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	PLN
Previous Symbol	PLB
Symbol Alias	CMD1P
Approved Name	phospholamban
Location	6q22.1
Position	chr6:118869442-118881893, +
External Links	HGNC: 9080 Entrez Gene: 5350 Ensembl: ENSG00000198523 UCSC: uc003pye.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)
6q22-23	chr6:114600000-139000000	1 (1/0/0)

Gene related GO terms (count: 37)

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

GO terms by database search (count: 37)

ID	Name	Type	Evidence[PMID]	No. of Genes in ADHDgene
GO:1901897	regulation of relaxation of cardiac muscle	Biological Process	IC[19708671]	1
GO:1901895	negative regulation of calcium-transporting ATPase activity	Biological Process	IDA[19708671]	1
GO:0043234	protein complex	Cellular Component		45
GO:0048471	perinuclear region of cytoplasm	Cellular Component		87
GO:0048738	cardiac muscle tissue development	Biological Process		1
GO:0051117	ATPase binding	Molecular Function	ISS[12032137]	7
GO:0051480	cytosolic calcium ion homeostasis	Biological Process	IC[19708671]	6
GO:0051924	regulation of calcium ion transport	Biological Process		9
GO:0051926	negative regulation of calcium ion transport	Biological Process	IDA[19708671]	4
GO:0055119	relaxation of cardiac muscle	Biological Process		1
GO:0060314	regulation of ryanodine-sensitive calcium-release channel activity	Biological Process		3
GO:0086004	regulation of cardiac muscle cell contraction	Biological Process	IC[19708671]	2
GO:0086023	adrenergic receptor signaling pathway involved in heart process	Biological Process		1
GO:0086036	regulation of cardiac muscle cell membrane potential	Biological Process	IC[19708671]	2
GO:0086092	regulation of the force of heart contraction by cardiac conduction	Biological Process		1
GO:0090281	negative regulation of calcium ion import	Biological Process	ISS[12032137]	2
GO:1901020	negative regulation of calcium ion transmembrane transporter activity	Biological Process	IDA[19708671]	3
GO:1901877	negative regulation of calcium ion binding	Biological Process	IDA[19708671]	2
GO:0042802	identical protein binding	Molecular Function		70
GO:0043086	negative regulation of catalytic activity	Biological Process	ISS[12032137]	7
GO:0032780	negative regulation of ATPase activity	Biological Process	IDA[19708671]	1
GO:0042030	ATPase inhibitor activity	Molecular Function	IDA[19708671]	1
GO:0031966	mitochondrial membrane	Cellular Component		12
GO:0031982	vesicle	Cellular Component		6
GO:0016021	integral to membrane	Cellular Component		845
GO:0016529	sarcoplasmic reticulum	Cellular Component		11
GO:0010881	regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion	Biological Process		4
GO:0016020	membrane	Cellular Component	IDA[19708671]	139
GO:0008016	regulation of heart contraction	Biological Process	IMP[16432188]	8
GO:0010459	negative regulation of heart rate	Biological Process	IMP[16432188]	1
GO:0006816	calcium ion transport	Biological Process		32
GO:0008015	blood circulation	Biological Process	NAS[8406504]	12
GO:0005515	protein binding	Molecular Function	IPI[15598648]	910
GO:0005783	endoplasmic reticulum	Cellular Component		100
GO:0005246	calcium channel regulator activity	Molecular Function		10
GO:0004857	enzyme inhibitor activity	Molecular Function	ISS[12032137]	9
GO:0002026	regulation of the force of heart contraction	Biological Process	IC[19708671]	1

Gene related KEGG pathways (count: 2)

ID	Name	No. of Genes in ADHDgene	Brief Description
hsa05414	Dilated cardiomyopathy	23	Dilated cardiomyopathy (DCM) is a heart muscle disease chara...... Dilated cardiomyopathy (DCM) is a heart muscle disease characterised by dilation and impaired contraction of the left or both ventricles that results in progressive heart failure and sudden cardiac death from ventricular arrhythmia. Genetically inherited forms of DCM ("familial" DCM) have been identified in 25-35% of patients presenting with this disease, and the inherited gene defects are an important cause of "familial" DCM. The pathophysiology may be separated into two categories: defects in force generation and defects in force transmission. In cases where an underlying pathology cannot be identified, the patient is diagnosed with an "idiopathic" DCM. Current hypotheses regarding causes of "idiopathic" DCM focus on myocarditis induced by enterovirus and subsequent autoimmune myocardium impairments. Antibodies to the beta1-adrenergic receptor (beta1AR), which are detected in a substantial number of patients with "idiopathic" DCM, may increase the concentration of intracellular cAMP and intracellular Ca2+, a condition often leading to a transient hyper-performance of the heart followed by depressed heart function and heart failure. More...
hsa04020	Calcium signaling pathway	63	Ca2+ that enters the cell from the outside is a principal so...... Ca2+ that enters the cell from the outside is a principal source of signal Ca2+. Entry of Ca2+ is driven by the presence of a large electrochemical gradient across the plasma membrane. Cells use this external source of signal Ca2+ by activating various entry channels with widely different properties. The voltage-operated channels (VOCs) are found in excitable cells and generate the rapid Ca2+ fluxes that control fast cellular processes. There are many other Ca2+-entry channels, such as the receptor-operated channels (ROCs), for example the NMDA (N-methyl-D-aspartate) receptors (NMDARs) that respond to glutamate. There also are second-messenger-operated channels (SMOCs) and store-operated channels (SOCs). More...

Genes shared at least 5 GO terms with PLN (count: 7)

Gene Symbol	Pathway Count	Pathway List
SLN	10	ATPase binding; regulation of calcium ion transport; negative regulation of calcium ion import; negative regulation of calcium ion transmembrane transporter activity; negative regulation of calcium ion binding; negative regulation of catalytic activity; integral to membrane; sarcoplasmic reticulum; calcium ion transport; enzyme inhibitor activity;
RYR2	8	protein complex; cytosolic calcium ion homeostasis; identical protein binding; sarcoplasmic reticulum; regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion; membrane; calcium ion transport; protein binding;
NPC1	5	perinuclear region of cytoplasm; vesicle; integral to membrane; protein binding; endoplasmic reticulum;
CDH23	5	cytosolic calcium ion homeostasis; integral to membrane; membrane; calcium ion transport; protein binding;
CAV3	5	negative regulation of calcium ion transport; vesicle; regulation of heart contraction; protein binding; calcium channel regulator activity;
GRIN3A	5	identical protein binding; integral to membrane; membrane; calcium ion transport; protein binding;
REEP1	5	mitochondrial membrane; integral to membrane; membrane; protein binding; endoplasmic reticulum;

Genes shared at least 2 KEGG pathways with PLN (count: 7)

Gene Symbol	Pathway Count	Pathway List
ADCY4	2	Dilated cardiomyopathy; Calcium signaling pathway;
ADRB1	2	Dilated cardiomyopathy; Calcium signaling pathway;
CACNA1C	2	Dilated cardiomyopathy; Calcium signaling pathway;
CACNA1D	2	Dilated cardiomyopathy; Calcium signaling pathway;
CACNA1F	2	Dilated cardiomyopathy; Calcium signaling pathway;
CACNA1S	2	Dilated cardiomyopathy; Calcium signaling pathway;
RYR2	2	Dilated cardiomyopathy; Calcium signaling pathway;

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Region: chr6:118869442..118881893 View in gBrowse