Property Summary

NCBI Gene PubMed Count 31
Grant Count 2
Funding $33,785.34
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 0.019

Synonym

Accession P19087
Symbols ACHM4
GNATC

Gene

 Grant Application (2)

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.
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