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

Gene ID: 5427, updated on 21-Dec-2019

Summary

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
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

Genomic context

See POLE2 in Genome Data Viewer
Location:
14q21.3
Exon count:
20
Annotation release Status Assembly Chr Location
109.20191205 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (49643552..49688417, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (50110270..50155098, complement)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Neighboring gene dynein axonemal assembly factor 2 Neighboring gene RNA, U6atac small nuclear 30, pseudogene Neighboring gene serine/threonine kinase 16 pseudogene 1 Neighboring gene kelch domain containing 1 Neighboring gene kelch domain containing 2 Neighboring gene nuclear export mediator factor

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding IEA
Inferred from Electronic Annotation
more info
 
contributes_to DNA-directed DNA polymerase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
DNA repair TAS
Traceable Author Statement
more info
PubMed 
DNA replication TAS
Traceable Author Statement
more info
PubMed 
DNA replication initiation TAS
Traceable Author Statement
more info
 
DNA-dependent DNA replication IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
G1/S transition of mitotic cell cycle TAS
Traceable Author Statement
more info
 
error-prone translesion synthesis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
telomere maintenance via semi-conservative replication TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
epsilon DNA polymerase complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
epsilon DNA polymerase complex IDA
Inferred from Direct Assay
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nuclear body IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 

General protein information

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_011535144.1
XP_011535145.1
XP_011535146.1
XP_016876863.1

NCBI Reference Sequences (RefSeq)

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_001197330.1NP_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, AL591767, BC126218, BG189206
    Consensus CDS
    CCDS55914.1
    UniProtKB/Swiss-Prot
    P56282
    Related
    ENSP00000446313.2, ENST00000539565.6
    Conserved Domains (2) summary
    pfam04042
    Location:262463
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
    pfam12213
    Location:373
    Dpoe2NT; DNA polymerases epsilon N terminal
  2. NM_001197331.2NP_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/Swiss-Prot
    P56282
    Related
    ENSP00000451621.1, ENST00000554396.5
    Conserved Domains (2) summary
    pfam04042
    Location:288489
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
    pfam12213
    Location:473
    Dpoe2NT; DNA polymerases epsilon N terminal
  3. NM_001348384.1NP_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/Swiss-Prot
    P56282
    Conserved Domains (2) summary
    pfam04042
    Location:288488
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
    pfam12213
    Location:473
    Dpoe2NT; DNA polymerases epsilon N terminal
  4. NM_001348385.1NP_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
    Conserved Domains (1) summary
    pfam04042
    Location:211412
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
  5. NM_002692.4NP_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
    P56282
    Related
    ENSP00000216367.5, ENST00000216367.10
    Conserved Domains (2) summary
    pfam04042
    Location:288489
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
    pfam12213
    Location:473
    Dpoe2NT; DNA polymerases epsilon N terminal

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20191205

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    49643552..49688417 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011536842.2XP_011535144.1  DNA polymerase epsilon subunit 2 isoform X2

    Conserved Domains (2) summary
    pfam04042
    Location:262463
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
    pfam12213
    Location:373
    Dpoe2NT; DNA polymerases epsilon N terminal
  2. XM_017021374.1XP_016876863.1  DNA polymerase epsilon subunit 2 isoform X1

    Conserved Domains (2) summary
    pfam04042
    Location:288489
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
    pfam12213
    Location:373
    Dpoe2NT; DNA polymerases epsilon N terminal
  3. XM_011536843.2XP_011535145.1  DNA polymerase epsilon subunit 2 isoform X3

    Conserved Domains (1) summary
    pfam04042
    Location:211412
    DNA_pol_E_B; DNA polymerase alpha/epsilon subunit B
  4. XM_011536844.1XP_011535146.1  DNA polymerase epsilon subunit 2 isoform X4

    Conserved Domains (1) summary
    pfam12213
    Location:373
    Dpoe2NT; DNA polymerases epsilon N terminal

RNA

  1. XR_943480.1 RNA Sequence

  2. XR_943479.1 RNA Sequence

    Related
    ENST00000556584.5
  3. XR_001750378.1 RNA Sequence

  4. XR_001750377.1 RNA Sequence

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