POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004] See more...

Aliases for POLE4 Gene

Aliases for POLE4 Gene

  • DNA Polymerase Epsilon 4, Accessory Subunit 2 3 5
  • Polymerase (DNA) Epsilon 4, Accessory Subunit 2 3
  • DNA Polymerase Epsilon Subunit P12 3 4
  • DNA Polymerase Epsilon Subunit 4 3 4
  • DNA Polymerase II Subunit 4 3 4
  • P12 2 3
  • Polymerase (DNA-Directed), Epsilon 4, Accessory Subunit 3
  • Polymerase (DNA-Directed), Epsilon 4 (P12 Subunit) 2
  • YHHQ1 3
  • POLE4 5

External Ids for POLE4 Gene

Previous GeneCards Identifiers for POLE4 Gene

  • GC02P075323
  • GC02P075143
  • GC02P075160
  • GC02P075097
  • GC02P075185
  • GC02P074922

Summaries for POLE4 Gene

Entrez Gene Summary for POLE4 Gene

  • POLE4 is a histone-fold protein that interacts with other histone-fold proteins to bind DNA in a sequence-independent manner. These histone-fold protein dimers combine within larger enzymatic complexes for DNA transcription, replication, and packaging.[supplied by OMIM, Apr 2004]

CIViC Summary for POLE4 Gene

GeneCards Summary for POLE4 Gene

POLE4 (DNA Polymerase Epsilon 4, Accessory Subunit) is a Protein Coding gene. Among its related pathways are Regulation of activated PAK-2p34 by proteasome mediated degradation and Transcription-Coupled Nucleotide Excision Repair (TC-NER). Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding and DNA-directed DNA polymerase activity. An important paralog of this gene is NFYC.

UniProtKB/Swiss-Prot Summary for POLE4 Gene

  • Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).

Additional gene information for POLE4 Gene

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POLE4 Gene

Genomics for POLE4 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POLE4 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
GH02J074958 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 600.7 +0.1 58 2.2 RNF2 GATAD2A HNRNPL ZNF629 TFE3 ZNF512 LEF1 NFKBIZ ZNF692 POLR2A ENSG00000236209 HSALNG0016108 LOC105374809 POLE4 LINC01291 WBP1 PCGF1 INO80B ENSG00000271452 HTRA2
GH02J074887 Enhancer 1.1 FANTOM5 Ensembl ENCODE dbSUPER 6 -70.6 -70626 2 JUND RBM22 FOSL2 SAP130 CTCF RAD21 SSRP1 FOS POLE4 HK2 LINC01291 HG983792 piR-48646
GH02J074892 Enhancer 0.9 Ensembl ENCODE dbSUPER 5 -64.2 -64242 4.8 POLR2A JUND EGR1 CEBPB FOS RBM22 FOSL2 JUN SEMA4F M1AP LINC01291 POLE4 HG983792 piR-48646 HK2
GH02J074881 Enhancer 0.6 Ensembl dbSUPER 4.5 -74.9 -74942 1 RBM22 SPI1 POLR2A MAX POLE4 piR-48646 HG983792 HK2
GH02J074939 Enhancer 1.1 Ensembl ENCODE 0.4 -18.7 -18653 1.9 GATAD2A TFE3 LEF1 SOX13 NFKBIZ RCOR2 RXRB IRF2 GABPA SOX6 LINC01293 LINC01291 ENSG00000236209 POLE4 LOC105374809 HK2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POLE4 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POLE4

Top Transcription factor binding sites by QIAGEN in the POLE4 gene promoter:
  • CP2
  • GATA-1
  • Lmo2
  • Pax-5
  • PPAR-gamma1
  • PPAR-gamma2
  • TGIF
  • XBP-1
  • YY1

Genomic Locations for POLE4 Gene

Genomic Locations for POLE4 Gene
chr2:74,958,643-74,970,128
(GRCh38/hg38)
Size:
11,486 bases
Orientation:
Plus strand
chr2:75,185,619-75,197,255
(GRCh37/hg19)
Size:
11,637 bases
Orientation:
Plus strand

Genomic View for POLE4 Gene

Genes around POLE4 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POLE4 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POLE4 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POLE4 Gene

Proteins for POLE4 Gene

  • Protein details for POLE4 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9NR33-DPOE4_HUMAN
    Recommended name:
    DNA polymerase epsilon subunit 4
    Protein Accession:
    Q9NR33
    Secondary Accessions:
    • Q53TR2

