Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5426
Gene name Gene Name - the full gene name approved by the HGNC.	DNA polymerase epsilon, catalytic subunit
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POLE
Synonyms (NCBI Gene) Gene synonyms aliases	CRCS12, FILS, IMAGEI, POLE1
Chromosome Chromosome number	12
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	12q24.33
Summary Summary of gene provided in NCBI Entrez Gene.	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

Show/Hide all(93)

SNP ID	Visualize variation	Clinical significance	Consequence
rs5744739	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant
rs5744933	T>C	Conflicting-interpretations-of-pathogenicity, benign	Coding sequence variant, missense variant, non coding transcript variant
rs5744948	T>G	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance	Coding sequence variant, missense variant, non coding transcript variant
rs36120395	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs61732929	C>A,T	Likely-benign, benign-likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Upstream transcript variant, genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs113307290	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Intron variant
rs113594027	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs113998091	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs114119067	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, missense variant
rs115193764	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, upstream transcript variant, genic upstream transcript variant, coding sequence variant, missense variant
rs115455318	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, coding sequence variant, missense variant
rs115558715	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs116076060	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, genic downstream transcript variant, synonymous variant
rs116742454	A>G	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs137860861	C>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, missense variant
rs138207610	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, 5 prime UTR variant, genic upstream transcript variant, coding sequence variant, missense variant
rs139075637	A>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic upstream transcript variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant
rs139182500	A>C,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs139603739	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant
rs140566004	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs141619382	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs142373951	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Synonymous variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs142508245	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs143626223	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, non coding transcript variant, coding sequence variant
rs146639652	G>A,C	Likely-benign, likely-pathogenic	Missense variant, genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs146711942	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs147354120	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs147692158	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs147806951	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs148382941	T>C	Conflicting-interpretations-of-pathogenicity	Missense variant, genic upstream transcript variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs149462407	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, coding sequence variant
rs151273553	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs200080353	C>T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Upstream transcript variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant, synonymous variant
rs200398117	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs201115064	C>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs201273415	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs367970442	T>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, missense variant, downstream transcript variant
rs368662693	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs371717068	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic upstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs372169366	C>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign, benign	Intron variant, genic downstream transcript variant
rs372459649	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs372901803	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, non coding transcript variant, coding sequence variant
rs373272795	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, non coding transcript variant, coding sequence variant
rs373443211	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Non coding transcript variant, missense variant, genic downstream transcript variant, synonymous variant, coding sequence variant
rs375198950	G>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Genic downstream transcript variant, non coding transcript variant, coding sequence variant, synonymous variant
rs375209004	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs376546593	A>G	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, non coding transcript variant, missense variant, coding sequence variant, upstream transcript variant
rs398122515	T>C	Likely-pathogenic, uncertain-significance, pathogenic	Intron variant
rs483352909	G>A,C	Uncertain-significance, pathogenic	Genic upstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs531482240	G>C,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Downstream transcript variant, intron variant, genic downstream transcript variant
rs536917758	G>A	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs540203276	C>A,G	Likely-benign, conflicting-interpretations-of-pathogenicity, benign-likely-benign, benign	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, downstream transcript variant, synonymous variant
rs563990655	C>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, missense variant
rs745601745	C>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic upstream transcript variant, non coding transcript variant
rs745838504	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, synonymous variant
rs747692201	C>G	Uncertain-significance, pathogenic	Coding sequence variant, genic upstream transcript variant, missense variant, non coding transcript variant, upstream transcript variant
rs750255126	G>A	Conflicting-interpretations-of-pathogenicity	Downstream transcript variant, intron variant, genic downstream transcript variant
rs752682384	CA>-	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant, upstream transcript variant
rs758112633	A>-	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, intron variant
rs761329565	C>-	Likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, coding sequence variant, frameshift variant
rs761910924	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs762985435	G>A,C	Pathogenic	Intron variant, genic upstream transcript variant
rs763078534	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant, genic upstream transcript variant, non coding transcript variant
rs767503360	G>A,C,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, upstream transcript variant, coding sequence variant, non coding transcript variant, genic upstream transcript variant
rs769834031	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic upstream transcript variant
rs770403791	A>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic upstream transcript variant, non coding transcript variant, missense variant
rs770466844	C>G	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs772127913	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, non coding transcript variant, genic downstream transcript variant
rs772361606	C>G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant, missense variant
rs774425403	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity, uncertain-significance	Synonymous variant, missense variant, non coding transcript variant, coding sequence variant
rs774747998	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant, genic downstream transcript variant, non coding transcript variant
rs775213170	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, synonymous variant, genic upstream transcript variant, coding sequence variant
rs780843358	T>A	Likely-pathogenic	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs869312803	G>C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, genic upstream transcript variant, stop gained
rs991583405	C>T	Conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, synonymous variant, non coding transcript variant, coding sequence variant
rs1057519943	G>C,T	Uncertain-significance, drug-response, likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1057519944	G>A	Likely-pathogenic	Non coding transcript variant, 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, missense variant
rs1057519945	C>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, genic upstream transcript variant, coding sequence variant
rs1057521516	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, upstream transcript variant, genic upstream transcript variant
rs1060500826	C>T	Conflicting-interpretations-of-pathogenicity	Intron variant, genic downstream transcript variant
rs1064794932	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, genic upstream transcript variant, synonymous variant
rs1174721130	A>G	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, genic downstream transcript variant, synonymous variant
rs1196356920	G>C	Pathogenic, uncertain-significance	Non coding transcript variant, stop gained, coding sequence variant, genic upstream transcript variant
rs1203095918	G>A	Conflicting-interpretations-of-pathogenicity	Upstream transcript variant, intron variant, genic upstream transcript variant
rs1260912213	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, synonymous variant
rs1555221512	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, intron variant
rs1555222342	C>-	Pathogenic, uncertain-significance	Frameshift variant, non coding transcript variant, coding sequence variant
rs1555223949	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, non coding transcript variant, coding sequence variant
rs1555225958	C>A	Pathogenic, likely-pathogenic	Non coding transcript variant, genic upstream transcript variant, upstream transcript variant, stop gained, coding sequence variant
rs1555229108	A>C	Drug-response	Missense variant, non coding transcript variant, coding sequence variant, genic upstream transcript variant
rs1555301070	T>-	Likely-pathogenic, uncertain-significance	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1593722216	GATCCTGAAAG>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, intron variant, genic downstream transcript variant, splice acceptor variant
rs1593733806	TG>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, frameshift variant

