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	PRKAG2
Symbol Alias	AAKG, AAKG2, H91620p, WPWS, CMH6
Approved Name	protein kinase, AMP-activated, gamma 2 non-catalytic subunit
Name Alias	AMPK gamma2
Location	7q35-q36
Position	chr7:151253200-151574316, -
External Links	HGNC: 9386 Entrez Gene: 51422 Ensembl: ENSG00000106617 UCSC: uc003wkk.2
No. of Studies	1 (significant: 0; non-significant: 0; trend: 1)
Source	Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 1)

Reference	Statistical Values/Author Comments	Result of Statistical Analysis
Neale BM, 2010 (a)	1 SNPs of top 50 hits located within the gene	Trend

Gene related SNPs (count: 3)

Literature-origin SNPs (count: 1)

rs_ID	Location	Functional Annotation	No. of Studies (significant/non-significant/trend)
rs7809589	Chr7:151473813(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant	1(0/0/1)

LD-proxies (count: 2)

rs_ID	Location	Functional Annotation
rs7809018	Chr7:151473667(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant
rs7792110	Chr7:151473511(Fwd)	NMD_transcript_variant; intron_variant; nc_transcript_variant

Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 29)

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

GO terms by database search (count: 29)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005524	ATP binding	Molecular Function	IDA[15877279]	228
GO:0004862	cAMP-dependent protein kinase inhibitor activity	Molecular Function	IDA[17255938]	2
GO:0031588	AMP-activated protein kinase complex	Cellular Component	IDA[15877279]	4
GO:0030295	protein kinase activator activity	Molecular Function	IMP[15877279]	2
GO:0019901	protein kinase binding	Molecular Function	IDA[10698692]	51
GO:0019217	regulation of fatty acid metabolic process	Biological Process	IMP[15877279]	2
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0044255	cellular lipid metabolic process	Biological Process		30
GO:0043531	ADP binding	Molecular Function	IDA[15877279]	1
GO:0042304	regulation of fatty acid biosynthetic process	Biological Process		2
GO:0046324	regulation of glucose import	Biological Process	TAS[11827995]	1
GO:0046320	regulation of fatty acid oxidation	Biological Process	TAS[9208914]	5
GO:0045860	positive regulation of protein kinase activity	Biological Process	IMP[15877279]	7
GO:0005977	glycogen metabolic process	Biological Process	IMP[11827995]	6
GO:0006110	regulation of glycolysis	Biological Process	IMP[15877279]	1
GO:0005654	nucleoplasm	Cellular Component		183
GO:0005829	cytosol	Cellular Component		447
GO:0006633	fatty acid biosynthetic process	Biological Process		16
GO:0006754	ATP biosynthetic process	Biological Process	TAS[11371514]	6
GO:0006112	energy reserve metabolic process	Biological Process		25
GO:0006469	negative regulation of protein kinase activity	Biological Process	IDA[17255938]	13
GO:0007243	intracellular protein kinase cascade	Biological Process	IMP[15877279]	19
GO:0008286	insulin receptor signaling pathway	Biological Process		32
GO:0006853	carnitine shuttle	Biological Process		3
GO:0007050	cell cycle arrest	Biological Process		25
GO:0010800	positive regulation of peptidyl-threonine phosphorylation	Biological Process	IMP[15877279]	4
GO:0016126	sterol biosynthetic process	Biological Process	TAS[9208914]	2
GO:0008603	cAMP-dependent protein kinase regulator activity	Molecular Function	IMP[15877279]	4
GO:0008607	phosphorylase kinase regulator activity	Molecular Function	IMP[15877279]	2

