Property Summary

NCBI Gene PubMed Count 31
PubMed Score 33.47
PubTator Score 27.59

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (1)

Disease log2 FC p
lung cancer -1.200 1.9e-02

 OMIM Phenotype (1)

Gene RIF (8)

PMID Text
23563607 Single nucleotide polymorphisms in GNAT2 gene is associated with obesity.
23362848 The majority (n = 12) of patients were either homozygotes or compound heterozygotes for known achromatopsia alleles, two in CNGB3 (p.T383fsX and p.T296YfsX9) and three in CNGA3 (p.R283Q, p.R427C and p.L527R).
21267001 Missense mutations, nonsense mutations, splice mutations, and small deletions and insertions in the affected genes cause achromatopsia.
21107338 Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
20603337 Expression of GNAT2 transgene, when found in rod photoreceptor cells rather than in cones, demonstrates different mechanisms of amplification in the body's G-protein alpha cascades and the activation of phosphodiesterase 6.
19592100 Observational study of gene-disease association. (HuGE Navigator)
15094710 We detected a deletion of a highly conserved lysine at codon 270 in a critical functional area of the alpha-cone transducin molecule, and therefore is not the disease causing mutation.
12077706 mutations in GNAT2 are implicated in achromatopsia

AA Sequence

MGSGASAEDKELAKRSKELEKKLQEDADKEAKTVKLLLLGAGESGKSTIVKQMKIIHQDGYSPEECLEFK      1 - 70
AIIYGNVLQSILAIIRAMTTLGIDYAEPSCADDGRQLNNLADSIEEGTMPPELVEVIRRLWKDGGVQACF     71 - 140
ERAAEYQLNDSASYYLNQLERITDPEYLPSEQDVLRSRVKTTGIIETKFSVKDLNFRMFDVGGQRSERKK    141 - 210
WIHCFEGVTCIIFCAALSAYDMVLVEDDEVNRMHESLHLFNSICNHKFFAATSIVLFLNKKDLFEEKIKK    211 - 280
VHLSICFPEYDGNNSYDDAGNYIKSQFLDLNMRKDVKEIYSHMTCATDTQNVKFVFDAVTDIIIKENLKD    281 - 350
CGLF                                                                      351 - 354
//

Text Mined References (31)

PMID Year Title
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23362848 2013 Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America.
21267001 2011 Clinical utility gene card for: achromatopsia.
21107338 2011 Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.
20603337 2010 Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decay.
20125088 2011 Genome-wide association study of recurrent early-onset major depressive disorder.
19592100 2009 Genetic etiology and clinical consequences of complete and incomplete achromatopsia.
18240029 2008 Reviews in molecular biology and biotechnology: transmembrane signaling by G protein-coupled receptors.
16892066 2006 Mechanism of the receptor-catalyzed activation of heterotrimeric G proteins.
15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.
15557429 2004 Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15094710 2004 A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12205108 2002 Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).
12077706 2002 Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
11118617 2000 Cloning and characterization of the human phosphoinositide-specific phospholipase C-beta 1 (PLC beta 1).
9008644 1997 Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2).
8521505 1995 The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma 2.
8406495 1993 Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2).
8208289 1994 Structural determinants for activation of the alpha-subunit of a heterotrimeric G protein.
8112713 1993 [Analysis of cell specific transcription of the human cone transducin alpha subunit gene].
3118369 1987 Myristoylated alpha subunits of guanine nucleotide-binding regulatory proteins.
2902634 1988 Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human.
2534964 1989 Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina.
1936270 1991 Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit.
1905716 1991 Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit forms.
1713215 1991 Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitope.
1655754 1991 cGMP suppresses GTPase activity of a portion of transducin equimolar to phosphodiesterase in frog rod outer segments. Light-induced cGMP decreases as a putative feedback mechanism of the photoresponse.
1322796 1992 Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulator.
1302014 1992 Evolution of the mammalian G protein alpha subunit multigene family.