GNA11
GNA11 Gene Summary
The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations. [provided by RefSeq, Dec 2013]
Details
| Type | Protein Coding |
| Official Symbol | GNA11 |
| Official Name | G protein subunit alpha 11 [Source:HGNC Symbol;Acc:HGNC:4379] |
| Ensembl ID | ENSG00000088256 |
| Bio databases IDs | |
| Aliases | G protein subunit alpha 11 |
| Synonyms | Dsk7,E430025L19,FBH,FBH2,FHH2,GA11,g alpha-11,Galpha11/q,G protein alpha q-11,G protein subunit alpha 11,G protein subunit α 11,G protein α 11,G protein α q-11,guanine nucleotide binding protein, alpha 11,guanine nucleotide binding protein, α 11,Gy alpha,Gy α,G α 11,HG1K,HHC2,HYPOC2 |
| Species | Human, Homo sapiens |
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 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
- small monomeric GTPase
- alkylglycerophosphoethanolamine phosphodiesterase
- GTPase
- enzyme
- enzyme regulator activity
- protein binding
- phosphorylation site
- GTP binding
- binding protein
- guanyl nucleotide binding
- G-protein alpha subunit
- P-loop containing Nucleoside Triphosphate Hydrolases
Pathways
Biological processes and signaling networks where the GNA11 gene plays a role, providing insight into its function and relevance in health or disease.
- AMPK Signaling
- Apelin Adipocyte Signaling Pathway
- Apelin Cardiomyocyte Signaling Pathway
- Apelin Endothelial Signaling Pathway
- Apelin Muscle Signaling Pathway
- Cardiac β-adrenergic Signaling
- CCR3 Signaling in Eosinophils
- CCR5 Signaling in Macrophages
- CXCR4 Signaling
- Endothelin-1 Signaling
- Ephrin B Signaling
- Ephrin Receptor Signaling
- fMLP Signaling in Neutrophils
- G Beta Gamma Signaling
- G Protein Signaling Mediated by Tubby
- GABA Receptor Signaling
- Gαi Signaling
- Gαq Signaling
- IL-1 Signaling
- IL-8 Signaling
- Molecular Mechanisms of Cancer
- PPARα/RXRα Activation
- RhoGDI Signaling
- Role of Tissue Factor in Cancer
- Synaptic Long Term Potentiation
- Thrombin Signaling
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
binds
- PIK3CG
- RXRA
- GNAS
- EGFR
- TSPAN15
- FYTTD1
- RPA4
- KIF20A
- RAC1
- LGALS9
disease
- neoplasia
- cancer
- epithelial cancer
- benign neoplasia
- familial hypocalciuric hypercalcemia type 2
- seizures
- hypoplasia
- renal neoplasm
- renal neoplasia
- colon cancer
regulated by
- tetradecanoylphorbol acetate
- EGF
- Sauvagine
- beta-estradiol
- AGT
- 6-hydroxydopamine
- Agtr1a
- HTR2C
- OXTR
- GALR2
regulates
- Ca2+
- AKT
- SLC2A4
- PLD
- EGFR
- PRKCD
- ERK
- MAPK1
- MAPK8
- MAPK3
role in cell
- expression in
- formation
- apoptosis
- activation in
- proliferation
- migration
- accumulation in
- formation in
- chemotaxis
- binding in
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
- membrane fraction
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- Cytoplasm
- presynaptic regions
- cellular membrane
- cell cortex
- photoreceptor outer segments
- plasma
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the GNA11 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- signal transduction
- G-protein coupled acetylcholine receptor signaling pathway
- adenylate cyclase-modulating G-protein coupled receptor signaling pathway
- phospholipase C-activating dopamine receptor signaling pathway
- regulation of blood pressure
- regulation of melanocyte differentiation
- developmental pigmentation
- heart development
- phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway
- phototransduction, visible light
- entrainment of circadian clock
- skeletal system development
- regulation of action potential
- cellular response to pH
- positive regulation of insulin secretion
CELLULAR COMPONENT
Where in the cell the gene product is active
- extracellular vesicular exosome
- heterotrimeric G-protein complex
- cytoplasm
- synapse
- lysosomal membrane
- plasma membrane
- photoreceptor outer segment
MOLECULAR FUNCTION
What the gene product does at the molecular level
- GTP binding
- G-protein coupled receptor binding
- protein binding
- metal ion binding
- GTPase activity
- small monomeric GTPase activity
- G-protein beta/gamma-subunit complex binding
- enzyme regulator activity