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

DNA_pol_E_B

0
100
200
300
400
527 a.a.

Protein Preferred Names

Protein Names

DNA polymerase epsilon subunit 2

DNA polymerase II subunit 2

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

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10826	POLE2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

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

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