Homo sapiens Protein: GNAT2
Summary
InnateDB Protein IDBP-100854.4
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol GNAT2
Protein Name guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
Synonyms ACHM4; GNATC;
Species Homo sapiens
Ensembl Protein ENSP00000251337
InnateDB Gene IDBG-100852 (GNAT2)
Protein Structure
UniProt Annotation
Function Guanine nucleotide-binding proteins (G proteins) are involved as modulators or transducers in various transmembrane signaling systems. Transducin is an amplifier and one of the transducers of a visual impulse that performs the coupling between rhodopsin and cGMP-phosphodiesterase.
Subcellular Localization
Disease Associations Achromatopsia 4 (ACHM4) [MIM:613856]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Note=The disease is caused by mutations affecting the gene represented in this entry.
Tissue Specificity Retinal rod outer segment.
Comments
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 6 experimentally validated interaction(s) in this database.
Experimentally validated
Total 6 [view]
Protein-Protein 6 [view]
Protein-DNA 0
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0001664 G-protein coupled receptor binding
GO:0003924 GTPase activity
GO:0004871 signal transducer activity
GO:0005525 GTP binding
GO:0008020 G-protein coupled photoreceptor activity
GO:0019001 guanyl nucleotide binding
GO:0031683 G-protein beta/gamma-subunit complex binding
GO:0046872 metal ion binding
Biological Process
GO:0001580 detection of chemical stimulus involved in sensory perception of bitter taste
GO:0006184 GTP catabolic process
GO:0007165 signal transduction
GO:0007186 G-protein coupled receptor signaling pathway
GO:0007188 adenylate cyclase-modulating G-protein coupled receptor signaling pathway
GO:0007204 positive regulation of cytosolic calcium ion concentration
GO:0007601 visual perception
GO:0007602 phototransduction
GO:0009642 response to light intensity
GO:0046549 retinal cone cell development
GO:0050908 detection of light stimulus involved in visual perception
Cellular Component
GO:0001750 photoreceptor outer segment
GO:0001917 photoreceptor inner segment
GO:0005834 heterotrimeric G-protein complex
GO:0005886 plasma membrane
GO:0042622 photoreceptor outer segment membrane
Protein Structure and Domains
PDB ID
InterPro IPR001019 Guanine nucleotide binding protein (G-protein), alpha subunit
IPR001408 G-protein alpha subunit, group I
IPR006689 Small GTPase superfamily, ARF/SAR type
IPR011025 G protein alpha subunit, helical insertion
IPR027417 P-loop containing nucleoside triphosphate hydrolase
PFAM PF00503
PF00025
PRINTS PR00318
PR00441
PR00328
PIRSF
SMART SM00275
TIGRFAMs
Post-translational Modifications
Modification
Cross-References
SwissProt P19087
PhosphoSite PhosphoSite-P19087
TrEMBL Q5T697
UniProt Splice Variant
Entrez Gene 2780
UniGene Hs.36973
RefSeq NP_005263
HUGO HGNC:4394
OMIM 139340
CCDS CCDS803
HPRD 00762
IMGT
EMBL AF493909 BC000233 BT009844 CH471122 D10384 S70567 Z18859
GenPept AAD14063 AAH00233 AAM12623 AAP88846 BAA01211 CAA79310 EAW56394 EAW56395