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	POLR2G
Symbol Alias	hRPB19, hsRPB7, RPB7
Approved Name	polymerase (RNA) II (DNA directed) polypeptide G
Location	11q13.1
Position	chr11:62529011-62534187, +
External Links	HGNC: 9194 Entrez Gene: 5436 Ensembl: ENSG00000168002 UCSC: uc001nva.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: 20)

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

GO terms by database search (count: 20)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0008380	RNA splicing	Biological Process		65
GO:0010467	gene expression	Biological Process		140
GO:0006468	protein phosphorylation	Biological Process	IDA[9852112]	53
GO:0006915	apoptotic process	Biological Process		111
GO:0016032	viral reproduction	Biological Process		57
GO:0050434	positive regulation of viral transcription	Biological Process		6
GO:0006366	transcription from RNA polymerase II promoter	Biological Process	IDA[9852112]	62
GO:0006367	transcription initiation from RNA polymerase II promoter	Biological Process		42
GO:0006368	transcription elongation from RNA polymerase II promoter	Biological Process		10
GO:0006370	7-methylguanosine mRNA capping	Biological Process		3
GO:0005665	DNA-directed RNA polymerase II, core complex	Cellular Component	IDA[9852112]	2
GO:0006281	DNA repair	Biological Process		62
GO:0006283	transcription-coupled nucleotide-excision repair	Biological Process		6
GO:0006289	nucleotide-excision repair	Biological Process		12
GO:0003899	DNA-directed RNA polymerase activity	Molecular Function		3
GO:0004672	protein kinase activity	Molecular Function	IDA[9852112]	27
GO:0005634	nucleus	Cellular Component	IDA[9852112]	770
GO:0005654	nucleoplasm	Cellular Component		183
GO:0000398	mRNA splicing, via spliceosome	Biological Process		54
GO:0003723	RNA binding	Molecular Function		104

Gene related KEGG pathways (count: 5)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa03020	RNA polymerase	3
hsa00230	Purine metabolism	22
hsa01100	Metabolic pathways	237
hsa00240	Pyrimidine metabolism	13
hsa05016	Huntington's disease	28	Huntington disease (HD) is an autosomal-dominant neurodegene...... Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). The symptoms are choreiform, involuntary movements, personality changes and dementia. HD is caused by a CAG repeat expansion in the IT15gene, which results in a long stretch of polyglutamine close to the amino-terminus of the HD protein huntingtin (Htt). Mutant Htt (mHtt) has effects both in the cytoplasm and in the nucleus. In the cytoplasm, full-length mHtt can interfere with BDNF vesicular transport on microtubules. This mutant protein also may lead to abnormal endocytosis and secretion in neurons, because normal Htt form a complex with the proteins Hip1, clathrin and AP2 that are involved in endocytosis. In addition, mHtt affects Ca2+ signaling by sensitizing InsP3R1 to activation by InsP3, stimulating NMDAR activity, and destabilizing mitochondrial Ca2+ handling. The mHtt translocates to the nucleus, where it forms intranuclear inclusions. Nuclear toxicity is believed to be caused by interference with gene transcription, leading to loss of transcription of neuroprotective molecules such as BDNF. While mHtt binds to p53 and upregulates levels of nuclear p53 as well as p53 transcriptional activity. Augmented p53 mediates mitochondrial dysfunction. More...

Genes shared at least 5 GO terms with POLR2G (count: 53)

