POLE - DNA polymerase epsilon, catalytic subunit Gene

Also Known as FILS; POLE1; CRCS12; IMAGEI

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5426

About POLE

Cytogenetic location: 12q24.33 Genomic coordinates (GRCh38): 12:132,623,762-132,687,342 (from NCBI)

This gene has 24 transcripts (splice variants), 222 orthologues and is associated with 143 phenotypes. Broad expression in bone marrow (RPKM 12.9), testis (RPKM 10.8) and 24 other tissues.

Summary

This gene encodes the catalytic subunit of DNA Polymerase epsilon. The enzyme is involved in DNA repair and chromosomal DNA replication. Mutations in this gene have been associated with colorectal Cancer 12 and facial dysmorphism, immunodeficiency, livedo, and short stature. [provided by RefSeq, Sep 2013]

POLE Products (1)

mRNA	Protein	Name
NM_006231.4	NP_006222.2	DNA polymerase epsilon catalytic subunit A

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables DNA binding	IDA IDA: Inferred from direct assay	16762037	GOA
enables DNA-directed DNA polymerase activity	IMP IMP: Inferred from mutant phenotype	16762037	GOA
enables chromatin binding	IDA IDA: Inferred from direct assay	16762037	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	10801849	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA replication	IMP IMP: Inferred from mutant phenotype	16762037	GOA
involved in DNA synthesis involved in DNA repair	IMP IMP: Inferred from mutant phenotype	1730053	GOA
involved in DNA-templated DNA replication	IDA IDA: Inferred from direct assay	33051204	GOA
involved in G1/S transition of mitotic cell cycle	IMP IMP: Inferred from mutant phenotype	16762037	GOA
involved in base-excision repair, gap-filling	IDA IDA: Inferred from direct assay	10559260	GOA
involved in nucleotide-excision repair, DNA gap filling	IMP IMP: Inferred from mutant phenotype	20227374	GOA

Cellular Component GO Annotation	Evidence	References	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
located in nucleus	IDA IDA: Inferred from direct assay	16762037	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

POLE Protein Structure

DNA_pol_B_exo1

DNA_pol_B

DUF1744

0
400
800
1200
1600
2000
2286 a.a.

Protein Preferred Names	Protein Names
DNA polymerase epsilon catalytic subunit A	3'-5' exodeoxyribonuclease

