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	PRKAB2
Approved Name	protein kinase, AMP-activated, beta 2 non-catalytic subunit
Name Alias	AMPK beta 2
Location	1q21.2
Position	chr1:146626685-146644129, -
External Links	HGNC: 9379 Entrez Gene: 5565 Ensembl: ENSG00000131791 UCSC: uc001epe.2
No. of Studies	0 (significant: 0; non-significant: 0; trend: 0)
Source	Mapped by CNV

Gene related studies (count: 0)

Gene related SNPs (count: 0)

Gene related CNVs (count: 1)

ID	Location	Size	Band	Type	Inheritance
CNV_Jarick[2012]_2	chr1:144943150-146293282 (NCBI36 / hg18)	1350133	1q21.1	del

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 16)

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

GO terms by database search (count: 16)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:0005829	cytosol	Cellular Component		447
GO:0005654	nucleoplasm	Cellular Component		183
GO:0006633	fatty acid biosynthetic process	Biological Process		16
GO:0006112	energy reserve metabolic process	Biological Process		25
GO:0007050	cell cycle arrest	Biological Process		25
GO:0006853	carnitine shuttle	Biological Process		3
GO:0008286	insulin receptor signaling pathway	Biological Process		32
GO:0007165	signal transduction	Biological Process	TAS[9575201]	171
GO:0042304	regulation of fatty acid biosynthetic process	Biological Process		2
GO:0031588	AMP-activated protein kinase complex	Cellular Component	IDA[17851531]	4
GO:0044255	cellular lipid metabolic process	Biological Process		30
GO:0042802	identical protein binding	Molecular Function		70
GO:0046320	regulation of fatty acid oxidation	Biological Process		5
GO:0044281	small molecule metabolic process	Biological Process		248
GO:0004679	AMP-activated protein kinase activity	Molecular Function		3
GO:0005515	protein binding	Molecular Function		910

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 PRKAB2 (count: 8)

Gene Symbol	Pathway Count	Pathway List
PRKAG2	12	cytosol; nucleoplasm; fatty acid biosynthetic process; energy reserve metabolic process; cell cycle arrest; carnitine shuttle; insulin receptor signaling pathway; regulation of fatty acid biosynthetic process; AMP-activated protein kinase complex; cellular lipid metabolic process; regulation of fatty acid oxidation; small molecule metabolic process;
PRKAA1	9	cytosol; fatty acid biosynthetic process; cell cycle arrest; insulin receptor signaling pathway; signal transduction; AMP-activated protein kinase complex; regulation of fatty acid oxidation; AMP-activated protein kinase activity; protein binding;
PRKAG3	7	cytosol; fatty acid biosynthetic process; cell cycle arrest; insulin receptor signaling pathway; AMP-activated protein kinase complex; regulation of fatty acid oxidation; AMP-activated protein kinase activity;
ACACA	6	cytosol; fatty acid biosynthetic process; energy reserve metabolic process; cellular lipid metabolic process; small molecule metabolic process; protein binding;
MAPK1	5	cytosol; nucleoplasm; insulin receptor signaling pathway; signal transduction; protein binding;
PRKD1	5	cytosol; signal transduction; identical protein binding; small molecule metabolic process; protein binding;
TXN	5	cytosol; nucleoplasm; signal transduction; small molecule metabolic process; protein binding;
CPT1A	5	carnitine shuttle; cellular lipid metabolic process; identical protein binding; regulation of fatty acid oxidation; small molecule metabolic process;

Genes shared at least 2 KEGG pathways with PRKAB2 (count: 4)

Gene Symbol	Pathway Count	Pathway List
PRKAA1	3	Hypertrophic cardiomyopathy (HCM); Adipocytokine signaling pathway; Insulin signaling pathway;
PRKAG2	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: chr1:146626685..146644129 View in gBrowse