Gene Report

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Basic Info

Approved Symbol	POLE2
Symbol Alias	DPE2
Approved Name	polymerase (DNA directed), epsilon 2, accessory subunit
Previous Name	polymerase (DNA directed), epsilon 2 (p59 subunit)
Name Alias	DNA polymerase epsilon subunit B
Location	14q21-q22
Position	chr14:49643555-49688422, -1
External Links	HGNC: 9178 Entrez Gene: 5427 Ensembl: ENSG00000100479 UCSC: uc001wwu.3
No. of Studies	1 (Positive: 1; Negative: 0; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	NO

Gene related studies (count: 1)

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Moskvina, V.,2009		In BP:Smallest P-value per gene=0.00939, Product of P truncation <=0.01=0.00094, Product of P truncation <=0.001=NA. It showed evidence for association with BD.	Positive	Comment on Study

Gene functional annotation

Gene related GO terms (count: 19)

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0003677	DNA binding	molecular function	IEA	83

ID	Name	Type	Evidence[PMID]	No. of Genes in BDgene
GO:0043231	intracellular membrane-bounded organelle	cellular component	IDA	34
GO:0006289	nucleotide-excision repair	biological process	TAS	4
GO:0042276	error-prone translesion synthesis	biological process	IBA	1
GO:0005654	nucleoplasm	cellular component	IDA; TAS	163
GO:0006261	DNA-dependent DNA replication	biological process	IBA	3
GO:0000082	G1/S transition of mitotic cell cycle	biological process	TAS	9
GO:0006260	DNA replication	biological process	TAS[9405441]	7
GO:0006270	DNA replication initiation	biological process	TAS	2
GO:0006283	transcription-coupled nucleotide-excision repair	biological process	TAS	3
GO:0008622	epsilon DNA polymerase complex	cellular component	IDA[10801849]	1
GO:0032201	telomere maintenance via semi-conservative replication	biological process	TAS	3
GO:0003887	DNA-directed DNA polymerase activity	molecular function	IEA	2
GO:0006281	DNA repair	biological process	TAS	16
GO:0000723	telomere maintenance	biological process	TAS	4
GO:0000722	telomere maintenance via recombination	biological process	TAS	3
GO:0000278	mitotic cell cycle	biological process	TAS	33
GO:0005515	protein binding	molecular function	IPI[25416956]	563
GO:0006297	nucleotide-excision repair, DNA gap filling	biological process	TAS	2

Gene related KEGG pathways (count: 5)

ID	Name	No. of Genes in BDgene	Brief Description
hsa00230	Purine metabolism	12
hsa03420	Nucleotide excision repair	3

ID	Name	No. of Genes in BDgene
hsa03030	DNA replication	3
hsa00240	Pyrimidine metabolism	5
hsa03410	Base excision repair	1

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 5)

Gene	Interactor	Interactor in BDgene?	Experiment Type	PMID
POLE2	SAP18	NO	in vitro;yeast 2-hybrid	11872158
POLE2	TLE1	NO	yeast 2-hybrid	16169070
POLE2	C14orf1	NO	yeast 2-hybrid	16169070
POLE2	POLE4	YES	in vitro	10801849
POLE2	EEF1A1	NO	yeast 2-hybrid	16169070

Related other genetic factors

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variants (count: 0)

Gene related regions (count: 5)

Region Name	Position	No. of Studies (Positive/Negative/Trend)
14q21	chr14:37400000-50400000	3 (2/0/1)
14q13.2-21.3	chr14:34800000-50400000	1 (0/1/0)
Chr 14	chr14:0-107043718	2 (0/2/0)
14q12-q22.3	chr14:24100000-57600000	1 (1/0/0)
14q13.1-q24.1	chr14:32900000-69800000	1 (0/1/0)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)

Gene relationship with SZ

Reference	Description	Result Category
19065143	It showed no evidence for association with SZ.	Negative

Gene relationship with MDD

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Region: chr14:49643555..49688422 View in gBrowse