GNA11
Summary: The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| G protein subunit alpha 11 | MIM:139313 | Ensembl:ENSG00000088256 | HGNC:HGNC:4379 | PA28764 | 19p13.3 |
Gene Categories:
CLINICALLY ACTIONABLEGO terms in GNA11
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IBA | GO:0001664 | G-protein coupled receptor binding |
| MF | IBA | GO:0003924 | GTPase activity |
| MF | IEA | GO:0005525 | GTP binding |
| MF | IBA | GO:0031683 | G-protein beta/gamma-subunit complex binding |
| MF | IBA | GO:0031826 | type 2A serotonin receptor binding |
| MF | IEA | GO:0046872 | metal ion binding |
| BP | IEA | GO:0001501 | skeletal system development |
| BP | IBA | GO:0001508 | action potential |
| BP | TAS | GO:0007165 | signal transduction |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IBA | GO:0007188 | adenylate cyclase-modulating G-protein coupled receptor signaling pathway |
| BP | ISS | GO:0007213 | G-protein coupled acetylcholine receptor signaling pathway |
| BP | IEA | GO:0007507 | heart development |
| BP | ISS | GO:0007603 | phototransduction, visible light |
| BP | ISS | GO:0009649 | entrainment of circadian clock |
| BP | TAS | GO:0030168 | platelet activation |
| BP | IEA | GO:0045634 | regulation of melanocyte differentiation |
| BP | IEA | GO:0048066 | developmental pigmentation |
| BP | IBA | GO:0060158 | phospholipase C-activating dopamine receptor signaling pathway |
| BP | IEA | GO:0071467 | cellular response to pH |
| CC | ISS | GO:0001750 | photoreceptor outer segment |
| CC | TAS | GO:0005737 | cytoplasm |
| CC | HDA | GO:0005765 | lysosomal membrane |
| CC | IBA | GO:0005834 | heterotrimeric G-protein complex |
| CC | TAS | GO:0005886 | plasma membrane |
| CC | HDA | GO:0070062 | extracellular exosome |
Gene expression in normal tissue: GNA11
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in GNA11
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| wikipathways | WP2355 | Corticotropin-releasing hormone signaling pathway |
| wikipathways | WP35 | G Protein Signaling Pathways |
| wikipathways | WP3958 | GPR40 Pathway |
| wikipathways | WP536 | Calcium Regulation in the Cardiac Cell |
| pharmgkb | PA154444041 | Platelet Aggregation Inhibitor Pathway, Pharmacodynamics |
| pid | arf6_pathway | Arf6 signaling events |
| pid | endothelinpathway | Endothelins |
| pid | er_nongenomic_pathway | Plasma membrane estrogen receptor signaling |
| pid | lysophospholipid_pathway | LPA receptor mediated events |
| pid | s1p_meta_pathway | Sphingosine 1-phosphate (S1P) pathway |
| pid | s1p_s1p2_pathway | S1P2 pathway |
| pid | s1p_s1p3_pathway | S1P3 pathway |
| pid | thrombin_par1_pathway | PAR1-mediated thrombin signaling events |
| pid | thrombin_par4_pathway | PAR4-mediated thrombin signaling events |
| pid | txa2pathway | Thromboxane A2 receptor signaling |
| netpath | Pathway_CRH | CRH |
| netpath | Pathway_TSH | TSH |
| kegg | hsa04020 | Calcium signaling pathway - Homo sapiens (human) |
| kegg | hsa04022 | cGMP-PKG signaling pathway - Homo sapiens (human) |
| kegg | hsa04270 | Vascular smooth muscle contraction - Homo sapiens (human) |
| kegg | hsa04540 | Gap junction - Homo sapiens (human) |
| kegg | hsa04725 | Cholinergic synapse - Homo sapiens (human) |
| kegg | hsa04730 | Long-term depression - Homo sapiens (human) |
| kegg | hsa04911 | Insulin secretion - Homo sapiens (human) |
| kegg | hsa04912 | GnRH signaling pathway - Homo sapiens (human) |
| kegg | hsa04925 | Aldosterone synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04927 | Cortisol synthesis and secretion - Homo sapiens (human) |
| kegg | hsa04934 | Cushing,s syndrome - Homo sapiens (human) |
| kegg | hsa05142 | Chagas disease (American trypanosomiasis) - Homo sapiens (human) |
| kegg | hsa05146 | Amoebiasis - Homo sapiens (human) |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
| biocarta | biopeptidespathway | bioactive peptide induced signaling pathway |
| biocarta | cardiacegfpathway | role of egf receptor transactivation by gpcrs in cardiac hypertrophy |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-109582 | Hemostasis |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-1430728 | Metabolism |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-163685 | Integration of energy metabolism |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-392518 | Signal amplification |
| reactome | R-HSA-392518 | Signal amplification |
| reactome | R-HSA-399997 | Acetylcholine regulates insulin secretion |
| reactome | R-HSA-399997 | Acetylcholine regulates insulin secretion |
| reactome | R-HSA-400451 | Free fatty acids regulate insulin secretion |
| reactome | R-HSA-400451 | Free fatty acids regulate insulin secretion |
| reactome | R-HSA-416476 | G alpha (q) signalling events |
| reactome | R-HSA-416476 | G alpha (q) signalling events |
| reactome | R-HSA-418592 | ADP signalling through P2Y purinoceptor 1 |
| reactome | R-HSA-418592 | ADP signalling through P2Y purinoceptor 1 |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-422356 | Regulation of insulin secretion |
| reactome | R-HSA-428930 | Thromboxane signalling through TP receptor |
| reactome | R-HSA-434316 | Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion |
| reactome | R-HSA-434316 | Fatty Acids bound to GPR40 (FFAR1) regulate insulin secretion |
| reactome | R-HSA-456926 | Thrombin signalling through proteinase activated receptors (PARs) |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
| reactome | R-HSA-76002 | Platelet activation, signaling and aggregation |
Gene-Drug: Aster Plot
| Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD983 | PI3K pathway inhibitor | 8 |
| iGMDRD470 | Trametinib | 1 |
| iGMDRD333 | MEK Inhibitor | 8 |
| iGMDRD42 | Vorinostat | 4 |
| iGMDRD399 | Selumetinib | 5 |
| iGMDRD662 | JQ-1 | 1 |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in GNA11
CLASSFICATION
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