Gene: GNAQ ENSG00000156052

Description

guanine nucleotide binding protein (G protein), q polypeptide [Source:HGNC Symbol;Acc:4390]

Gene Synonyms

CMC1, G-ALPHA-q, GAQ, SWS

Location

GRCh37:CM000671.1

About this gene

This gene has 3 transcripts (splice variants), 13 paralogues and is associated with 78 phenotypes.

Transcripts

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000286548.4	GNAQ-001	6539	359aa	ENSP00000286548.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS6658	G3V1P7 P50148	NM_002072.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000397476.3	GNAQ-201	1273	157aa	ENSP00000443197.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V1P7	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000411677.1	GNAQ-002	551	170aa	ENSP00000391501.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		B1AM21	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,

Summary