1. Gene
  2. POLE2 - DNA polymerase epsilon 2, accessory subunit Gene

POLE2 - DNA polymerase epsilon 2, accessory subunit Gene

Homo sapiens

Also known as DPE2

Gene ID: 5427 | Gene type: protein coding

About POLE2

Cytogenetic location: 14q21.3 Genomic coordinates (GRCh38): 14:49,643,555-49,688,214 (from NCBI)

This gene has 13 transcripts (splice variants) and 201 orthologues. Broad expression in bone marrow (RPKM 3.7), appendix (RPKM 1.6) and 21 other tissues.

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]

POLE2 Products(5)

mRNA Protein Name
NM_001197330.2 NP_001184259.1 DNA polymerase epsilon subunit 2 isoform 2
NM_001197331.3 NP_001184260.1 DNA polymerase epsilon subunit 2 isoform 3
NM_001348384.2 NP_001335313.1 DNA polymerase epsilon subunit 2 isoform 4
NM_001348385.2 NP_001335314.1 DNA polymerase epsilon subunit 2 isoform 5
NM_002692.4 NP_002683.2 DNA polymerase epsilon subunit 2 isoform 1
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
10801849 GOA
Biological Process GO Annotation Evidence Reference Source
involved in DNA-templated DNA replication IDA
IDA: Inferred from direct assay
33051204 GOA
Cellular Component GO Annotation Evidence Reference Source
part of epsilon DNA polymerase complex IDA
IDA: Inferred from direct assay
10801849 GOA
part of epsilon DNA polymerase complex IPI
IPI: Inferred from physical interaction
10801849 GOA
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POLE2 Protein Structure

Dpoe2NT

Dpoe2NT: DNA polymerases epsilon N terminal (3 - 74)

DNA_pol_E_B

DNA_pol_E_B: DNA polymerase alpha/epsilon subunit B (287 - 489)

  • 0
  • 100
  • 200
  • 300
  • 400
  • 527 a.a.
Protein Preferred Names Protein Names

DNA polymerase epsilon subunit 2

DNA polymerase II subunit 2

POLE2 Protein-protein interaction Information

Type
Protein Name Protein ID Interactor Interactor Species Interactor ID Detection Method Reference
Intra
POLE2 P56282 MAPRE1 Homo sapiens Q15691
Validated Y2H
32296183
Intra
POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Array
25416956
Intra
POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 MAPRE1 Homo sapiens Q15691
Y2H Array
32296183
Intra
POLE2 P56282 TBX15 Homo sapiens Q96SF7
Y2H Array
25416956
Intra
POLE2 P56282 TBX15 Homo sapiens Q96SF7
Y2H Prey Pooling
25416956
Intra
POLE2 P56282 HEL-S-30 Homo sapiens V9HWB8
Y2H Prey Pooling
25416956
Intra
POLE2 P56282 REL Homo sapiens Q04864
Y2H Prey Pooling
25416956
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Y2H Array
32296183
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Anti Tag CoIP
33961781
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Validated Y2H
32296183
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Anti Bait CoIP
10801849
Intra
POLE2 P56282 POLE Homo sapiens Q07864
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Validated Y2H
32296183
Intra
POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Y2H Array
32296183
Intra
POLE2 P56282 EXOSC4 Homo sapiens Q9NPD3
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 CYP4F12 Homo sapiens Q9HCS2
Anti Tag CoIP
28514442
Intra
POLE2 P56282 CYP4F12 Homo sapiens Q9HCS2
Anti Tag CoIP
33961781
Intra
POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Validated Y2H
32296183
Intra
POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Y2H Array
32296183
Intra
POLE2 P56282 ZNF620 Homo sapiens Q6ZNG0
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Array
31515488
Intra
POLE2 P56282 TRIM27 Homo sapiens P14373
Validated Y2H
25416956
Intra
POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 TRIM27 Homo sapiens P14373
Y2H Array
32296183
Intra
POLE2 P56282 ZBED1 Homo sapiens O96006
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 ZBED1 Homo sapiens O96006
Y2H Array
32296183
Intra
POLE2 P56282 SORBS3 Homo sapiens O60504
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Y2H Prey Pooling
32296183
Intra
POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Validated Y2H
32296183
Intra
POLE2 P56282 UBQLN2 Homo sapiens Q9UHD9
Y2H Array
32296183
Intra
POLE2 P56282 AGFG1 Homo sapiens P52594
Validated Y2H
25416956
Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases Alias
Hypothyroidism, Congenital, Nongoitrous, 6

CHNG6

Congenital Nongoitrous Hypothyroidism 6

Hypothyroidism, Congenital, Non-Goitrous, 6

Hypothyroidism, Congenital, Nongoitrous, Type 6

Holoprosencephaly 2

HPE2

Holoprosencephaly-2

Holoprosencephaly, Type 2

Combined Immunodeficiency

Combined T Cell And B Cell Immunodeficiency

Congenital Combined Immunodeficiency

Syndrome With Combined Immunodeficiency

Combined T And B Cell Immunodeficiency

Combined Immunity Deficiency

Combined Immunodeficiency Syndrome

Combined T-Cell And B-Cell Immunodeficiency

Lymphopenic Agammaglobulinaemia

Breast Mucinous Carcinoma

Mucinous Carcinoma Of Breast

Invasive Mucinous Breast Carcinoma

Colorectal Cancer

Colon Cancer

Colorectal Carcinoma

Colon Carcinoma

Colorectal Cancer, Susceptibility To

Carcinoma Of Colon

CRC

Colorectal Cancer With Chromosomal Instability, Somatic

Colon Cancer, Somatic

Colon Cancer, Susceptibility To

Colonic Neoplasms

Colorectal Neoplasms

Colorectal Cancer, Somatic

Colon Cancer, Advanced, Somatic

Colonic Carcinoma

Colorectal Carcinomas

Colon Cancers

Colorectal Cancers

Cancer, Colorectal, Somatic

Cancer, Colon

Cancer, Colorectal, Susceptibility To

Colorectal Neoplasm

Colonic Neoplasm

Malignant Tumor Of Colon

Bardet-Biedl Syndrome 1

BBS1

Bardet-Biedl Syndrome 1, Modifier Of

Bardet-Biedl Syndrome

BBS

Bardet-Biedl Syndrome, Type 1

Laurence-Moon-Bardet-Biedl Syndrome

Meier-Gorlin Syndrome 1

Meier-Gorlin Syndrome

Ear, Patella, Short Stature Syndrome

Microtia, Absent Patellae, Micrognathia Syndrome

MGORS1

Eps

Ear-Patella-Short Stature Syndrome

Ear Patella Short Stature Syndrome

Microtia Absent Patellae Micrognathia Syndrome

Meier-Gorlin Syndrome, Type 1

Diseases Alias
Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Waldenstroem'S Macroglobulinemia

Waldenstroem'S Macroglobulinemia

Macroglobulinemia Of Waldenstrom

Lymphoplasmacytic Lymphoma With Igm Gammopathy

Lymphoplasmacytic Lymphoma

Orthologs Information

Species Symbol Source ID
Felis catus POLE2 VGNC VGNC:68939
Bos taurus POLE2 VGNC VGNC:33119
Macaca mulatta POLE2 VGNC VGNC:76204
Mus musculus POLE2 MGD MGI:1197514
Rattus norvegicus POLE2 RGD RGD:1311962