ARHGEF12 Gene Summary [Human]
Rho GTPases play a fundamental role in numerous cellular processes that are initiated by extracellular stimuli working through G protein-coupled receptors. The encoded protein may form a complex with G proteins and stimulate Rho-dependent signals. This protein has been observed to form a myeloid/lymphoid fusion partner in acute myeloid leukemia. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
Details
| Type | Protein Coding |
| Official Symbol | ARHGEF12 |
| Official Name | Rho guanine nucleotide exchange factor 12 [Source:HGNC Symbol;Acc:HGNC:14193] |
| Ensembl ID | ENSG00000196914 |
| Bio databases IDs | |
| Aliases | Rho guanine nucleotide exchange factor 12 |
| Synonyms | 2310014B11RIK, AU019857, LARG, LARG RhoGEF, mKIAA0382, PRO2792, Rho guanine nucleotide exchange factor 12 |
| 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 ARHGEF12 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- Domain present in PSD-95, Dlg, and ZO-1/2
- Regulator of G protein signalling-like domain
- G-protein-coupled receptor binding
- nuclear localization sequence
- canonical PDZ domain
- Regulator of G protein signaling (RGS) domain superfamily
- protein binding
- Pleckstrin homology-like domain
- PDZ domain
- RhoGEF domain
- RhoGEF
- guanyl-nucleotide exchange factor
- PH domain
- cpPDZ_Deg_HtrA-like
- PDZ binding motif
- Dbl homology domain
- cpPDZ_RseP_YlbL-like
Pathways
Biological processes and signaling networks where the ARHGEF12 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- angina pectoris
- Klinefelter syndrome
- lung adenocarcinoma
- lung adenocarcinoma formation
- open-angle glaucoma
- pancreatic ductal adenocarcinoma
- pancreatic epithelial cancer
- ductal pancreatic cancer
- organismal death
- coronary artery disease
role in cell
- migration
- proliferation
- activation in
- formation
- endothelial barrier function
- abnormal morphology
- transactivation in
- disorganization
- protrusion/retraction in
- disorganization 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.
- Cytoplasm
- cellular membrane
- Plasma Membrane
- cytosol
- cellular protrusions
- perikaryon
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human ARHGEF12 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- G-protein coupled receptor signaling pathway
- regulation of small GTPase mediated signal transduction
- Rho protein signal transduction
Cellular Component
Where in the cell the gene product is active
- extracellular vesicular exosome
- cytoplasm
- membrane
- cytosol
Molecular Function
What the gene product does at the molecular level
- G-protein coupled receptor binding
- protein binding
- GTPase activator activity
- guanyl-nucleotide exchange factor activity