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Gene Report
Basic Info
| Approved Symbol | PRKG1 |
|---|---|
| Previous Symbol | PRKGR1B, PRKG1B |
| Symbol Alias | PGK, PKG |
| Approved Name | protein kinase, cGMP-dependent, type I |
| Location | 10q11.2 |
| Position | chr10:52750945-54058110, + |
| External Links |
HGNC: 9414 Entrez Gene: 5592 Ensembl: ENSG00000185532 UCSC: uc001jjm.2 |
| No. of Studies | 1 (significant: 0; non-significant: 0; trend: 1) |
| Source | Literature-origin; Mapped by CNV; 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 (b) | Trend associated SNP was mapped in this gene. | Trend |
Gene related SNPs (count: 68)
Literature-origin SNPs (count: 13)
| rs_ID | Location | Functional Annotation | No. of Studies (significant/non-significant/trend)  |
|---|---|---|---|
| rs1903979 | Chr10:53774826(Fwd) | intron_variant | 1(0/1/0) |
| rs1903977 | Chr10:53776286(Fwd) | intron_variant | 1(0/0/1) |
| rs1903960 | Chr10:53721176(Fwd) | intron_variant | 1(0/1/0) |
| rs10762539 | Chr10:53788881(Fwd) | intron_variant | 1(0/1/0) |
| rs10762540 | Chr10:53789667(Fwd) | intron_variant | 1(0/1/0) |
| rs10762524 | Chr10:53773912(Fwd) | intron_variant | 1(0/0/1) |
| rs10823954 | Chr10:53773365(Fwd) | intron_variant | 1(0/1/0) |
| rs10823964 | Chr10:53777043(Fwd) | intron_variant | 1(0/0/1) |
| rs10823978 | Chr10:53787957(Fwd) | intron_variant | 1(0/1/0) |
| rs10823973 | Chr10:53779480(Fwd) | intron_variant | 1(0/0/1) |
| rs7901487 | Chr10:53789388(Fwd) | intron_variant | 1(0/1/0) |
| rs7893146 | Chr10:53772799(Fwd) | intron_variant | 1(0/1/0) |
| rs7092969 | Chr10:53707749(Fwd) | intron_variant | 1(0/0/1) |
LD-proxies (count: 55)
| rs_ID | Location | Functional Annotation |
|---|---|---|
| rs10740404 | Chr10:53714787(Fwd) | intron_variant |
| rs7906084 | Chr10:53767679(Fwd) | intron_variant |
| rs10762514 | Chr10:53714687(Fwd) | intron_variant |
| rs12572645 | Chr10:53776058(Fwd) | intron_variant |
| rs10762521 | Chr10:53769514(Fwd) | intron_variant |
| rs10740403 | Chr10:53714654(Fwd) | intron_variant |
| rs1903989 | Chr10:53770239(Fwd) | intron_variant |
| rs10740402 | Chr10:53714391(Fwd) | intron_variant |
| rs10762513 | Chr10:53711005(Fwd) | intron_variant |
| rs1961742 | Chr10:53770626(Fwd) | intron_variant |
| rs12780573 | Chr10:53779846(Fwd) | intron_variant |
| rs7921124 | Chr10:53781725(Fwd) | intron_variant |
| rs4935295 | Chr10:53716463(Fwd) | intron_variant |
| rs12243919 | Chr10:53787149(Fwd) | intron_variant |
| rs2879634 | Chr10:53715070(Fwd) | intron_variant |
| rs2454559 | Chr10:53739654(Fwd) | intron_variant |
| rs2454554 | Chr10:53746968(Fwd) | intron_variant |
| rs10740406 | Chr10:53747846(Fwd) | intron_variant |
| rs2252101 | Chr10:53758887(Fwd) | intron_variant |
| rs1015620 | Chr10:53759431(Fwd) | intron_variant |
| rs2454543 | Chr10:53760409(Fwd) | intron_variant |
| rs2454541 | Chr10:53761208(Fwd) | intron_variant |
| rs1903981 | Chr10:53761364(Fwd) | intron_variant |
| rs2454539 | Chr10:53762921(Fwd) | intron_variant |
| rs11522442 | Chr10:53778714(Fwd) | intron_variant |
| rs10823952 | Chr10:53771139(Fwd) | intron_variant |
| rs2447639 | Chr10:53766143(Fwd) | intron_variant |
| rs10762541 | Chr10:53790461(Fwd) | intron_variant |
| rs10762522 | Chr10:53771852(Fwd) | intron_variant |
| rs2454566 | Chr10:53733545(Fwd) | intron_variant |
| rs2454567 | Chr10:53733476(Fwd) | intron_variant |
| rs10733889 | Chr10:53712508(Fwd) | intron_variant |
| rs2454552 | Chr10:53748522(Fwd) | intron_variant |
| rs11000264 | Chr10:53712759(Fwd) | intron_variant |
