ARHGEF3
ARHGEF3 Gene Summary
Rho-like GTPases are involved in a variety of cellular processes, and they are activated by binding GTP and inactivated by conversion of GTP to GDP by their intrinsic GTPase activity. Guanine nucleotide exchange factors (GEFs) accelerate the GTPase activity of Rho GTPases by catalyzing their release of bound GDP. This gene encodes a guanine nucleotide exchange factor, which specifically activates two members of the Rho GTPase family: RHOA and RHOB, both of which have a role in bone cell biology. It has been identified that genetic variation in this gene plays a role in the determination of bone mineral density (BMD), indicating the implication of this gene in postmenopausal osteoporosis. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | ARHGEF3 |
| Official Name | Rho guanine nucleotide exchange factor 3 [Source:HGNC Symbol;Acc:HGNC:683] |
| Ensembl ID | ENSG00000163947 |
| Bio databases IDs | |
| Aliases | Rho guanine nucleotide exchange factor 3, exchange factor found in platelets and leukemic and neuronal tissues, XPLN, RhoGEF protein |
| Synonyms | 1200004I24Rik,9830169H03RIK,GEF3,RHO GEF,Rho guanine nucleotide exchange factor 3,STA3,XPLN |
| 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.
- RhoGEF
- guanyl-nucleotide exchange factor
- PH domain
- protein binding
- Pleckstrin homology-like domain
- Dbl homology domain
- RhoGEF domain
Pathways
Biological processes and signaling networks where the ARHGEF3 gene 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.
binds
- SHMT2
- RHOA
- TRIM27
- RHOB
- CEP70
- PRKN
- APEX1
- NR3C1
- XPO1
- MAPKAP1
disease
- mature T-cell neoplasia
- T-cell non-Hodgkin disease
- Duchenne muscular dystrophy
- coronary artery disease
- idiopathic dilated cardiomyopathy
- glaucoma
- open-angle glaucoma
- neoplasia
- prostate cancer
- hemorrhagic disease
regulated by
- PD98059
- lipopolysaccharide
- AKAP13
- NFE2L2
- H-7
- CITED2
- IL6
- VDR
- CASR
- THZ531
regulates
- RELA
- RHOB
- AKT
- ACLY
- RHOA
- mir-21 (includes others)
- TF
role in cell
- expression in
- proliferation
- apoptosis
- phosphorylation in
- differentiation
- transformation
- assembly
- binding in
- degradation 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
- cytosol
- cytoplasmic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the ARHGEF3 gene, providing context for its role in the cell.
BIOLOGICAL PROCESS
Functions and activities the gene product is involved in
- positive regulation of Rho protein signal transduction
- regulation of small GTPase mediated signal transduction
- Rho protein signal transduction
CELLULAR COMPONENT
Where in the cell the gene product is active
- cytosol
MOLECULAR FUNCTION
What the gene product does at the molecular level
- protein binding
- guanyl-nucleotide exchange factor activity