Show/Hide all(121)

miRTarBase ID	miRNA	Experiments	Reference
MIRT016490	hsa-miR-193b-3p	Microarray	20304954
MIRT048946	hsa-miR-92a-3p	CLASH	23622248
MIRT048946	hsa-miR-92a-3p	CLASH	23622248
MIRT048792	hsa-miR-93-5p	CLASH	23622248
MIRT046796	hsa-miR-222-3p	CLASH	23622248
MIRT043193	hsa-miR-324-5p	CLASH	23622248
MIRT1247438	hsa-miR-1200	CLIP-seq
MIRT1247439	hsa-miR-1207-5p	CLIP-seq
MIRT1247440	hsa-miR-1224-3p	CLIP-seq
MIRT1247441	hsa-miR-1252	CLIP-seq
MIRT1247442	hsa-miR-1260	CLIP-seq
MIRT1247443	hsa-miR-1260b	CLIP-seq
MIRT1247444	hsa-miR-1280	CLIP-seq
MIRT1247445	hsa-miR-1324	CLIP-seq
MIRT1247446	hsa-miR-147	CLIP-seq
MIRT1247447	hsa-miR-15a	CLIP-seq
MIRT1247448	hsa-miR-15b	CLIP-seq
MIRT1247449	hsa-miR-16	CLIP-seq
MIRT1247450	hsa-miR-195	CLIP-seq
MIRT1247451	hsa-miR-2467-5p	CLIP-seq
MIRT1247452	hsa-miR-3074-5p	CLIP-seq
MIRT1247453	hsa-miR-3125	CLIP-seq
MIRT1247454	hsa-miR-3188	CLIP-seq
MIRT1247455	hsa-miR-3545-5p	CLIP-seq
MIRT1247456	hsa-miR-3663-5p	CLIP-seq
MIRT1247457	hsa-miR-3689d	CLIP-seq
MIRT1247458	hsa-miR-3911	CLIP-seq
MIRT1247459	hsa-miR-3916	CLIP-seq
MIRT1247460	hsa-miR-3929	CLIP-seq
MIRT1247461	hsa-miR-3975	CLIP-seq
MIRT1247462	hsa-miR-424	CLIP-seq
MIRT1247463	hsa-miR-4280	CLIP-seq
MIRT1247464	hsa-miR-4305	CLIP-seq
MIRT1247465	hsa-miR-4324	CLIP-seq
MIRT1247466	hsa-miR-4419b	CLIP-seq
MIRT1247467	hsa-miR-4433	CLIP-seq
MIRT1247468	hsa-miR-4446-3p	CLIP-seq
MIRT1247469	hsa-miR-4459	CLIP-seq
MIRT1247470	hsa-miR-4478	CLIP-seq
MIRT1247471	hsa-miR-4524	CLIP-seq
MIRT1247472	hsa-miR-4527	CLIP-seq
MIRT1247473	hsa-miR-4642	CLIP-seq
MIRT1247474	hsa-miR-4645-3p	CLIP-seq
MIRT1247475	hsa-miR-4649-3p	CLIP-seq
MIRT1247476	hsa-miR-4695-5p	CLIP-seq
MIRT1247477	hsa-miR-4697-3p	CLIP-seq
MIRT1247478	hsa-miR-4711-5p	CLIP-seq
MIRT1247479	hsa-miR-4733-3p	CLIP-seq
MIRT1247480	hsa-miR-4736	CLIP-seq
MIRT1247481	hsa-miR-4757-5p	CLIP-seq
MIRT1247482	hsa-miR-4763-3p	CLIP-seq
MIRT1247483	hsa-miR-4764-5p	CLIP-seq
MIRT1247484	hsa-miR-4768-3p	CLIP-seq
MIRT1247485	hsa-miR-485-5p	CLIP-seq
MIRT1247486	hsa-miR-497	CLIP-seq
MIRT1247487	hsa-miR-503	CLIP-seq
MIRT1247488	hsa-miR-520g	CLIP-seq
MIRT1247489	hsa-miR-520h	CLIP-seq
MIRT1247490	hsa-miR-532-3p	CLIP-seq
