains with EPC2: view

No data available for Gene Families for EPC2 Gene

Function for EPC2 Gene

Molecular function for EPC2 Gene

UniProtKB/Swiss-Prot Function:
May play a role in transcription or DNA repair.
genes like me logo Genes that share phenotypes with EPC2: view

Animal Models for EPC2 Gene

MGI Knock Outs for EPC2:
  • Epc2 tm1b(EUCOMM)Wtsi
  • Epc2 tm1a(EUCOMM)Wtsi

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Gene Ontology (GO) - Molecular Function , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for EPC2 Gene

Localization for EPC2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for EPC2 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 EPC2 gene
Compartment Confidence
nucleus 5
cytosol 2
extracellular 1
cytoskeleton 1

Gene Ontology (GO) - Cellular Components for EPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0032777 Piccolo NuA4 histone acetyltransferase complex IEA --
GO:0035267 NuA4 histone acetyltransferase complex IEA --
genes like me logo Genes that share ontologies with EPC2: view

Pathways & Interactions for EPC2 Gene

No Data Available

Gene Ontology (GO) - Biological Process for EPC2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006281 DNA repair IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0006357 regulation of transcription from RNA polymerase II promoter IEA --
GO:0006974 cellular response to DNA damage stimulus IEA --
genes like me logo Genes that share ontologies with EPC2: view

No data available for Pathways by source and SIGNOR curated interactions for EPC2 Gene

Drugs & Compounds for EPC2 Gene

No Compound Related Data Available

Transcripts for EPC2 Gene

Unigene Clusters for EPC2 Gene

Enhancer of polycomb homolog 2 (Drosophila):
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for EPC2 Gene

No ASD Table

Relevant External Links for EPC2 Gene

GeneLoc Exon Structure for
EPC2
ECgene alternative splicing isoforms for
EPC2

Expression for EPC2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for EPC2 Gene

Protein differential expression in normal tissues from HIPED for EPC2 Gene

This gene is overexpressed in Peripheral blood mononuclear cells (47.1), CD8 Tcells (9.7), and Retina (6.5).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for EPC2 Gene



Protein tissue co-expression partners for EPC2 Gene

NURSA nuclear receptor signaling pathways regulating expression of EPC2 Gene:

EPC2

SOURCE GeneReport for Unigene cluster for EPC2 Gene:

Hs.23270

Evidence on tissue expression from TISSUES for EPC2 Gene

  • Nervous system(4.4)
  • Kidney(4.2)
  • Liver(4.2)
  • Bone marrow(2.1)
genes like me logo Genes that share expression patterns with EPC2: view

Primer Products

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 EPC2 Gene

Orthologs for EPC2 Gene

This gene was present in the common ancestor of animals.

Orthologs for EPC2 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia EPC2 34 35
  • 99.8 (n)
dog
(Canis familiaris)
Mammalia EPC2 34 35
  • 97.42 (n)
oppossum
(Monodelphis domestica)
Mammalia EPC2 35
  • 97 (a)
OneToOne
cow
(Bos Taurus)
Mammalia EPC2 34 35
  • 96.7 (n)
mouse
(Mus musculus)
Mammalia Epc2 34 16 35
  • 94.47 (n)
rat
(Rattus norvegicus)
Mammalia Epc2 34
  • 94.38 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia EPC2 35
  • 91 (a)
OneToOne
chicken
(Gallus gallus)
Aves EPC2 34 35
  • 88.06 (n)
lizard
(Anolis carolinensis)
Reptilia EPC2 35
  • 93 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia epc2 34
  • 81.03 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.19469 34
zebrafish
(Danio rerio)
Actinopterygii epc2 34 35
  • 64.21 (n)
zgc55784 34
fruit fly
(Drosophila melanogaster)
Insecta E(Pc) 35
  • 12 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea epc-1 35
  • 21 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 31 (a)
OneToMany
Species where no ortholog for EPC2 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 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)

Evolution for EPC2 Gene

ENSEMBL:
Gene Tree for EPC2 (if available)
TreeFam:
Gene Tree for EPC2 (if available)

Paralogs for EPC2 Gene

Paralogs for EPC2 Gene

(3) SIMAP similar genes for EPC2 Gene using alignment to 5 proteins:

genes like me logo Genes that share paralogs with EPC2: view

Variants for EPC2 Gene

Sequence variations from dbSNP and Humsavar for EPC2 Gene

SNP ID Clin Chr 02 pos Sequence Context AA Info Type
rs1000010253 -- 148,750,373(+) GATGT(A/G)GGCAT intron-variant
rs1000022907 -- 148,710,093(+) AATCT(A/C)CTCAT intron-variant
rs1000056117 -- 148,662,009(+) AAGGA(C/T)ATGAA intron-variant
rs1000080929 -- 148,700,934(+) TTTTT(A/T)ATTTC intron-variant
rs1000100366 -- 148,671,473(+) GTCAG(G/T)CATGG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for EPC2 Gene

Variant ID Type Subtype PubMed ID
esv1388120 CNV insertion 17803354
esv2496316 CNV deletion 19546169
esv2619674 CNV deletion 19546169
esv2751831 CNV gain 17911159
esv3378945 CNV insertion 20981092
esv3383687 CNV insertion 20981092
nsv508873 CNV insertion 20534489
nsv955262 CNV duplication 24416366

Variation tolerance for EPC2 Gene

Residual Variation Intolerance Score: 12.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.16; 39.13% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for EPC2 Gene

Human Gene Mutation Database (HGMD)
EPC2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
EPC2

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for EPC2 Gene

Disorders for EPC2 Gene

MalaCards: The human disease database

(4) MalaCards diseases for EPC2 Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
lymph node tuberculosis
  • king's evil
mowat-wilson syndrome
  • hirschsprung disease mental retardation syndrome
peptic esophagitis
  • peptic reflux disease
esophagitis, eosinophilic, 1
  • eosinophilic esophagitis
- elite association - COSMIC cancer census association via MalaCards
Search EPC2 in MalaCards View complete list of genes associated with diseases

Relevant External Links for EPC2

Genetic Association Database (GAD)
EPC2
Human Genome Epidemiology (HuGE) Navigator
EPC2
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
EPC2
genes like me logo Genes that share disorders with EPC2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for EPC2 Gene

Publications for EPC2 Gene

  1. Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. (PMID: 21123754) Kim S. … Saykin A.J. (Neurology 2011) 3 46 64
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  3. A genome-wide association study identifies protein quantitative trait loci (pQTLs). (PMID: 18464913) Melzer D. … Ferrucci L. (PLoS Genet. 2008) 3 46 64
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T. … Sugano S. (Nat. Genet. 2004) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for EPC2 Gene

Sources for EPC2 Gene

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