| rs2454570 | Chr10:53731500(Fwd) | intron_variant |
| rs10740409 | Chr10:53778213(Fwd) | intron_variant |
| rs10733891 | Chr10:53790034(Fwd) | intron_variant |
| rs16925715 | Chr10:53772842(Fwd) | intron_variant |
| rs2339898 | Chr10:53709352(Fwd) | intron_variant |
| rs1904036 | Chr10:53734733(Fwd) | intron_variant |
| rs2246585 | Chr10:53763998(Fwd) | intron_variant |
| rs10466028 | Chr10:53713462(Fwd) | intron_variant |
| rs2447649 | Chr10:53736231(Fwd) | intron_variant |
| rs10823959 | Chr10:53776070(Fwd) | intron_variant |
| rs7073794 | Chr10:53713519(Fwd) | intron_variant |
| rs2454562 | Chr10:53737212(Fwd) | intron_variant |
| rs10823955 | Chr10:53773545(Fwd) | intron_variant |
| rs7074329 | Chr10:53713175(Fwd) | intron_variant |
| rs1904048 | Chr10:53749547(Fwd) | intron_variant |
| rs1903975 | Chr10:53776579(Fwd) | intron_variant |
| rs7095482 | Chr10:53713209(Fwd) | intron_variant |
| rs7908149 | Chr10:53772875(Fwd) | intron_variant |
| rs1903976 | Chr10:53776532(Fwd) | intron_variant |
| rs10762512 | Chr10:53710979(Fwd) | intron_variant |
| rs2454535 | Chr10:53764919(Fwd) | intron_variant |
Gene related CNVs (count: 1)
| ID | Location | Size | Band | Type | Inheritance |
|---|---|---|---|---|---|
| CNV_Jarick[2012]_22 | chr10:52492354-53412126 (NCBI36 / hg18) | 919773 | 10q11.23-10q21.1 | del |
Gene related other variant (count: 0)
Gene related regions (count: 0)
Gene related GO terms (count: 18)
GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)
GO terms by database search (count: 18)
Gene related KEGG pathways (count: 5)
| ID | Name | No. of Genes in ADHDgene | Brief Description |
|---|---|---|---|
| hsa04730 | Long-term depression | 27 | Cerebellar long-term depression (LTD), thought to be a molec...... Cerebellar long-term depression (LTD), thought to be a molecular and cellular basis for cerebellar learning, is a process involving a decrease in the synaptic strength between parallel fiber (PF) and Purkinje cells (PCs) induced by the conjunctive activation of PFs and climbing fiber (CF). Multiple signal transduction pathways have been shown to be involved in this process. Activation of PFs terminating on spines in dendritic branchlets leads to glutamate release and activation of both AMPA and mGluRs. Activation of CFs, which make multiple synaptic contacts on proximal dendrites, also via AMPA receptors, opens voltage-gated calcium channels (VGCCs) and causes a generalized influx of calcium. These cellular signals, generated from two different synaptic origins, trigger a cascade of events culminating in a phosphorylation-dependent, long-term reduction in AMPA receptor sensitivity at the PF-PC synapse. This may take place either through receptor internalization and/or through receptor desensitization. More... |
| hsa04270 | Vascular smooth muscle contraction | 33 | The vascular smooth muscle cell (VSMC) is a highly specializ...... The vascular smooth muscle cell (VSMC) is a highly specialized cell whose principal function is contraction. On contraction, VSMCs shorten, thereby decreasing the diameter of a blood vessel to regulate the blood flow and pressure. More... |
