Gene: GNAT2 (guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2)
Homo sapiens
Symbol:
GNAT2
Name:
guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
Description:
Transducin is a 3-subunit guanine nucleotide-binding protein (G protein) which stimulates the coupling of rhodopsin and cGMP-phoshodiesterase during visual impulses. The transducin alpha subunits in rods and cones are encoded by separate genes. This gene encodes the alpha subunit in cones. [provided by RefSeq, Jul 2008]
Type:
protein-coding
RefSeq Status:
REVIEWED
Also known as:
ACHM4; cone-type transducin alpha subunit; GNATC; guanine nucleotide-binding protein G(t) subunit alpha-2; guanine nucleotide-binding protein G(t), alpha-2 subunit; OTTHUMP00000013354; transducin alpha-2 chain; transducin, cone-specific, alpha polypeptide
Orthologs:
Mus musculus : Gnat2
(guanine nucleotide binding protein, alpha transducing 2)
MGI
Gnat2
(guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2)
Latest Assembly:
Human Genome Assembly GRCh37
Position:
Map Chr Position Strand Source Human Alternate Assembly CHM1_1 1 110,218,538 - 110,228,354 - NCBI Human Genome Assembly HuRef 1 108,038,398 - 108,048,214 - NCBI Human Genome Assembly GRCh37 1 110,145,889 - 110,155,705 - NCBI Human Genome Assembly Build 36 1 109,947,412 - 109,957,228 - NCBI Human Cytogenetic Map 1 p13.1 NCBI Human Genome Assembly 1 109,857,755 - 109,867,747 NCBI
Model
Disease Annotations
Gene-Chemical Interaction Annotations
2,3,7,8-tetrachlorodibenzodioxine affects expression ISO 6480464 Tetrachlorodibenzodioxin affects the expression of GNAT2 mRNA CTD PMID:22298810 2,3,7,8-tetrachlorodibenzodioxine affects expression ISO RGD:1309514 6480464 Tetrachlorodibenzodioxin affects the expression of GNAT2 mRNA CTD PMID:22298810 aflatoxin B1 decreases expression ISO 6480464 Aflatoxin B1 results in decreased expression of GNAT2 mRNA CTD PMID:19770486 aflatoxin B1 decreases expression ISO RGD:1319894 6480464 Aflatoxin B1 results in decreased expression of GNAT2 mRNA CTD PMID:19770486 carbonyl sulfide increases expression ISO 6480464 carbonyl sulfide results in increased expression of GNAT2 mRNA CTD PMID:19395590 carbonyl sulfide increases expression ISO RGD:1309514 6480464 carbonyl sulfide results in increased expression of GNAT2 mRNA CTD PMID:19395590 clofibrate multiple interactions ISO RGD:1319894 6480464 [Clofibrate co-treated with Acetaminophen] affects the expression of GNAT2 mRNA; more ... CTD PMID:17585979 clofibrate multiple interactions ISO 6480464 [Clofibrate co-treated with Acetaminophen] affects the expression of GNAT2 mRNA; more ... CTD PMID:17585979 cyclosporin A increases expression ISO RGD:1319894 6480464 Cyclosporine results in increased expression of GNAT2 mRNA CTD PMID:19770486 cyclosporin A increases expression ISO 6480464 Cyclosporine results in increased expression of GNAT2 mRNA CTD PMID:19770486 paracetamol multiple interactions ISO RGD:1319894 6480464 [Clofibrate co-treated with Acetaminophen] affects the expression of GNAT2 mRNA; more ... CTD PMID:17585979 paracetamol multiple interactions ISO 6480464 [Clofibrate co-treated with Acetaminophen] affects the expression of GNAT2 mRNA; more ... CTD PMID:17585979 propiconazole increases expression ISO 6480464 propiconazole results in increased expression of GNAT2 mRNA CTD PMID:21278054 propiconazole increases expression ISO RGD:1319894 6480464 propiconazole results in increased expression of GNAT2 mRNA CTD PMID:21278054 valproic acid affects expression ISO 6480464 Valproic Acid affects the expression of GNAT2 mRNA CTD PMID:17292431 valproic acid affects expression ISO RGD:1319894 6480464 Valproic Acid affects the expression of GNAT2 mRNA CTD PMID:17292431 vigabatrin increases response to substance ISO 6480464 GNAT2 results in increased susceptibility to Vigabatrin CTD PMID:22970106 vigabatrin increases response to substance ISO RGD:1319894 6480464 GNAT2 results in increased susceptibility to Vigabatrin CTD PMID:22970106
