ADHDgene Database

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Large-scale studies

Data Summary

Published Variant
- SNP: 1391
- CNV: 398
- Others: 173
Published Gene: 359
Published Region: 128
Pathway by PBA: 8
Study: 361

Detail ...

Gene Report

Basic Info

Approved Symbol	POLD4
Symbol Alias	p12, POLDS
Approved Name	polymerase (DNA-directed), delta 4
Name Alias	DNA polymerase delta smallest subunit p12
Location	11q13
Position	chr11:67118248-67124443, -
External Links	HGNC: 14106 Entrez Gene: 57804 Ensembl: ENSG00000175482 UCSC: uc001okm.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by significant region

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 1)

Region Name	Position	No. of Studies (significant/non-significant/trend)
11q	chr11:53700000-135006516	2 (1/1/0)

Gene related GO terms (count: 17)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 17)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0032201	telomere maintenance via semi-conservative replication	Biological Process		5
GO:0006297	nucleotide-excision repair, DNA gap filling	Biological Process		3
GO:0006289	nucleotide-excision repair	Biological Process		12
GO:0006284	base-excision repair	Biological Process		4
GO:0006283	transcription-coupled nucleotide-excision repair	Biological Process		6
GO:0006281	DNA repair	Biological Process		62
GO:0000723	telomere maintenance	Biological Process		10
GO:0001938	positive regulation of endothelial cell proliferation	Biological Process		8
GO:0003887	DNA-directed DNA polymerase activity	Molecular Function		5
GO:0005515	protein binding	Molecular Function	IPI[16510448]	910
GO:0005634	nucleus	Cellular Component	TAS[10751307]	770
GO:0005654	nucleoplasm	Cellular Component		183
GO:0006260	DNA replication	Biological Process	TAS[10751307]	27
GO:0006271	DNA strand elongation involved in DNA replication	Biological Process		6
GO:0000084	S phase of mitotic cell cycle	Biological Process		20
GO:0000278	mitotic cell cycle	Biological Process		63
GO:0000722	telomere maintenance via recombination	Biological Process		6

Gene related KEGG pathways (count: 8)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa00230	Purine metabolism	22
hsa01100	Metabolic pathways	237
hsa03030	DNA replication	7	A complex network of interacting proteins and enzymes is req...... A complex network of interacting proteins and enzymes is required for DNA replication. Generally, DNA replication follows a multistep enzymatic pathway. At the DNA replication fork, a DNA helicase (DnaB or MCM complex) precedes the DNA synthetic machinery and unwinds the duplex parental DNA in cooperation with the SSB or RPA. On the leading strand, replication occurs continuously in a 5 to 3 direction, whereas on the lagging strand, DNA replication occurs discontinuously by synthesis and joining of short Okazaki fragments. In prokaryotes, the leading strand replication apparatus consists of a DNA polymerase (pol III core), a sliding clamp (beta), and a clamp loader (gamma delta complex). The DNA primase (DnaG) is needed to form RNA primers. Normally, during replication of the lagging-strand DNA template, an RNA primer is removed either by an RNase H or by the 5 to 3 exonuclease activity of DNA pol I, and the DNA ligase joins the Okazaki fragments. In eukaryotes, three DNA polymerases (alpha, delta, and epsilon) have been identified. DNA primase forms a permanent complex with DNA polymerase alpha. PCNA and RFC function as a clamp and a clamp loader. FEN 1 and RNase H1 remove the RNA from the Okazaki fragments and DNA ligase I joins the DNA. More...
hsa03430	Mismatch repair	2	DNA mismatch repair (MMR) is a highly conserved biological p...... DNA mismatch repair (MMR) is a highly conserved biological pathway that plays a key role in maintaining genomic stability. MMR corrects DNA mismatches generated during DNA replication, thereby preventing mutations from becoming permanent in dividing cells. MMR also suppresses homologous recombination and was recently shown to play a role in DNA damage signaling. Defects in MMR are associated with genome-wide instability, predisposition to certain types of cancer including HNPCC, resistance to certain chemotherapeutic agents, and abnormalities in meiosis and sterility in mammalian systems. More...
hsa03410	Base excision repair	5	Base excision repair (BER) is the predominant DNA damage rep...... Base excision repair (BER) is the predominant DNA damage repair pathway for the processing of small base lesions, derived from oxidation and alkylation damages. BER is normally defined as DNA repair initiated by lesion-specific DNA glycosylases and completed by either of the two sub-pathways: short-patch BER where only one nucleotide is replaced and long-patch BER where 2-13 nucleotides are replaced. Each sub-pathway of BER relies on the formation of protein complexes that assemble at the site of the DNA lesion and facilitate repair in a coordinated fashion. This process of complex formation appears to provide an increase in specificity and efficiency to the BER pathway, thereby facilitating the maintenance of genome integrity by preventing the accumulation of highly toxic repair intermediates. More...
hsa00240	Pyrimidine metabolism	13
hsa03420	Nucleotide excision repair	9	Nucleotide excision repair (NER) is a mechanism to recognize...... Nucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the NER pathway are linked to at least three diseases: xeroderma pigmentosum (XP), Cockayne syndrome (CS), and trichothiodystrophy (TTD). The repair of damaged DNA involves at least 30 polypeptides within two different sub-pathways of NER known as transcription-coupled repair (TCR-NER) and global genome repair (GGR-NER). TCR refers to the expedited repair of lesions located in the actively transcribed strand of genes by RNA polymerase II (RNAP II). In GGR-NER the first step of damage recognition involves XPC-hHR23B complex together with XPE complex (in prokaryotes, uvrAB complex). The following steps of GGR-NER and TCR-NER are similar. More...
hsa03440	Homologous recombination	7	Homologous recombination (HR) is essential for the accurate ...... Homologous recombination (HR) is essential for the accurate repair of DNA double-strand breaks (DSBs), potentially lethal lesions. HR takes place in the late S-G2 phase of the cell cycle and involves the generation of a single-stranded region of DNA, followed by strand invasion, formation of a Holliday junction, DNA synthesis using the intact strand as a template, branch migration and resolution. It is investigated that RecA/Rad51 family proteins play a central role. The breast cancer susceptibility protein Brca2 and the RecQ helicase BLM (Bloom syndrome mutated) are tumor suppressors that maintain genome integrity, at least in part, through HR. More...