| hsa04740 | Olfactory transduction | 173 | Within the compact cilia of the olfactory receptor neurons (...... Within the compact cilia of the olfactory receptor neurons (ORNs) a cascade of enzymatic activity transduces the binding of an odorant molecule to a receptor into an electrical signal that can be transmitted to the brain. Odorant molecules bind to a receptor protein (R) coupled to an olfactory specific Gs-protein (G) and activate a type III adenylyl cyclase (AC), increasing intracellular cAMP levels. cAMP targets an olfactory-specific cyclic-nucleotide gated ion channel (CNG), allowing cations, particularly Na and Ca, to flow down their electrochemical gradients into the cell, depolarizing the ORN. Furthermore, the Ca entering the cell is able to activate a Ca-activated Cl channel, which would allow Cl to flow out of the cell, thus further increasing the depolarization. Elevated intracellular Ca causes adaptation by at least two different molecular steps: inhibition of the activity of adenylyl cyclase via CAMKII-dependent phosphorylation and down-regulation of the affinity of the CNG channel to cAMP.Longer exposure to odorants can stimulate particulate guanylyl cyclase in cilia to produce cGMP and activate PKG, leading to a further increase in amount and duration of intracellular cAMP levels, which may serve to convert inactive forms of protein kinase A (PKA2) to active forms (PKA*). As part of a feedback loop, PKA can inhibit the activation of particulate guanylyl cyclase. More... |
| hsa04540 | Gap junction | 27 | Gap junctions contain intercellular channels that allow dire...... Gap junctions contain intercellular channels that allow direct communication between the cytosolic compartments of adjacent cells. Each gap junction channel is formed by docking of two 'hemichannels', each containing six connexins, contributed by each neighboring cell. These channels permit the direct transfer of small molecules including ions, amino acids, nucleotides, second messengers and other metabolites between adjacent cells. Gap junctional communication is essential for many physiological events, including embryonic development, electrical coupling, metabolic transport, apoptosis, and tissue homeostasis. Communication through Gap Junction is sensitive to a variety of stimuli, including changes in the level of intracellular Ca2+, pH, transjunctional applied voltage and phosphorylation/dephosphorylation processes. This figure represents the possible activation routes of different protein kinases involved in Cx43 and Cx36 phosphorylation. More... |
| hsa04970 | Salivary secretion | 22 | Saliva has manifold functions in maintaining the integrity o...... Saliva has manifold functions in maintaining the integrity of the oral tissues, in protecting teeth from caries, in the tasting and ingestion of food, in speech and in the tolerance of tenures, for example. Salivary secretion occurs in response to stimulation by neurotransmitters released from autonomic nerve endings. There are two secretory pathways: protein exocytosis and fluid secretion. Sympathetic stimulation leads to the activation of adenylate cyclase and accumulation of intracellular cAMP. The elevation of cAMP causes the secretion of proteins such as amylase and mucin. In contrast, parasympathetic stimulation activates phospholipase C and causes the elevation of intracellular Ca2+, which leads to fluid secretion; that is, water and ion transport. Ca2+ also induces amylase secretion, but the amount is smaller than that induced by cAMP. More... |
Genes shared at least 5 GO terms with PRKG1 (count: 45)
Genes shared at least 2 KEGG pathways with PRKG1 (count: 25)
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Region: chr10:52750945..54058110 View in gBrowse
Copyright: Bioinformatics Lab, Institute of Psychology, Chinese Academy of Sciences Feedback
Last update: Feb 26, 2014