MIRT1247491	hsa-miR-542-5p	CLIP-seq
MIRT1247492	hsa-miR-548ac	CLIP-seq
MIRT1247493	hsa-miR-548ae	CLIP-seq
MIRT1247494	hsa-miR-548aj	CLIP-seq
MIRT1247495	hsa-miR-548am	CLIP-seq
MIRT1247496	hsa-miR-548d-3p	CLIP-seq
MIRT1247497	hsa-miR-548x	CLIP-seq
MIRT1247498	hsa-miR-548z	CLIP-seq
MIRT1247499	hsa-miR-642a	CLIP-seq
MIRT1247500	hsa-miR-644	CLIP-seq
MIRT1247501	hsa-miR-646	CLIP-seq
MIRT1247502	hsa-miR-663b	CLIP-seq
MIRT1247503	hsa-miR-671-5p	CLIP-seq
MIRT1247504	hsa-miR-877	CLIP-seq
MIRT1247505	hsa-miR-936	CLIP-seq
MIRT1247506	hsa-miR-941	CLIP-seq
MIRT1247439	hsa-miR-1207-5p	CLIP-seq
MIRT1247445	hsa-miR-1324	CLIP-seq
MIRT1247447	hsa-miR-15a	CLIP-seq
MIRT1247448	hsa-miR-15b	CLIP-seq
MIRT1247449	hsa-miR-16	CLIP-seq
MIRT1247450	hsa-miR-195	CLIP-seq
MIRT1247456	hsa-miR-3663-5p	CLIP-seq
MIRT1247462	hsa-miR-424	CLIP-seq
MIRT1247471	hsa-miR-4524	CLIP-seq
MIRT1247472	hsa-miR-4527	CLIP-seq
MIRT1247474	hsa-miR-4645-3p	CLIP-seq
MIRT1247480	hsa-miR-4736	CLIP-seq
MIRT1247481	hsa-miR-4757-5p	CLIP-seq
MIRT1247482	hsa-miR-4763-3p	CLIP-seq
MIRT1247483	hsa-miR-4764-5p	CLIP-seq
MIRT1247486	hsa-miR-497	CLIP-seq
MIRT1247487	hsa-miR-503	CLIP-seq
MIRT1247491	hsa-miR-542-5p	CLIP-seq
MIRT1247501	hsa-miR-646	CLIP-seq
MIRT1247502	hsa-miR-663b	CLIP-seq
MIRT1247503	hsa-miR-671-5p	CLIP-seq
MIRT1247505	hsa-miR-936	CLIP-seq
MIRT1247438	hsa-miR-1200	CLIP-seq
MIRT2300205	hsa-miR-1294	CLIP-seq
MIRT1247451	hsa-miR-2467-5p	CLIP-seq
MIRT1247452	hsa-miR-3074-5p	CLIP-seq
MIRT1247454	hsa-miR-3188	CLIP-seq
MIRT2300206	hsa-miR-3918	CLIP-seq
MIRT1247460	hsa-miR-3929	CLIP-seq
MIRT1247461	hsa-miR-3975	CLIP-seq
MIRT1247465	hsa-miR-4324	CLIP-seq
MIRT1247466	hsa-miR-4419b	CLIP-seq
MIRT1247470	hsa-miR-4478	CLIP-seq
MIRT1247475	hsa-miR-4649-3p	CLIP-seq
MIRT2300207	hsa-miR-4685-5p	CLIP-seq
MIRT1247485	hsa-miR-485-5p	CLIP-seq
MIRT2596938	hsa-miR-1234	CLIP-seq
MIRT2596939	hsa-miR-125a-3p	CLIP-seq
MIRT2596940	hsa-miR-3934	CLIP-seq
MIRT2596941	hsa-miR-4778-3p	CLIP-seq
MIRT2596942	hsa-miR-764	CLIP-seq
MIRT2596938	hsa-miR-1234	CLIP-seq
MIRT2596939	hsa-miR-125a-3p	CLIP-seq
MIRT2596940	hsa-miR-3934	CLIP-seq
MIRT2596941	hsa-miR-4778-3p	CLIP-seq
MIRT2596942	hsa-miR-764	CLIP-seq

