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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
    mouse all
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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

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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