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POLE2 DNA polymerase epsilon 2, accessory subunit [ Homo sapiens (human) ]

Gene ID: 5427, updated on 7-Apr-2024

Summary

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Official Symbol
POLE2provided by HGNC
Official Full Name
DNA polymerase epsilon 2, accessory subunitprovided by HGNC
Primary source
HGNC:HGNC:9178
See related
Ensembl:ENSG00000100479 MIM:602670; AllianceGenome:HGNC:9178
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
DPE2
Summary
DNA polymerase epsilon, which is involved in DNA repair and replication, is composed of a large catalytic subunit and a small accessory subunit. The protein encoded by this gene represents the small subunit (B). Defects in this gene have been linked to colorectal cancer and to combined immunodeficiency. [provided by RefSeq, Jan 2017]
Expression
Broad expression in bone marrow (RPKM 3.7), appendix (RPKM 1.6) and 21 other tissues See more
Orthologs
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Genomic context

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Location:
14q21.3
Exon count:
20
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 14 NC_000014.9 (49643555..49688214, complement)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 14 NC_060938.1 (43841772..43886260, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50110273..50154932, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50087617-50088167 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5697 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8318 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50099325-50100085 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 8320 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5699 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50100846-50101606 Neighboring gene Sharpr-MPRA regulatory region 10705 Neighboring gene alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Neighboring gene dynein axonemal assembly factor 2 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50154169-50154930 Neighboring gene RNA, U6atac small nuclear 30, pseudogene Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr14:50154931-50155690 Neighboring gene serine/threonine kinase 16 pseudogene 1 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5703 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5704 Neighboring gene kelch domain containing 1 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr14:50184541-50185042 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5705 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5706 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5707 Neighboring gene kelch domain containing 2 Neighboring gene nuclear export mediator factor

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Rare disruptive mutations and their contribution to the heritable risk of colorectal cancer. Chubb D, et al. Nat Commun, 2016 Jun 22. PMID 27329137, Free PMC Article
  2. A novel mutation in the POLE2 gene causing combined immunodeficiency. Frugoni F, et al. J Allergy Clin Immunol, 2016 Feb. PMID 26365386, Free PMC Article
  3. Mutations/polymorphisms in the 55 kDa subunit of DNA polymerase epsilon in human colorectal cancer. Zhou Q, et al. Cancer Genomics Proteomics, 2009 Nov-Dec. PMID 20065316
  4. The solution structure of the amino-terminal domain of human DNA polymerase epsilon subunit B is homologous to C-domains of AAA+ proteins. Nuutinen T, et al. Nucleic Acids Res, 2008 Sep. PMID 18676977, Free PMC Article
  5. Purification, cDNA cloning, and gene mapping of the small subunit of human DNA polymerase epsilon. Li Y, et al. J Biol Chem, 1997 Dec 19. PMID 9405441

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. POLE2 knockdown suppresses lymphoma progression via downregulating Wnt/beta-catenin signaling pathway.
    Title: POLE2 knockdown suppresses lymphoma progression via downregulating Wnt/β-catenin signaling pathway.
  2. Inhibition of ferroptosis by POLE2 in gastric cancer cells involves the activation of NRF2/GPX4 pathway.
    Title: Inhibition of ferroptosis by POLE2 in gastric cancer cells involves the activation of NRF2/GPX4 pathway.
  3. POLE2 Regulates Apoptosis of Oral Squamous Cell Carcinoma Cells through the PI3K/AKT Signaling Pathway.
    Title: POLE2 Regulates Apoptosis of Oral Squamous Cell Carcinoma Cells through the PI3K/AKT Signaling Pathway.
  4. Knockdown of HDAC10 inhibits POLE2-mediated DNA damage repair in NSCLC cells by increasing SP1 acetylation levels.
    Title: Knockdown of HDAC10 inhibits POLE2-mediated DNA damage repair in NSCLC cells by increasing SP1 acetylation levels.
  5. Silencing POLE2 promotes apoptosis and inhibits proliferation of oral squamous cell carcinomas by inhibiting PI3K/AKT signaling pathway.
    Title: Silencing POLE2 promotes apoptosis and inhibits proliferation of oral squamous cell carcinomas by inhibiting PI3K/AKT signaling pathway.
  6. POLE2 facilitates the malignant phenotypes of glioblastoma through promoting AURKA-mediated stabilization of FOXM1.
    Title: POLE2 facilitates the malignant phenotypes of glioblastoma through promoting AURKA-mediated stabilization of FOXM1.
  7. Genetic Risk of Trigger Finger: Results of a Genomewide Association Study.
    Title: Genetic Risk of Trigger Finger: Results of a Genomewide Association Study.
  8. Inhibition of DNA polymerases a, delra and e by AFP promoter-driven artificial microRNAs may lead to effective growth arrest of AFP-positive HCC cells,as novel strategy for gene therapy
    Title: DNA Polymerases as targets for gene therapy of hepatocellular carcinoma.
  9. found that mutations occurred in POLE2 in 5 out of 16 cases of human colon cancer examined.
    Title: Mutations/polymorphisms in the 55 kDa subunit of DNA polymerase epsilon in human colorectal cancer.
  10. Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
    Title: Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables DNA binding IEA
Inferred from Electronic Annotation
more info
  
enables DNA-directed DNA polymerase activity TAS
Traceable Author Statement
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in DNA repair TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA replication TAS
Traceable Author Statement
more info
 PubMed 
involved_in DNA-templated DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in DNA-templated DNA replication IDA
Inferred from Direct Assay
more info
 PubMed 
involved_in error-prone translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
  