Show/Hide all(48)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000082	Process	G1/S transition of mitotic cell cycle	IMP	16762037
GO:0000166	Function	Nucleotide binding	IEA
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000731	Process	DNA synthesis involved in DNA repair	IEA
GO:0000731	Process	DNA synthesis involved in DNA repair	IMP	1730053
GO:0003676	Function	Nucleic acid binding	IEA
GO:0003677	Function	DNA binding	IBA
GO:0003677	Function	DNA binding	IDA	16762037
GO:0003677	Function	DNA binding	IEA
GO:0003677	Function	DNA binding	TAS	8486689
GO:0003682	Function	Chromatin binding	IDA	16762037
GO:0003887	Function	DNA-directed DNA polymerase activity	IBA
GO:0003887	Function	DNA-directed DNA polymerase activity	IEA
GO:0003887	Function	DNA-directed DNA polymerase activity	IMP	16762037
GO:0005515	Function	Protein binding	IPI	10801849, 28514442, 32296183, 33961781, 35512704
GO:0005634	Component	Nucleus	IDA	16762037
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005886	Component	Plasma membrane	IDA
GO:0006260	Process	DNA replication	IEA
GO:0006260	Process	DNA replication	IMP	16762037
GO:0006260	Process	DNA replication	TAS	8486689
GO:0006261	Process	DNA-templated DNA replication	IDA	33051204
GO:0006261	Process	DNA-templated DNA replication	IEA
GO:0006272	Process	Leading strand elongation	IBA
GO:0006281	Process	DNA repair	IEA
GO:0006287	Process	Base-excision repair, gap-filling	IBA
GO:0006287	Process	Base-excision repair, gap-filling	IDA	10559260
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IBA
GO:0006297	Process	Nucleotide-excision repair, DNA gap filling	IMP	20227374
GO:0006974	Process	DNA damage response	IEA
GO:0008270	Function	Zinc ion binding	IEA
GO:0008310	Function	Single-stranded DNA 3'-5' DNA exonuclease activity	IBA
GO:0008622	Component	Epsilon DNA polymerase complex	IBA
GO:0008622	Component	Epsilon DNA polymerase complex	IDA	10801849, 22465957
GO:0008622	Component	Epsilon DNA polymerase complex	IEA
GO:0008622	Component	Epsilon DNA polymerase complex	IPI	10801849
GO:0016740	Function	Transferase activity	IEA
GO:0016779	Function	Nucleotidyltransferase activity	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0034061	Function	DNA polymerase activity	IEA
GO:0045004	Process	DNA replication proofreading	IBA
GO:0046872	Function	Metal ion binding	IEA
GO:0048568	Process	Embryonic organ development	IEA
GO:0051536	Function	Iron-sulfur cluster binding	IEA
GO:0051539	Function	4 iron, 4 sulfur cluster binding	IEA
GO:0071897	Process	DNA biosynthetic process	IEA

