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GNAQ (G protein subunit alpha q)

Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
2776
Gene nameGene Name - the full gene name approved by the HGNC.
G protein subunit alpha q
Gene symbolGene Symbol - the official gene symbol approved by the HGNC, which is a short abbreviated form of the gene name.
GNAQ
SynonymsGene synonyms aliases
CMAL, CMC1, G-ALPHA-q, GAQ, SWS
ChromosomeChromosome number
9
Chromosome locationChromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
9q21.2
SummarySummary of gene provided in NCBI Entrez 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
SNPsSNP information provided by dbSNP.
SNP ID Visualize variation Clinical significance Consequence
rs121913492 T>A,C,G Likely-pathogenic, pathogenic Coding sequence variant, missense variant
rs397514698 C>T Pathogenic Missense variant, coding sequence variant
rs1057519853 TG>AA Likely-pathogenic Coding sequence variant, missense variant
miRNAmiRNA information provided by mirtarbase database.
miRTarBase ID miRNA Experiments Reference
MIRT021640 hsa-miR-142-3p Microarray 17612493
MIRT021961 hsa-miR-128-3p Microarray 17612493
MIRT030765 hsa-miR-21-5p Microarray 18591254
MIRT612954 hsa-miR-4668-3p HITS-CLIP 23824327
MIRT612953 hsa-miR-500a-5p HITS-CLIP 23824327
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0001508 Process Action potential IBA 21873635
GO:0001664 Function G protein-coupled receptor binding IBA 21873635
GO:0001750 Component Photoreceptor outer segment ISS
GO:0003924 Function GTPase activity IBA 21873635
GO:0005096 Function GTPase activator activity IBA 21873635
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM
HGNC
e!Ensembl
Protein
UniProt ID P50148
Protein name Guanine nucleotide-binding protein G(q) subunit alpha (EC 3.6.5.-) (Guanine nucleotide-binding protein alpha-q)
Protein function Guanine nucleotide-binding proteins (G proteins) function as transducers downstream of G protein-coupled receptors (GPCRs) in numerous signaling cascades (PubMed:37991948). The alpha chain contains the guanine nucleotide binding site and alterna
PDB 6VU5 , 7EZM , 7F6G , 7F6H , 7F6I , 7F8W , 7W3Z , 7W40 , 7XOW , 8G59 , 8IA7 , 8IYS , 8J9N , 8JPB , 8JPC , 8JPE , 8SZG , 8UQN , 8UQO , 8XGO , 8XGS , 8Y52 , 8ZJD , 8ZJE , 9K27
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00503 G-alpha
19 348
G-protein alpha subunit
Domain
Sequence
Sequence length 359
Interactions View interactions

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