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GNAQ

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]
Protein class

Cancer-related genes, Disease related genes, Human disease related genes

Predicted location

Intracellular

Single cell type specificity

Cell type enhanced (Astrocytes, Oligodendrocytes, Excitatory neurons, Microglial cells, Oligodendrocyte precursor cells)

Immune cell specificity

Immune cell enhanced (basophil)

Cell line specificity

Low cell line specificity

Interaction

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. Interacts with GAS2L2 (PubMed:23994616).

Molecular function

Transducer

More Types Infomation

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For Research Use Only. Not For Clinical Use.

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