    Protein attributes for POLE4 Gene

    Size:
    117 amino acids
    Molecular mass:
    12209 Da
    Quaternary structure:
    • Component of the DNA polymerase epsilon complex consisting of four subunits: the catalytic subunit POLE and the accessory subunits POLE2, POLE3 and POLE4. Interaction with POLE3 is a prerequisite for further binding with POLE and POLE2.

neXtProt entry for POLE4 Gene

Post-translational modifications for POLE4 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POLE4 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POLE4 Gene

Domains & Families for POLE4 Gene

Gene Families for POLE4 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins

Protein Domains for POLE4 Gene

InterPro:
Blocks:
  • Transcription factor CBF/NF-Y/archaeal histone
ProtoNet:

Suggested Antigen Peptide Sequences for POLE4 Gene

GenScript: Design optimal peptide antigens:
  • DNA polymerase epsilon subunit p12 (DPOE4_HUMAN)
genes like me logo Genes that share domains with POLE4: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for POLE4 Gene

Function for POLE4 Gene

Molecular function for POLE4 Gene

UniProtKB/Swiss-Prot Function:
Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).

Phenotypes From GWAS Catalog for POLE4 Gene

Gene Ontology (GO) - Molecular Function for POLE4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003677 DNA binding IEA --
GO:0003887 DNA-directed DNA polymerase activity TAS 10801849
GO:0005515 protein binding IPI 10801849
GO:0046982 protein heterodimerization activity IEA --
genes like me logo Genes that share ontologies with POLE4: view
genes like me logo Genes that share phenotypes with POLE4: view

Animal Models for POLE4 Gene

MGI Knock Outs for POLE4:
  • Pole4 Pole4<tm1(KOMP)Vlcg>

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLE4

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POLE4 Gene

Localization for POLE4 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POLE4 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 POLE4 gene
Compartment Confidence
nucleus 5
cytosol 3
extracellular 1
mitochondrion 1

Subcellular locations from the

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

Gene Ontology (GO) - Cellular Components for POLE4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus TAS --
GO:0005654 nucleoplasm TAS --
GO:0005671 Ada2/Gcn5/Ada3 transcription activator complex IDA 18838386
GO:0008622 epsilon DNA polymerase complex IBA,IDA 10801849
genes like me logo Genes that share ontologies with POLE4: view

Pathways & Interactions for POLE4 Gene

PathCards logo

SuperPathways for POLE4 Gene

SuperPathway Contained pathways
1 Telomere C-strand (Lagging Strand) Synthesis
.48
2 Regulation of activated PAK-2p34 by proteasome mediated degradation
.78
3 Transcription-Coupled Nucleotide Excision Repair (TC-NER)
4 DNA Double-Strand Break Repair
5 Translesion synthesis by Y family DNA polymerases bypasses lesions on DNA template
genes like me logo Genes that share pathways with POLE4: view

Pathways by source for POLE4 Gene

1 GeneGo (Thomson Reuters) pathway for POLE4 Gene
  • Cell cycle Transition and termination of DNA replication
2 Qiagen pathways for POLE4 Gene
  • Cell Cycle Control of Chromosomal Replication
  • DNA Repair Mechanisms

Gene Ontology (GO) - Biological Process for POLE4 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000082 G1/S transition of mitotic cell cycle TAS --
GO:0006270 DNA replication initiation TAS --
GO:0032201 telomere maintenance via semi-conservative replication TAS --
GO:0071897 DNA biosynthetic process IEA --
genes like me logo Genes that share ontologies with POLE4: view

No data available for SIGNOR curated interactions for POLE4 Gene

Drugs & Compounds for POLE4 Gene

(6) Drugs for POLE4 Gene - From: DrugBank and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cladribine Approved, Investigational Pharma Target, inhibitor Apoptosis inducer in CLL cells 105
Phosphoric acid Approved Pharma 0
dATP Experimental Pharma Agonist, Full agonist 0
dctp Experimental Pharma 0
dgtp Experimental Pharma 0

(1) Additional Compounds for POLE4 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
pyrophosphate
  • [(ho)2P(O)OP(O)(OH)2]
  • Acide diphosphorique
  • Diphosphorsaeure
  • H4P2O7
  • PYROphosphATE
14000-31-8
genes like me logo Genes that share compounds with POLE4: view