Biological Process adenylate cyclase-modulating G-protein coupled receptor signaling pathway IBA PANTHER:PTN000026392 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 detection of chemical stimulus involved in sensory perception of bitter taste IBA PANTHER:PTN000026521 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 detection of light stimulus involved in visual perception IMP 2290271 PMID:12077706 UniProtKB PMID:12077706 elevation of cytosolic calcium ion concentration IEA Ensembl:ENSRNOP00000026237 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 G-protein coupled receptor signaling pathway NAS 2290271 PMID:2534964 UniProtKB PMID:2534964 phototransduction NAS 2290271 PMID:2534964 UniProtKB PMID:2534964 response to light intensity IEA Ensembl:ENSRNOP00000026237 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 retinal cone cell development IEA Ensembl:ENSMUSP00000053818 2290271 GO_REF:0000019 ENSEMBL GO_REF:0000019 visual perception NAS 2290271 PMID:2534964 UniProtKB PMID:2534964 Cellular Component extrinsic to internal side of plasma membrane IBA PANTHER:PTN000026392 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 heterotrimeric G-protein complex NAS 2290271 PMID:1936270 UniProtKB PMID:1936270 heterotrimeric G-protein complex IBA PANTHER:PTN000026392 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 heterotrimeric G-protein complex NAS 2290271 PMID:2534964 UniProtKB PMID:2534964 photoreceptor inner segment IDA 2290271 PMID:2534964 UniProtKB PMID:2534964 photoreceptor outer segment ISS UniProtKB:P04696 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 photoreceptor outer segment IDA 2290271 PMID:2534964 UniProtKB PMID:2534964 photoreceptor outer segment membrane ISS UniProtKB:P04696 2290271 GO_REF:0000024 UniProtKB GO_REF:0000024 plasma membrane TAS 2290271 Reactome:REACT_15298 Reactome Reactome:REACT_15298 plasma membrane TAS 2290271 Reactome:REACT_18400 Reactome Reactome:REACT_18400 plasma membrane TAS 2290271 Reactome:REACT_15549 Reactome Reactome:REACT_15549 plasma membrane TAS 2290271 Reactome:REACT_15491 Reactome Reactome:REACT_15491 plasma membrane TAS 2290271 Reactome:REACT_15387 Reactome Reactome:REACT_15387 plasma membrane TAS 2290271 Reactome:REACT_15353 Reactome Reactome:REACT_15353 plasma membrane TAS 2290271 Reactome:REACT_15336 Reactome Reactome:REACT_15336 plasma membrane TAS 2290271 Reactome:REACT_15316 Reactome Reactome:REACT_15316 plasma membrane TAS 2290271 Reactome:REACT_15301 Reactome Reactome:REACT_15301 Molecular Function G-protein beta/gamma-subunit complex binding IBA PANTHER:PTN000026392 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 G-protein coupled photoreceptor activity NAS 2290271 PMID:2534964 UniProtKB PMID:2534964 G-protein coupled receptor binding IBA PANTHER:PTN000026392 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 GTP binding NAS 2290271 PMID:1936270 UniProtKB PMID:1936270 GTPase activity IBA PANTHER:PTN000026392 2290271 GO_REF:0000033 RefGenome GO_REF:0000033 metal ion binding IEA UniProtKB-KW:KW-0479 2290271 GO_REF:0000037 UniProtKB GO_REF:0000037 signal transducer activity IBA PANTHER:PTN000026392 2290271 GO_REF:0000033 RefGenome GO_REF:0000033
1581540 BP60_H Blood pressure QTL 60 (human) Blood pressure hypertension susceptibility 1 19957148 198620398 Human 1331645 COPD18_H Chronic obstructive pulmonary disease QTL 18 (human) 1.92 Chronic airflow obstruction FEV1/FVC ratio 1 74229391 157932881 Human 2316706 GLUCO264_H Glucose level QTL 264 (human) 1.48 .00782 Glucose level 1 88685438 114685438 Human 1357381 BW57_H Body weight QTL 57 (human) 1 .0001 Body weight fat free mass after exercise training 1 91558770 166956374 Human 1331632 COPD7_H Chronic obstructive pulmonary disease QTL 7 (human) 2.24 Chronic airflow obstruction post-bronchodilator FEV1 1 93281574 119281574 Human 1559099 SCL44_H Serum cholesterol level QTL 44 (human) 2.1 .45 Lipid level LDL cholesterol 12 101462515 127462515 Human 2293398 PRSTS246_H Prostate tumor susceptibility QTL 246 (human) Prostate tumor susceptibility 1 103693958 129693958 Human 2293418 PRSTS248_H Prostate tumor susceptibility QTL 248 (human) Prostate tumor susceptibility 1 103693958 129693958 Human 2293438 PRSTS247_H Prostate tumor susceptibility QTL 247 (human) Prostate tumor susceptibility 1 103693958 129693958 Human 1300021 BP45_H Blood pressure QTL 45 (human) 1.77 .00218 Blood pressure systolic 1 103931595 129931595 Human 2293363 PRSTS197_H Prostate tumor susceptibility QTL 197 (human) 2.25 Prostate tumor susceptibility 1 104556825 130556825 Human 2289451 BW299_H Body weight QTL 299 (human) 2.24 Body weight body mass index 1 106678365 132678365 Human 2301799 PRSTS429_H Prostate tumor susceptibility QTL 429 (human) 1.45 .01 Prostate tumor susceptibility 1 107268831 133268831 Human
Gene-Chemical Interaction Annotations
