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MGP001241

UniProt Annotations

Entry Information

Gene Name	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)
Protein Entry	GNA11_HUMAN
UniProt ID	P29992
Species	Human

Comments

Comment type	Description
Disease	Hypocalcemia, autosomal dominant 2 (HYPOC2) [MIM:615361]: A form of hypocalcemia, a disorder of mineral homeostasis characterized by blood calcium levels below normal, and low or normal serum parathyroid hormone concentrations. Disease manifestations include hypocalcemia, paresthesias, carpopedal spasm, seizures, hypercalciuria with nephrocalcinosis or kidney stones, and ectopic and basal ganglia calcifications. {ECO:0000269\|PubMed:23782177, ECO:0000269\|PubMed:23802516}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Disease	Hypocalciuric hypercalcemia, familial 2 (HHC2) [MIM:145981]: A form of hypocalciuric hypercalcemia, a disorder of mineral homeostasis that is transmitted as an autosomal dominant trait with a high degree of penetrance. It is characterized biochemically by lifelong elevation of serum calcium concentrations and is associated with inappropriately low urinary calcium excretion and a normal or mildly elevated circulating parathyroid hormone level. Hypermagnesemia is typically present. Affected individuals are usually asymptomatic and the disorder is considered benign. However, chondrocalcinosis and pancreatitis occur in some adults. {ECO:0000269\|PubMed:23802516}. 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. Acts as an activator of phospholipase C.
Similarity	Belongs to the G-alpha family. G(q) subfamily. {ECO:0000305}.
Subcellular Location	Cell membrane {ECO:0000305\|PubMed:18703424}; Lipid-anchor {ECO:0000305\|PubMed:18703424}. Cytoplasm {ECO:0000269\|PubMed:18703424}. Note=In testicular cells, expressed exclusively in the cytoplasm.
Subunit	G proteins are composed of 3 units; alpha, beta and gamma. The alpha chain contains the guanine nucleotide binding site. Interacts with RGS22. Interacts with NTSR1. {ECO:0000269\|PubMed:18703424, ECO:0000269\|PubMed:21725197}.
Tissue Specificity	Expressed in testis. {ECO:0000269\|PubMed:18703424}.
Web Resource	Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/GNA11ID43272ch19p13.html";