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MGP001249

UniProt Annotations

Entry Information

Gene Name	guanine nucleotide binding protein (G protein), q polypeptide
Protein Entry	GNAQ_HUMAN
UniProt ID	P50148
Species	Human

Comments

Comment type	Description
Disease	Capillary malformations, congenital (CMC) [MIM:163000]: A form of vascular malformations that are present from birth, tend to grow with the individual, do not regress spontaneously, and show normal rates of endothelial cell turnover. Capillary malformations are distinct from capillary hemangiomas, which are highly proliferative lesions that appear shortly after birth and show rapid growth, slow involution, and endothelial hypercellularity. {ECO:0000269\|PubMed:23656586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Sturge-Weber syndrome (SWS) [MIM:185300]: A syndrome characterized by an intracranial vascular anomaly, leptomeningeal angiomatosis, most often involving the occipital and posterior parietal lobes. The most common features are facial cutaneous vascular malformations (port-wine stains), seizures, and glaucoma. Stasis results in ischemia underlying the leptomeningeal angiomatosis, leading to calcification and laminar cortical necrosis. The clinical course is highly variable and some children experience intractable seizures, mental retardation, and recurrent stroke-like episodes. {ECO:0000269\|PubMed:23656586}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Function	Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Regulates B-cell selection and survival and is required to prevent B-cell-dependent autoimmunity. Regulates chemotaxis of BM-derived neutrophils and dendritic cells (in vitro) (By similarity). {ECO:0000250}.
Interaction	P49407:ARRB1; NbExp=2; IntAct=EBI-3909604, EBI-743313; P10276:RARA; NbExp=4; IntAct=EBI-3909604, EBI-413374;
Similarity	Belongs to the G-alpha family. G(q) subfamily. {ECO:0000305}.
Subcellular Location	Nucleus {ECO:0000250}. Membrane {ECO:0000250}. Nucleus membrane {ECO:0000250}. Note=Colocalizes with the adrenergic receptors, ADREN1A and ADREN1B, at the nuclear membrane of cardiac myocytes. {ECO:0000250}.
Subunit	G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Binds SLC9A3R1. Forms a complex with PECAM1 and BDKRB2. Interacts with PECAM1. {ECO:0000269\|PubMed:12193606, ECO:0000269\|PubMed:18672896}.
Tissue Specificity	Predominantly expressed in ovary, prostate, testis and colon. Down-regulated in the peripheral blood lymphocytes (PBLs) of rheumatoid arthritis patients (at protein level). {ECO:0000269\|PubMed:21923740, ECO:0000269\|PubMed:8664309}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GNAQID43280ch9q21.html";