POLE Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POLE	Q07864	POLE2	Homo sapiens	P56282	Anti Tag CoIP	33961781
Intra	POLE	Q07864	POLE2	Homo sapiens	P56282	Anti Tag CoIP	28514442
Intra	POLE	Q07864	POLE2	Homo sapiens	P56282	Y2H Prey Pooling	32296183
Intra	POLE	Q07864	POLE2	Homo sapiens	P56282	Y2H Array	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Fils Syndrome Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome FILS Livedo Reticularis Cutis Marmorata
Colorectal Cancer 12	Colorectal Cancer, Susceptibility To, 12 CRCS12 Colorectal Cancer On Chromosome 12q24 Colorectal Cancer, Susceptibility To, On Chromosome 12q24 Susceptibility To Colorectal Cancer On Chromosome 12q24 Cancer, Colorectal, Susceptibility To, Type 12
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	IMAGEI Image-I Syndrome Imagei Syndrome
Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation	Lubani Al Saleh Teebi Syndrome
Lubani-Al Saleh-Teebi Syndrome	Lubani Al Saleh Teebi Syndrome Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome Cystic Fibrosis With Helicobacter Pylori Gastritis, Megaloblastic Anemia, And Mental Retardation Cystic Fibrosis Gastritis Megaloblastic Anemia Cystic Fibrosis, Helicobacter Pylori Gastritis, Megaloblastic Anemia, Subnormal Mentality And Minor Anomalies
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Image Syndrome IMAGE Intrauterine Growth Retardation-Metaphyseal Dysplasia-Adrenal Hypoplasia Congenita-Genital Anomalies Syndrome Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Abnormalities Intrauterine Growth Restriction, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies Image Anomaly Image Association Fetal Growth Retardation Pyle Metaphyseal Dysplasia
Polymerase Proofreading-Related Adenomatous Polyposis	Ppap
Familial Ovarian Cancer	Familial Ovarian Carcinoma Familial Ovarian Malignant Tumor
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
Bap1 Tumor Predisposition Syndrome	Bap1-Related Tumor Predisposition Syndrome Common Syndrome Bap1 Cancer Syndrome Bap1-Tpds Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, And Other Internal Neoplasms Tumor Predisposition Syndrome Tumor Susceptibility Linked To Germline Bap1 Mutations Cutaneous/Ocular Melanoma, Atypical Melanocytic Proliferations, Other Internal Neoplasms Tumor Predisposition
Inherited Cancer-Predisposing Syndrome	Hereditary Cancer-Predisposing Syndrome
Uterine Carcinosarcoma	Carcinosarcoma Of The Corpus Uteri Mixed Mullerian Sarcoma Of Uterus Malignant Mixed Müllerian Tumor Of The Corpus Uteri Malignant Mixed Müllerian Tumor Of Corpus Uteri Mixed Müllerian Cancer Of Corpus Uteri Malignant Mixed Mullerian Tumor Of The Corpus Uteri Mixed Mullerian Cancer Of Corpus Uteri Uterine Corpus Carcinosarcoma
Pancreatic Adenocarcinoma	Adenocarcinoma Of The Pancreas Adenocarcinoma Of Pancreas Pancreas Adenocarcinoma Malignant Exocrine Neoplasm Primary Pancreatic Adenocarcinoma Adenocarcinoma Of Islet Cell Of Pancreas Islet Cell Adenocarcinoma Of Unspecified Site Mixed Adenocarcinoma Islet Cell With Exocrine Of Unspecified Site
Giant Cell Glioblastoma	Monstrocellular Sarcoma
Female Reproductive Endometrioid Cancer	Endometrioid Tumor Endometrioid Neoplasm Female Reproductive Endometrioid Neoplasm
Gastric Adenocarcinoma	Adenocarcinoma Of Stomach Stomach Adenocarcinoma Adenocarcinoma Gastric Intestinal Type Adenocarcinoma Of Unspecified Site Diffuse Type Adenocarcinoma Of Unspecified Site
Gliosarcoma	Glioblastoma With Sarcomatous Component Sarcomatous Glioblastoma
Lynch Syndrome	Hereditary Nonpolyposis Colon Cancer Hereditary Nonpolyposis Colorectal Cancer Hereditary Nonpolyposis Colorectal Carcinoma Hereditary Nonpolyposis Colorectal Neoplasms Familial Nonpolyposis Colon Cancer Hnpcc Coca 1 Hereditary Defective Mismatch Repair Syndrome Hereditary Non-Polyposis Colon Cancer Hereditary Non-Polyposis Colon Cancer Syndrome Hereditary Non-Polyposis Colorectal Cancer Hereditary Non-Polyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colon Cancer Syndrome Hereditary Nonpolyposis Colorectal Cancer Syndrome Hereditary Nonpolyposis Colorectal Neoplasm Hnpcc - Hereditary Nonpolyposis Colon Cancer Cancer Family Syndrome Familial Nonpolyposis Colorectal Cancer Colon Cancer, Familial Nonpolyposis Colorectal Neoplasms, Hereditary Nonpolyposis Cancer, Colorectal, Nonpolyposis, Hereditary Colorectal Cancer, Hereditary Nonpolyposis, Type 1
