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.
|
|
Gene ontology (GO)Gene ontology information of associated ontologies with gene provided by GO database.
|
|
Other IDsOther ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
|
|
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 |