Component Evidence Code Pubs
part_of epsilon DNA polymerase complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of epsilon DNA polymerase complex IDA
Inferred from Direct Assay
more info
 PubMed 
part_of epsilon DNA polymerase complex IPI
Inferred from Physical Interaction
more info
 PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
  
located_in nuclear body IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
  
located_in nucleoplasm TAS
Traceable Author Statement
more info
  

General protein information

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Preferred Names
DNA polymerase epsilon subunit 2
Names
DNA polymerase II subunit 2
DNA polymerase epsilon subunit B
polymerase (DNA directed), epsilon 2 (p59 subunit)
polymerase (DNA directed), epsilon 2, accessory subunit
polymerase (DNA) epsilon 2, accessory subunit
NP_001184259.1
NP_001184260.1
NP_001335313.1
NP_001335314.1
NP_002683.2
XP_047287439.1
XP_047287440.1
XP_054232203.1
XP_054232204.1

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_052877.1 RefSeqGene

    Range
    5204..49863
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001197330.2 → NP_001184259.1  DNA polymerase epsilon subunit 2 isoform 2

    See identical proteins and their annotated locations for NP_001184259.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) lacks an an-frame exon in the 5' coding region, compared to variant 1. The resulting protein (isoform 2) is shorter, compared to isoform 1.
    Source sequence(s)
    AK293163, BC126218, BG189206
    Consensus CDS
    CCDS55914.1
    UniProtKB/TrEMBL
    Q86SY9
    Related
    ENSP00000446313.2, ENST00000539565.6
    Conserved Domains (2) summary
    pfam12213
    Location:4 → 74
    Dpoe2NT; DNA polymerases epsilon N terminal
    pfam04042
    Location:262 → 463
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B

  2. NM_001197331.3 → NP_001184260.1  DNA polymerase epsilon subunit 2 isoform 3

    See identical proteins and their annotated locations for NP_001184260.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks the two 3' terminal exons and contains a distinct 3' UTR, compared to isoform 1. The resulting protein (isoform 3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AL139099, AL591767, BC112962, BC126218
    Consensus CDS
    CCDS55915.1
    UniProtKB/TrEMBL
    Q86SY9
    Related
    ENSP00000451621.1, ENST00000554396.6
    Conserved Domains (2) summary
    pfam04042
    Location:288 → 489
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
    pfam12213
    Location:4 → 73
    Dpoe2NT; DNA polymerases epsilon N terminal

  3. NM_001348384.2 → NP_001335313.1  DNA polymerase epsilon subunit 2 isoform 4

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) uses an alternate in-frame splice junction compared to variant 1. The resulting isoform (4) has the same N- and C-termini but is shorter compared to isoform 1.
    Source sequence(s)
    AF025840, BG189206, DB470418
    UniProtKB/TrEMBL
    Q86SY9
    Conserved Domains (2) summary
    pfam04042
    Location:288 → 488
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
    pfam12213
    Location:4 → 73
    Dpoe2NT; DNA polymerases epsilon N terminal

  4. NM_001348385.2 → NP_001335314.1  DNA polymerase epsilon subunit 2 isoform 5

    Status: REVIEWED

    Description
    Transcript Variant: This variant (5) uses an alternate splice junction compared to variant 1. The resulting isoform (5) has a shorter and distinct N-terminus compared to isoform 1.
    Source sequence(s)
    AL139099, AL591767
    UniProtKB/TrEMBL
    Q86SY9
    Conserved Domains (1) summary
    pfam04042
    Location:211 → 412
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B

  5. NM_002692.4 → NP_002683.2  DNA polymerase epsilon subunit 2 isoform 1

    See identical proteins and their annotated locations for NP_002683.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    BC126218, BG189206
    Consensus CDS
    CCDS32073.1
    UniProtKB/Swiss-Prot
    A0AV55, A4FU92, A4LBB7, A6NH58, B4DDE6, O43560, P56282
    UniProtKB/TrEMBL
    Q86SY9
    Related
    ENSP00000216367.5, ENST00000216367.10
    Conserved Domains (2) summary
    pfam12213
    Location:4 → 74
    Dpoe2NT; DNA polymerases epsilon N terminal
    pfam04042
    Location:288 → 489
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2023_10

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p14 Primary Assembly

    Range
    49643555..49688214 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047431483.1 → XP_047287439.1  DNA polymerase epsilon subunit 2 isoform X1

  2. XM_047431484.1 → XP_047287440.1  DNA polymerase epsilon subunit 2 isoform X2

RNA

  1. XR_007064016.1 RNA Sequence

  2. XR_007064015.1 RNA Sequence

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060938.1 Alternate T2T-CHM13v2.0

    Range
    43841772..43886260 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_054376228.1 → XP_054232203.1  DNA polymerase epsilon subunit 2 isoform X1

  2. XM_054376229.1 → XP_054232204.1  DNA polymerase epsilon subunit 2 isoform X2

RNA

  1. XR_008488875.1 RNA Sequence

  2. XR_008488874.1 RNA Sequence

Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
P56282.2 GenPept UniProtKB/Swiss-Prot:P56282

Gene LinkOut

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