Glioblastoma	Glioblastoma Multiforme Gbm Adult Glioblastoma Multiforme Grade Iv Adult Astrocytic Tumor Primary Glioblastoma Multiforme Spongioblastoma Multiforme Adult Glioblastoma Primary Glioblastoma
Mismatch Repair Cancer Syndrome	Turcot Syndrome Brain Tumor-Polyposis Syndrome 1 Btp1 Syndrome Btps1 Childhood Cancer Syndrome Cmmr-D Syndrome Cmmrds Constitutional Mismatch Repair Deficiency Syndrome Mmr Deficiency Cancer Syndrome, Mismatch Repair Malignant Childhood Neoplasm
Metaphyseal Dysplasia	Bakwin-Krida Syndrome Pyle'S Disease Pyle-Cohn Syndrome
Mixed Cell Type Cancer	Malignant Mixed Neoplasm Malignant Mixed Tumor Mixed Neoplasm Mixed Tumor, Malignant Malignant Mixed Cancer Mixed Tumor Malignant Mixed Tumor, Not Otherwise Specified Mixed Salivary Gland Tumor Mixed Tumor, Not Otherwise Specified
Uterine Corpus Cancer	Corpus Uteri Cancer Malignant Uterine Corpus Neoplasm
Familial Adenomatous Polyposis 2	Mutyh-Related Attenuated Familial Adenomatous Polyposis FAP2 Colorectal Adenomatous Polyposis, Autosomal Recessive Adenomas, Multiple Colorectal Mutyh-Associated Polyposis Mutyh-Related Attenuated Familial Polyposis Coli Mutyh-Related Attenuated Fap Adenomas, Multiple Colorectal, Autosomal Recessive Mutyh-Related Afap Adenomas Multiple Colorectal Autosomal Recessive Colorectal Adenomatous Polyposis Autosomal Recessive Adenomatous Polyposis, Familial, Type 2
Rectosigmoid Cancer	Rectosigmoid Junction Cancer Malignant Neoplasm Of Rectosigmoid Junction Malignant Neoplasm Of Rectosigmoid Malignant Rectosigmoid Tumor Malignant Tumor Of Rectosigmoid Junction
Nemaline Myopathy 3	Nemaline Myopathy 3, Autosomal Dominant Or Recessive Congenital Myopathy With Excess Of Thin Filaments NEM3 Myopathy, Actin, Congenital, With Cores Myopathy, Actin, Congenital, With Excess Of Thin Myofilaments Actin-Accumulation Myopathy Actin Myopathy Actin Accumulation Myopathy Actin Filament Aggregate Myopathy Nemaline Myopathy, Type 3 MPCETM Acta1-Related Nemaline Myopathy Actin Myopathy Congenital With Cores Nemaline Myopathy 3 With Intranuclear Rods Myopathy, Nemaline, Type 3
Uterine Body Mixed Cancer	Malignant Mixed Tumor Of Corpus Uteri Malignant Mixed Tumor, Not Otherwise Specified
Breast Cancer	Breast Carcinoma Male Breast Cancer Breast Cancer, Familial Malignant Neoplasm Of Breast Breast Cancer, Susceptibility To Breast Cancer, Early-Onset Malignant Tumor Of Breast Carcinoma Of Male Breast Breast Cancer, Invasive Ductal Breast Cancer, Protection Against Breast Cancer, Somatic Breast Cancer, Male Breast Cancer, Lobular, Somatic Breast Tumor Mammary Cancer Mammary Tumor Malignant Neoplasm Of Male Breast Mammary Carcinoma Male Breast Carcinoma Familial Cancer Of Breast Invasive Ductal Breast Carcinoma Breast Cancer Susceptibility Breast Cancer, Male, Susceptibility To Breast Cancer, Early-Onset, Susceptibility To Malignant Tumor Of The Breast Mammary Neoplasm Primary Breast Cancer Neoplasm Of Male Breast Carcinoma Of Breast Breast Cancer In Men Familial Breast Cancer Cancer Of Breast BC Breast Cancer Familial Breast Cancer Familial Male Breast Cancer, Familial Male Breast Male Carcinoma Breast Neoplasms Breast Neoplasms, Male Mammary Tumors Mammary Carcinomas Cancer, Breast Cancer, Breast, Susceptibility Invasive Breast Ductal Carcinoma Breast Neoplasm Susceptibility To Breast Cancer Mammary Neoplasms Animal Mammary Neoplasms Primary Malignant Neoplasm Of Breast Infiltrating Ductal Carcinoma Of Breast Infiltrating Duct Carcinoma Of Unspecified Site Infiltrating Ductular Carcinoma Of Unspecified Site Invasive Breast Carcinoma Of No Special Type Microinvasive Carcinoma Of Breast Carcinoma With Apocrine Differentiation
Hereditary Mixed Polyposis Syndrome	Hmps
Endometrioid Ovary Carcinoma	Endometrioid Carcinoma Of Ovary Endometrioid Carcinoma Ovary Ovarian Endometrioid Carcinoma Malignant Ovarian Endometrioid Tumor Ovarian Endometrioid Tumor
Endometrial Clear Cell Adenocarcinoma	Clear Cell Carcinoma Of Endometrium
Endometrial Serous Adenocarcinoma	Uterine Serous Carcinoma Uterine Corpus Serous Adenocarcinoma Uterine Papillary Serous Carcinoma
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip-Palate Syndrome 3 EEC3 Eec Syndrome 3 Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome, Type 3