MIM	HGNC	e!Ensembl
174762	9177	ENSG00000177084

Protein

UniProt ID

Q07864

Protein name

DNA polymerase epsilon catalytic subunit A (EC 2.7.7.7) (3'-5' exodeoxyribonuclease) (EC 3.1.11.-) (DNA polymerase II subunit A)

Protein function

Catalytic component of the DNA polymerase epsilon complex (PubMed:10801849). Participates in chromosomal DNA replication (By similarity). Required during synthesis of the leading DNA strands at the replication fork, binds at/or near replication

PDB

5VBN , 7PFO , 7PLO , 9B8S , 9B8T , 9F6D , 9F6E , 9F6F , 9F6I , 9F6J , 9F6K , 9F6L

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03104	DNA_pol_B_exo1	86 → 427	DNA polymerase family B, exonuclease domain	Family
PF00136	DNA_pol_B	620 → 1147	DNA polymerase family B	Family
PF08490	DUF1744	1536 → 1925	Domain of unknown function (DUF1744)	Domain

Sequence

MSLRSGGRRRADPGADGEASRDDGATSSVSALKRLERSQWTDKMDLRFGFERLKEPGEKT
GWLINMHPTEILDEDKRLGSAVDYYFIQDDGSRFKVALPYKPYFYIATRKGCEREVSSFL
SKKFQGKIAKVETVPKEDLDLPNHLVGLKRNYIRLSFHTVEDLVKVRKEISPAVKKNREQ
DHASDAYTALLSSVLQRGGVITDEEETSKKIADQLDNIVDMREYDVPYHIRLSIDLKIHV
AHWYNVRYRGNAFPVEITRRDDLVERPDPVVLAFDIETTKLPLKFPDAETDQIMMISYMI
DGQGYLITNREIVSEDIEDFEFTPKPEYEGPFCVFNEPDEAHLIQRWFEHVQETKPTIMV
TYNGDFFDWPFVEARAAVHGLSMQQEIGFQKDSQGEYKAPQCIHMDCLRWVKRDSYLPVG
SHNLKAAAKAKLGYDPVELDPEDMCRMATEQPQTLATYSVSDAVATYYLYMKYVHPFIFA
LCTIIPMEPDEVLRKGSGTLCEALLMVQAFHANIIFPNKQEQEFNKLTDDGHVLDSETYV
GGHVEALESGVFRSDIPCRFRMNPAAFDFLLQRVEKTLRHALEEEEKVPVEQVTNFEEVC
DEIKSKLASLKDVPSRIECPLIYHLDVGAMYPNIILTNRLQPSAMVDEATCAACDFNKPG
ANCQRKMAWQWRGEFMPASRSEYHRIQHQLESEKFPPLFPEGPARAFHELSREEQAKYEK
RRLADYCRKAYKKIHITKVEERLTTICQRENSFYVDTVRAFRDRRYEFKGLHKVWKKKLS
AAVEVGDAAEVKRCKNMEVLYDSLQLAHKCILNSFYGYVMRKGARWYSMEMAGIVCFTGA
NIITQARELIEQIGRPLELDTDGIWCVLPNSFPENFVFKTTNVKKPKVTISYPGAMLNIM
VKEGFTNDQYQELAEPSSLTYVTRSENSIFFEVDGPYLAMILPASKEEGKKLKKRYAVFN
EDGSLAELKGFEVKRRGELQLIKIFQSSVFEAFLKGSTLEEVYGSVAKVADYWLDVLYSK
AANMPDSELFELISENRSMSRKLEDYGEQKSTSISTAKRLAEFLGDQMVKDAGLSCRYII
SRKPEGSPVTERAIPLAIFQAEPTVRKHFLRKWLKSSSLQDFDIRAILDWDYYIERLGSA
IQKIITIPAALQQVKNPVPRVKHPDWLHKKLLEKNDVYKQKKISELFTLEGRRQVTMAEA
SEDSPRPSAPDMEDFGLVKLPHPAAPVTVKRKRVLWESQEESQDLTPTVPWQEILGQPPA
LGTSQEEWLVWLRFHKKKWQLQARQRLARRKRQRLESAEGVLRPGAIRDGPATGLGSFLR
RTARSILDLPWQIVQISETSQAGLFRLWALVGSDLHCIRLSIPRVFYVNQRVAKAEEGAS
YRKVNRVLPRSNMVYNLYEYSVPEDMYQEHINEINAELSAPDIEGVYETQVPLLFRALVH
LGCVCVVNKQLVRHLSGWEAETFALEHLEMRSLAQFSYLEPGSIRHIYLYHHAQAHKALF
GIFIPSQRRASVFVLDTVRSNQMPSLGALYSAEHGLLLEKVGPELLPPPKHTFEVRAETD
LKTICRAIQRFLLAYKEERRGPTLIAVQSSWELKRLASEIPVLEEFPLVPICVADKINYG
VLDWQRHGARRMIRHYLNLDTCLSQAFEMSRYFHIPIGNLPEDISTFGSDLFFARHLQRH
NHLLWLSPTARPDLGGKEADDNCLVMEFDDQATVEINSSGCYSTVCVELDLQNLAVNTIL
QSHHVNDMEGADSMGISFDVIQQASLEDMITGGQAASAPASYDETALCSNTFRILKSMVV
GWVKEITQYHNIYADNQVMHFYRWLRSPSSLLHDPALHRTLHNMMKKLFLQLIAEFKRLG
SSVIYANFNRIILCTKKRRVEDAIAYVEYITSSIHSKETFHSLTISFSRCWEFLLWMDPS
NYGGIKGKVSSRIHCGLQDSQKAGGAEDEQENEDDEEERDGEEEEEAEESNVEDLLENNW
NILQFLPQAASCQNYFLMIVSAYIVAVYHCMKDGLRRSAPGSTPVRRRGASQLSQEAEGA
VGALPGMITFSQDYVANELTQSFFTITQKIQKKVTGSRNSTELSEMFPVLPGSHLLLNNP
ALEFIKYVCKVLSLDTNITNQVNKLNRDLLRLVDVGEFSEEAQFRDPCRSYVLPEVICRS
CNFCRDLDLCKDSSFSEDGAVLPQWLCSNCQAPYDSSAIEMTLVEVLQKKLMAFTLQDLV
CLKCRGVKETSMPVYCSCAGDFALTIHTQVFMEQIGIFRNIAQHYGMSYLLETLEWLLQK
NPQLGH