Transcripts for POLE4 Gene

mRNA/cDNA for POLE4 Gene

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

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POLE4

Alternative Splicing Database (ASD) splice patterns (SP) for POLE4 Gene

No ASD Table

Relevant External Links for POLE4 Gene

GeneLoc Exon Structure for
POLE4

Expression for POLE4 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for POLE4 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for POLE4 Gene

This gene is overexpressed in Cerebrospinal fluid (33.1), Peripheral blood mononuclear cells (23.4), and Bone (7.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POLE4 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for POLE4

SOURCE GeneReport for Unigene cluster for POLE4 Gene:

Hs.469060

Evidence on tissue expression from TISSUES for POLE4 Gene

  • Liver(4.4)
  • Skin(4.4)
  • Intestine(2.2)
  • Nervous system(2.1)
genes like me logo Genes that share expression patterns with POLE4: view

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for POLE4 Gene

Orthologs for POLE4 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for POLE4 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia POLE4 30 31
  • 98.53 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia POLE4 30 31
  • 89.47 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia POLE4 30 31
  • 89.21 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Pole4 30 17 31
  • 86.61 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pole4 30
  • 86.32 (n)
Oppossum
(Monodelphis domestica)
Mammalia POLE4 31
  • 81 (a)
OneToOne
Platypus
(Ornithorhynchus anatinus)
Mammalia POLE4 31
  • 71 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia pole4 30
  • 60.32 (n)
Str.17248 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.7362 30
Zebrafish
(Danio rerio)
Actinopterygii zgc:110337 30
  • 63.33 (n)
POLE4 31
  • 40 (a)
OneToOne
Dr.14836 30
Rainbow Trout
(Oncorhynchus mykiss)
Actinopterygii Omy.12504 30
Fruit Fly
(Drosophila melanogaster)
Insecta Mes4 31
  • 27 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea Y53F4B.3 31
  • 22 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes HAP5 31
  • 14 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 43 (a)
OneToOne
Species where no ortholog for POLE4 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • 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)
  • 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)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • 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 POLE4 Gene

ENSEMBL:
Gene Tree for POLE4 (if available)
TreeFam:
Gene Tree for POLE4 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POLE4: view image

Paralogs for POLE4 Gene

Paralogs for POLE4 Gene

(2) SIMAP similar genes for POLE4 Gene using alignment to 1 proteins:

  • DPOE4_HUMAN

Pseudogenes.org Pseudogenes for POLE4 Gene

genes like me logo Genes that share paralogs with POLE4: view

Variants for POLE4 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POLE4 Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
774287 Benign: not provided 74,958,847(+) G/A SYNONYMOUS_VARIANT
rs12366 - p.Gly17Val

Additional dbSNP identifiers (rs#s) for POLE4 Gene

Structural Variations from Database of Genomic Variants (DGV) for POLE4 Gene

Variant ID Type Subtype PubMed ID
dgv3872n100 CNV gain 25217958
esv2751900 CNV gain 17911159
esv3575258 CNV gain 25503493
nsv1001495 CNV gain 25217958
nsv526995 CNV gain 19592680
nsv582217 CNV gain 21841781
nsv834262 CNV gain 17160897
nsv998145 CNV loss 25217958

Variation tolerance for POLE4 Gene

Gene Damage Index Score: 9.38; 88.46% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POLE4 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POLE4

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POLE4 Gene

Disorders for POLE4 Gene

No disorders were found for POLE4 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for POLE4 Gene

Publications for POLE4 Gene

  1. Identification and cloning of two histone fold motif-containing subunits of HeLa DNA polymerase epsilon. (PMID: 10801849) Li Y … Linn S (The Journal of biological chemistry 2000) 2 3 4
  2. Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PMID: 15815621) Hillier LW … Wilson RK (Nature 2005) 3 4
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4
  4. A reference map of the human binary protein interactome. (PMID: 32296183) Luck K … Calderwood MA (Nature 2020) 3
  5. Regulation of ETAA1-mediated ATR activation couples DNA replication fidelity and genome stability. (PMID: 31615875) Achuthankutty D … Mailand N (The Journal of cell biology 2019) 3

Products for POLE4 Gene

Sources for POLE4 Gene