Gene Gene information from NCBI Gene database.
Entrez ID 56655
Gene name DNA polymerase epsilon 4, accessory subunit
Gene symbol POLE4
Synonyms (NCBI Gene)
YHHQ1p12
Chromosome 2
Chromosome location 2p12
Summary 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.[su
miRNA miRNA information provided by mirtarbase database.
117
miRTarBase ID miRNA Experiments Reference
MIRT001520 hsa-miR-155-5p pSILAC 18668040
MIRT001520 hsa-miR-155-5p Proteomics;Other 18668040
MIRT025793 hsa-miR-7-5p Microarray 19073608
MIRT726910 hsa-miR-15a-5p HITS-CLIP 22473208
MIRT726909 hsa-miR-15b-5p HITS-CLIP 22473208
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
16
GO ID Ontology Definition Evidence Reference
GO:0003677 Function DNA binding IEA
GO:0003887 Function DNA-directed DNA polymerase activity TAS 10801849
GO:0005515 Function Protein binding IPI 10801849, 22190034, 25416956, 32296183, 33961781
GO:0005634 Component Nucleus IBA
GO:0005634 Component Nucleus IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
607269 18755 ENSG00000115350
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q9NR33
Protein name DNA polymerase epsilon subunit 4 (DNA polymerase II subunit 4) (DNA polymerase epsilon subunit p12)
Protein function Accessory component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in DNA repair and in chromosomal DNA replication (By similarity).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00808 CBFD_NFYB_HMF 39 103 Histone-like transcription factor (CBF/NF-Y) and archaeal histone Domain
Sequence
MAAAAAAGSGTPREEEGPAGEAAASQPQAPTSVPGARLSRLPLARVKALVKADPDVTLAG
QEAIFILARAAELFVETIAKDAYCCAQQGKRKTLQRRDLDNAI
EAVDEFAFLEGTLD
Sequence length 117
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  DNA replication
Base excision repair
Nucleotide excision repair
  Recognition of DNA damage by PCNA-containing replication complex
PCNA-Dependent Long Patch Base Excision Repair
Termination of translesion DNA synthesis
HDR through Homologous Recombination (HRR)
Gap-filling DNA repair synthesis and ligation in GG-NER
Dual Incision in GG-NER
Dual incision in TC-NER
Gap-filling DNA repair synthesis and ligation in TC-NER
DNA replication initiation
Activation of the pre-replicative complex
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
SKIN DISEASE GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
VENOUS THROMBOEMBOLISM GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Adult T-Cell Lymphoma/Leukemia T-Cell Lymphoma/Leukemia BEFREE 20647569, 24284316
★☆☆☆☆
Found in Text Mining only
Arthritis Psoriatic Psoriatic arthritis Pubtator 12507899 Stimulate
★☆☆☆☆
Found in Text Mining only
Carcinogenesis Carcinogenesis Pubtator 23727582 Inhibit
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma BEFREE 20565749
★☆☆☆☆
Found in Text Mining only
Clonic Seizures Clonic Seizures BEFREE 29214672
★☆☆☆☆
Found in Text Mining only
Cystic Fibrosis Cystic Fibrosis BEFREE 7721800
★☆☆☆☆
Found in Text Mining only
Glioblastoma Glioblastoma BEFREE 28205096
★☆☆☆☆
Found in Text Mining only
Glioblastoma Multiforme Glioblastoma BEFREE 28205096
★☆☆☆☆
Found in Text Mining only
Glioma Glioma BEFREE 12645656, 23358926
★☆☆☆☆
Found in Text Mining only
Hyperglycemia Hyperglycemia BEFREE 29532970
★☆☆☆☆
Found in Text Mining only