Serous Cystadenocarcinoma	Serous Adenocarcinoma Cystadenocarcinoma, Serous Serous Carcinoma Cystadenocarcinoma Serous
Cervix Endometriosis	Endometriosis Of Cervix Cervical Endometriosis
Juvenile Polyposis Syndrome	JPS Juvenile Intestinal Polyposis Jip Pji Juvenile Gastrointestinal Polyposis Juvenile Polyposis Polyposis, Juvenile Intestinal Polyposis, Familial, Of Entire Gastrointestinal Tract Polyposis Familial Of Entire Gastrointestinal Tract Polyposis Juvenile Intestinal Polyposis Syndrome, Juvenile
Endometrial Adenocarcinoma	Endometrial Endometrioid Adenocarcinoma Endometrial Adenoacanthoma Endometrial Endometrioid Adenocarcinoma, Variant With Squamous Differentiation Adenocarcinoma Of Endometrium Adenocarcinoma Of The Endometrium Adenocarcinoma Of Uterus Endometrial Endometrioid Adenocarcinoma With Squamous Differentiation Endometrioid Adenoma Or Carcinoma Endometrioid Adenomas And Carcinomas Endometrioid Carcinoma Of Endometrium Endometrium Adenocarcinoma
Papillary Adenofibroma
Cowden Syndrome 1	Bannayan-Riley-Ruvalcaba Syndrome Pten Hamartoma Tumor Syndrome Lhermitte-Duclos Disease Bannayan-Zonana Syndrome Phts Riley-Smith Syndrome Bzs Ruvalcaba-Myhre-Smith Syndrome Multiple Hamartoma Syndrome Rmss Brrs Dysplastic Gangliocytoma Of The Cerebellum CWS1 Cs Cd Mham Pten Hamartoma Tumor Syndrome With Granular Cell Tumor Macrocephaly Multiple Lipomas And Hemangiomata Bannayan-Ruvalcaba-Riley Syndrome Myhre-Riley-Smith Syndrome LDD Cerebelloparenchymal Disorder Vi Hamartoma Syndrome, Multiple Bbrs Macrocephaly, Pseudopapilledema, And Multiple Hemangiomata Macrocephaly, Multiple Lipomas, And Hemangiomata Macrocephaly Pseudopapilledema And Multiple Hemangiomas Ruvalcaba -Myhre-Smith Syndrome Ruvalcaba-Myhre Syndrome Cowden Disease Macrocephaly Pseudopapilledema And Multiple Hemangiomata Cerebellar Granule Cell Hypertrophy And Megalencephaly Cpd6 Pten Hamartoma Tumor Syndromes Cowden Syndrome, Type 1
Colorectal Adenoma	Colorectal Adenomas Adenoma Of Large Intestine
Cowden Syndrome	Cowden Disease Multiple Hamartoma Syndrome Cowden'S Disease Lhermitte-Duclos Disease Cd Cs Mham Dysplastic Gangliocytoma Of Cerebellum Cowden'S Syndrome Hamartoma Syndrome, Multiple
Muir-Torre Syndrome	MRTES Keratoacanthoma Muir-Torré Syndrome Cutaneous Sebaceous Neoplasms And Keratoacanthomas, Multiple, With Gastrointestinal And Other Carcinomas Cutaneous Sebaceous Neoplasms And Keratoacanthomas Multiple With Gastrointestinal And Other Carcinomas Multiple Keratoacanthoma, Muir-Torre Type Mts Torre-Muir Syndrome
Hereditary Breast Ovarian Cancer Syndrome	Hereditary Breast And Ovarian Cancer Syndrome Brca1- And Brca2-Associated Hereditary Breast And Ovarian Cancer Breast And/Or Ovarian Cancer Breast And Ovarian Cancer Syndrome Hboc Syndrome Hereditary Breast And Ovarian Cancer Brca1- Brca2-Associated Hboc
Melanoma, Cutaneous Malignant 1	Familial Melanoma Melanoma, Cutaneous Malignant, Susceptibility To, 1 Melanoma, Malignant CMM1 Melanoma, Cutaneous Malignant Cmm Familial Atypical Mole-Malignant Melanoma Syndrome Fammm Melanoma, Familial Mlm Dysplastic Nevus Syndrome, Hereditary Dns B-K Mole Syndrome Melanoma, Cutaneous Malignant, 1 Malignant Melanoma, Cutaneous Melanoma, Cutaneous, Malignant, Susceptibility To, Type 1 Dysplastic Nevus Syndrome Cutaneous Melanoma Familial Atypical Mole Melanoma Syndrome Hereditary Melanoma

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

Pre-clinical Phase

Bioactive Molecules (12)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-153066	VLS-1272		99.63%	Unkown
HY-121908	FCPT	Inhibitor	/	Unkown
HY-D1737	RADA		/	Unkown
HY-RS10825	POLE Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10826	POLE2 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10827	POLE3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS10828	POLE4 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-B0824A	(1R)-cis-Bifenthrin		/	Unkown
HY-RS17692	Pole Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22734	Pole2 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS24154	Pole Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS29248	Pole2 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Macaca mulatta	POLE	VGNC	VGNC:100091
Mus musculus	POLE	MGD	MGI:1196391
Canis familiaris	POLE	VGNC	VGNC:44779
Felis catus	POLE	VGNC	VGNC:68938
Bos taurus	POLE	VGNC	VGNC:33118
Rattus norvegicus	POLE	RGD	RGD:1594540
Others	POLE	NCBI