Genes shared at least 5 GO terms with POLD4 (count: 25)

Gene Symbol	Pathway Count	Pathway List
POLD3	15	telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; base-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; telomere maintenance; DNA-directed DNA polymerase activity; protein binding; nucleus; nucleoplasm; DNA strand elongation involved in DNA replication; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination;
POLE	13	telomere maintenance via semi-conservative replication; nucleotide-excision repair, DNA gap filling; nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; telomere maintenance; DNA-directed DNA polymerase activity; nucleus; nucleoplasm; DNA replication; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination;
FEN1	12	telomere maintenance via semi-conservative replication; base-excision repair; DNA repair; telomere maintenance; protein binding; nucleus; nucleoplasm; DNA replication; DNA strand elongation involved in DNA replication; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination;
POLA2	10	telomere maintenance via semi-conservative replication; telomere maintenance; DNA-directed DNA polymerase activity; nucleus; nucleoplasm; DNA replication; DNA strand elongation involved in DNA replication; S phase of mitotic cell cycle; mitotic cell cycle; telomere maintenance via recombination;
CDC45	7	protein binding; nucleus; nucleoplasm; DNA replication; DNA strand elongation involved in DNA replication; S phase of mitotic cell cycle; mitotic cell cycle;
ERCC8	6	nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; protein binding; nucleus; nucleoplasm;
CDT1	6	protein binding; nucleus; nucleoplasm; DNA replication; S phase of mitotic cell cycle; mitotic cell cycle;
DDB1	5	nucleotide-excision repair; DNA repair; protein binding; nucleus; nucleoplasm;
FANCC	5	nucleotide-excision repair; DNA repair; protein binding; nucleus; nucleoplasm;
POLR2G	5	nucleotide-excision repair; transcription-coupled nucleotide-excision repair; DNA repair; nucleus; nucleoplasm;
RAD23B	5	nucleotide-excision repair; DNA repair; protein binding; nucleus; nucleoplasm;
XPA	5	nucleotide-excision repair; DNA repair; protein binding; nucleus; nucleoplasm;
CHEK1	5	DNA repair; protein binding; nucleus; nucleoplasm; DNA replication;
NCOA6	5	DNA repair; protein binding; nucleus; nucleoplasm; DNA replication;
RAD1	5	DNA repair; protein binding; nucleus; nucleoplasm; DNA replication;
RAD9A	5	DNA repair; protein binding; nucleus; nucleoplasm; DNA replication;
SMC1A	5	DNA repair; protein binding; nucleus; nucleoplasm; mitotic cell cycle;
SMC3	5	DNA repair; protein binding; nucleus; nucleoplasm; mitotic cell cycle;
SSRP1	5	DNA repair; protein binding; nucleus; nucleoplasm; DNA replication;
UBB	5	DNA repair; protein binding; nucleoplasm; S phase of mitotic cell cycle; mitotic cell cycle;
UBC	5	DNA repair; protein binding; nucleoplasm; S phase of mitotic cell cycle; mitotic cell cycle;
XRCC5	5	DNA repair; telomere maintenance; protein binding; nucleus; nucleoplasm;
CCND1	5	protein binding; nucleus; nucleoplasm; S phase of mitotic cell cycle; mitotic cell cycle;
GINS2	5	protein binding; nucleoplasm; DNA strand elongation involved in DNA replication; S phase of mitotic cell cycle; mitotic cell cycle;
PSMC3	5	protein binding; nucleus; nucleoplasm; S phase of mitotic cell cycle; mitotic cell cycle;

Genes shared at least 2 KEGG pathways with POLD4 (count: 16)

Gene Symbol	Pathway Count	Pathway List
POLD3	8	Purine metabolism; Metabolic pathways; DNA replication; Mismatch repair; Base excision repair; Pyrimidine metabolism; Nucleotide excision repair; Homologous recombination;
POLE	6	Purine metabolism; Metabolic pathways; DNA replication; Base excision repair; Pyrimidine metabolism; Nucleotide excision repair;
POLE3	6	Purine metabolism; Metabolic pathways; DNA replication; Base excision repair; Pyrimidine metabolism; Nucleotide excision repair;
POLA2	4	Purine metabolism; Metabolic pathways; DNA replication; Pyrimidine metabolism;
ITPA	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
NT5M	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLR1A	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLR2G	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
RRM2	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
APRT	2	Purine metabolism; Metabolic pathways;
ATIC	2	Purine metabolism; Metabolic pathways;
ENPP1	2	Purine metabolism; Metabolic pathways;
ENPP3	2	Purine metabolism; Metabolic pathways;
POLR3E	2	Purine metabolism; Pyrimidine metabolism;
UPB1	2	Metabolic pathways; Pyrimidine metabolism;
FEN1	2	DNA replication; Base excision repair;

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Region: chr11:67118248..67124443 View in gBrowse