GNAT2 Gene Summary [Human]
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]
Details
| Type | Protein Coding |
| Official Symbol | GNAT2 |
| Official Name | G protein subunit alpha transducin 2 [Source:HGNC Symbol;Acc:HGNC:4394] |
| Ensembl ID | ENSG00000134183 |
| Bio databases IDs | |
| Aliases | G protein subunit alpha transducin 2 |
| Synonyms | ACHM4, Cone t alpha, Cone t α, GNATC, G protein subunit alpha transducin 2, G protein subunit α transducin 2, Gt-2, Gt alpha2, G α T2, HG1D, Tcalpha |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human GNAT2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- G protein alpha subunit
- GTPase
- G-protein alpha subunit
- enzyme
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the GNAT2 gene in human plays a role, providing insight into its function and relevance in health or disease.
- Apelin Endothelial Signaling Pathway
- Apelin Muscle Signaling Pathway
- Cardiac β-adrenergic Signaling
- CCR3 Signaling in Eosinophils
- CXCR4 Signaling
- Ephrin B Signaling
- Ephrin Receptor Signaling
- fMLP Signaling in Neutrophils
- G Beta Gamma Signaling
- G Protein Signaling Mediated by Tubby
- G-Protein Coupled Receptor Signaling
- GABA Receptor Signaling
- Gαi Signaling
- Gαq Signaling
- IL-1 Signaling
- IL-8 Signaling
- Phototransduction Pathway
- Relaxin Signaling
- RhoGDI Signaling
- Sperm Motility
- TEC Kinase Signaling
- Thrombin Signaling
- α-Adrenergic Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- systemic lupus erythematosus
- cancer
- achromatopsia
- achromatopsia type 4
- metabolic syndrome X
- spinocerebellar ataxia type 7
- obesity
- retinal dystrophy
- Huntington disease
- cone dystrophy
role in cell
- development
- differentiation
- elevation in
- morphogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Plasma Membrane
- Cytoplasm
- cellular membrane
- synapse
- photoreceptor outer segments
- photoreceptor inner segments
- rod outer segments
- cone outer segments
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human GNAT2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- retinal rod cell differentiation
- dopamine metabolic process
- detection of light stimulus involved in visual perception
- G-protein coupled receptor signaling pathway
- L-glutamate import
- cell morphogenesis
- protein localization
- homeostasis of number of retina cells
- adenylate cyclase-modulating G-protein coupled receptor signaling pathway
- detection of chemical stimulus involved in sensory perception of bitter taste
- response to UV
- response to organic cyclic compound
- retinal cone cell development
- visual perception
- phototransduction
- visual behavior
- elevation of cytosolic calcium ion concentration
- tissue remodeling
- gene expression
Cellular Component
Where in the cell the gene product is active
- heterotrimeric G-protein complex
- cytoplasm
- synapse
- photoreceptor inner segment
- plasma membrane
- photoreceptor outer segment membrane
- photoreceptor outer segment
Molecular Function
What the gene product does at the molecular level
- GTP binding
- G-protein coupled receptor binding
- metal ion binding
- GTPase activity
- G-protein coupled photoreceptor activity
- G-protein beta/gamma-subunit complex binding