Gene Symbol	Pathway Count	Pathway List
GTF2H3	13	gene expression; protein phosphorylation; viral reproduction; positive regulation of viral transcription; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; 7-methylguanosine mRNA capping; DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; protein kinase activity; nucleoplasm;
NCBP1	11	RNA splicing; gene expression; viral reproduction; positive regulation of viral transcription; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; 7-methylguanosine mRNA capping; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SSRP1	8	gene expression; viral reproduction; positive regulation of viral transcription; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; DNA repair; nucleus; nucleoplasm;
CPSF7	7	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
U2AF1	7	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
TAF10	7	gene expression; viral reproduction; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; nucleus; nucleoplasm;
TAF13	7	gene expression; viral reproduction; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; nucleus; nucleoplasm;
TAF4B	7	gene expression; viral reproduction; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; nucleus; nucleoplasm;
CPSF3	6	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
FUS	6	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
HNRNPA1	6	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
HNRNPA2B1	6	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
HNRNPH1	6	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
PRPF6	6	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SF3A1	6	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SMC1A	6	RNA splicing; gene expression; DNA repair; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
SNRPD1	6	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SNRPF	6	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SNRPG	6	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
U2AF2	6	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
TCEB1	6	gene expression; viral reproduction; positive regulation of viral transcription; transcription from RNA polymerase II promoter; transcription elongation from RNA polymerase II promoter; nucleoplasm;
UBB	6	gene expression; apoptotic process; viral reproduction; transcription initiation from RNA polymerase II promoter; DNA repair; nucleoplasm;
UBC	6	gene expression; apoptotic process; viral reproduction; transcription initiation from RNA polymerase II promoter; DNA repair; nucleoplasm;
CD2BP2	5	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
CDC40	5	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome;
CLP1	5	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome;
DDX23	5	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
DHX9	5	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
EFTUD2	5	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
HNRNPC	5	RNA splicing; gene expression; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
PCF11	5	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome;
PRPF4	5	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
PRPF8	5	RNA splicing; gene expression; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SF3A3	5	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
SF3B2	5	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
SF3B4	5	RNA splicing; gene expression; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SNRNP200	5	RNA splicing; gene expression; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
SNRPA	5	RNA splicing; gene expression; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SNRPA1	5	RNA splicing; gene expression; nucleoplasm; mRNA splicing, via spliceosome; RNA binding;
SNRPB	5	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome;
SNRPD3	5	RNA splicing; gene expression; transcription from RNA polymerase II promoter; nucleoplasm; mRNA splicing, via spliceosome;
MAML1	5	gene expression; protein phosphorylation; transcription initiation from RNA polymerase II promoter; nucleus; nucleoplasm;
MAPK3	5	gene expression; protein phosphorylation; apoptotic process; nucleus; nucleoplasm;
MED16	5	gene expression; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; nucleus; nucleoplasm;
MED4	5	gene expression; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; nucleus; nucleoplasm;
MEN1	5	gene expression; transcription initiation from RNA polymerase II promoter; DNA repair; nucleus; nucleoplasm;
NCOR1	5	gene expression; transcription from RNA polymerase II promoter; transcription initiation from RNA polymerase II promoter; nucleus; nucleoplasm;
PSMC3	5	gene expression; apoptotic process; viral reproduction; nucleus; nucleoplasm;
SNW1	5	gene expression; transcription initiation from RNA polymerase II promoter; nucleus; nucleoplasm; mRNA splicing, via spliceosome;
ERCC8	5	DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nucleus; nucleoplasm;
POLD3	5	DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nucleus; nucleoplasm;
POLD4	5	DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nucleus; nucleoplasm;
POLE	5	DNA repair; transcription-coupled nucleotide-excision repair; nucleotide-excision repair; nucleus; nucleoplasm;

Genes shared at least 2 KEGG pathways with POLR2G (count: 30)

Gene Symbol	Pathway Count	Pathway List
POLR1A	4	RNA polymerase; Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLR3E	3	RNA polymerase; Purine metabolism; Pyrimidine metabolism;
ITPA	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
NT5M	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLA2	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLD3	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLD4	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLE	3	Purine metabolism; Metabolic pathways; Pyrimidine metabolism;
POLE3	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;
COX4I1	2	Metabolic pathways; Huntington's disease;
COX7B2	2	Metabolic pathways; Huntington's disease;
COX8A	2	Metabolic pathways; Huntington's disease;
NDUFA4L2	2	Metabolic pathways; Huntington's disease;
NDUFA5	2	Metabolic pathways; Huntington's disease;
NDUFA8	2	Metabolic pathways; Huntington's disease;
NDUFAB1	2	Metabolic pathways; Huntington's disease;
NDUFC2	2	Metabolic pathways; Huntington's disease;
NDUFS3	2	Metabolic pathways; Huntington's disease;
NDUFS8	2	Metabolic pathways; Huntington's disease;
NDUFV1	2	Metabolic pathways; Huntington's disease;
PLCB2	2	Metabolic pathways; Huntington's disease;
PLCB3	2	Metabolic pathways; Huntington's disease;
SDHD	2	Metabolic pathways; Huntington's disease;
UPB1	2	Metabolic pathways; Pyrimidine metabolism;
UQCRC2	2	Metabolic pathways; Huntington's disease;

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Region: chr11:62529011..62534187 View in gBrowse