Gene related KEGG pathways (count: 3)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05410	Hypertrophic cardiomyopathy (HCM)	25	Hypertrophic cardiomyopathy (HCM) is a primary myocardial di...... Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal dominant pattern of inheritance that is characterized by hypertrophy of the left ventricles with histological features of myocyte hypertrophy, myfibrillar disarray, and interstitial fibrosis. HCM is one of the most common inherited cardiac disorders, with a prevalence in young adults of 1 in 500. Hundreds of mutations in 11 genes that encode protein constituents of the sarcomere have been identified in HCM. These mutations increase the Ca2+ sensitivity of cardiac myofilaments. Increased myofilament Ca2+ sensitivity is expected to increase the ATP utilization by actomyosin at submaximal Ca2+ concentrations, which might cause an imbalance in energy supply and demand in the heart under severe stress. The inefficient use of ATP suggests that an inability to maintain normal ATP levels could be the central abnormality. This theory might be supported by the discovery of the role of a mutant PRKAG2 gene in HCM, which in active form acts as a central sensing mechanism protecting cells from depletion of ATP supplies. The increase in the myfilament Ca2+ sensitivity well account for the diastolic dysfunction of model animals as well as human patients of HCM. It has been widely proposed that left ventricular hypertrophy is not a primary manifestation but develops as compensatory response to sarcomere dysfunction. More...
hsa04920	Adipocytokine signaling pathway	8	Increased adipocyte volume and number are positively correla...... Increased adipocyte volume and number are positively correlated with leptin production, and negatively correlated with production of adiponectin. More...
hsa04910	Insulin signaling pathway	29	Insulin binding to its receptor results in the tyrosine phos...... Insulin binding to its receptor results in the tyrosine phosphorylation of insulin receptor substrates (IRS) by the insulin receptor tyrosine kinase (INSR). This allows association of IRSs with the regulatory subunit of phosphoinositide 3-kinase (PI3K). PI3K activates 3-phosphoinositide-dependent protein kinase 1 (PDK1), which activates Akt, a serine kinase. Akt in turn deactivates glycogen synthase kinase 3 (GSK-3), leading to activation of glycogen synthase (GYS) and thus glycogen synthesis. Activation of Akt also results in the translocation of GLUT4 vesicles from their intracellular pool to the plasma membrane, where they allow uptake of glucose into the cell. Akt also leads to mTOR-mediated activation of protein synthesis by eIF4 and p70S6K. The translocation of GLUT4 protein is also elicited through the CAP/Cbl/TC10 pathway, once Cbl is phosphorylated by INSR. More...

Genes shared at least 5 GO terms with PRKAG2 (count: 9)

Gene Symbol	Pathway Count	Pathway List
PRKAB2	12	AMP-activated protein kinase complex; small molecule metabolic process; cellular lipid metabolic process; regulation of fatty acid biosynthetic process; regulation of fatty acid oxidation; nucleoplasm; cytosol; fatty acid biosynthetic process; energy reserve metabolic process; insulin receptor signaling pathway; carnitine shuttle; cell cycle arrest;
PRKAG3	9	ATP binding; AMP-activated protein kinase complex; protein kinase binding; regulation of fatty acid oxidation; cytosol; fatty acid biosynthetic process; intracellular protein kinase cascade; insulin receptor signaling pathway; cell cycle arrest;
PRKAA1	7	ATP binding; AMP-activated protein kinase complex; regulation of fatty acid oxidation; cytosol; fatty acid biosynthetic process; insulin receptor signaling pathway; cell cycle arrest;
ACACA	6	ATP binding; small molecule metabolic process; cellular lipid metabolic process; cytosol; fatty acid biosynthetic process; energy reserve metabolic process;
GSK3B	5	ATP binding; protein kinase binding; glycogen metabolic process; cytosol; positive regulation of peptidyl-threonine phosphorylation;
ILK	5	ATP binding; protein kinase binding; cytosol; negative regulation of protein kinase activity; cell cycle arrest;
MAP2K3	5	ATP binding; protein kinase binding; positive regulation of protein kinase activity; nucleoplasm; cytosol;
MAPK1	5	ATP binding; nucleoplasm; cytosol; insulin receptor signaling pathway; positive regulation of peptidyl-threonine phosphorylation;
PLK1	5	ATP binding; protein kinase binding; nucleoplasm; cytosol; positive regulation of peptidyl-threonine phosphorylation;

Genes shared at least 2 KEGG pathways with PRKAG2 (count: 4)

Gene Symbol	Pathway Count	Pathway List
PRKAA1	3	Hypertrophic cardiomyopathy (HCM); Adipocytokine signaling pathway; Insulin signaling pathway;
PRKAB2	3	Hypertrophic cardiomyopathy (HCM); Adipocytokine signaling pathway; Insulin signaling pathway;
PRKAG3	3	Hypertrophic cardiomyopathy (HCM); Adipocytokine signaling pathway; Insulin signaling pathway;
MAPK9	2	Adipocytokine signaling pathway; Insulin signaling pathway;

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Region: chr7:151253200..151574316 View in gBrowse