GNAQ gene

G protein subunit alpha q

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This locus encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010]

From UniProt:

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).

From NCBI Gene:

  • Sturge-Weber syndrome
  • Capillary malformations, congenital

From UniProt:

Sturge-Weber syndrome (SWS): 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. [MIM:185300]

Capillary malformations, congenital (CMC): 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. [MIM:163000]

Cytogenetic Location: 9q21.2, which is the long (q) arm of chromosome 9 at position 21.2

Molecular Location: base pairs 77,716,274 to 78,031,449 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q21.2, which is the long (q) arm of chromosome 9 at position 21.2
  • CMC1
  • G-ALPHA-q
  • GAQ
  • SWS