Sequence length

2286

Interactions

View interactions

	KEGG		Reactome
	DNA replication Base excision repair Nucleotide excision repair		Recognition of DNA damage by PCNA-containing replication complex PCNA-Dependent Long Patch Base Excision Repair Termination of translesion DNA synthesis HDR through Homologous Recombination (HRR) Gap-filling DNA repair synthesis and ligation in GG-NER Dual Incision in GG-NER Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER DNA replication initiation Activation of the pre-replicative complex

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
colorectal cancer	Colorectal cancer, susceptibility to, 12	rs483352909, rs1057519256, rs1565986506, rs761329565	N/A
Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome	facial dysmorphism-immunodeficiency-livedo-short stature syndrome	rs780843358	N/A
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency	rs1555222342, rs1196356920, rs762985435	N/A

Show/Hide Unknown Diseases (9)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Adenomatous Polyposis	polymerase proofreading-related adenomatous polyposis, Polymerase proofreading-related adenomatous polyposis	N/A	N/A	ClinVar, GenCC
Breast Cancer	Malignant tumor of breast	N/A	N/A	ClinVar
colon cancer	Colon cancer	N/A	N/A	ClinVar
Endometrial carcinoma	endometrial carcinoma	N/A	N/A	ClinVar
hereditary cancer	Hereditary cancer	N/A	N/A	ClinVar
IMAGe Syndrome	IMAGe syndrome	N/A	N/A	GenCC
neoplasm	Neoplasm	N/A	N/A	ClinVar
Ovarian cancer	Familial ovarian cancer	N/A	N/A	ClinVar
XFE Progeroid Syndrome	xfe progeroid syndrome	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (15)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Adrenal Gland Diseases	Associate	30503519
Autistic Disorder	Associate	30503519
Colorectal Neoplasms	Associate	25860647, 33764464
Endometrial Neoplasms	Associate	29955143, 33174010
Facial Dysmorphism with Multiple Malformations	Associate	23230001
Fetal Growth Retardation	Associate	30503519
Growth Disorders	Associate	23230001
Immune System Diseases	Associate	30503519
Immunologic Deficiency Syndromes	Associate	23230001, 30503519
Intrauterine Growth Retardation Metaphyseal Dysplasia Adrenal Hypoplasia Congenita And Genital Anomalies	Associate	30503519
Leukemia Lymphoid	Associate	30503519
Livedoid Vasculopathy	Associate	23230001
Neoplasms	Associate	33764464
Ovarian Neoplasms	Associate	25860647
Urogenital Abnormalities	Associate	30503519

POLE (DNA polymerase epsilon, catalytic subunit)