PLEKHG2 Gene Summary [Human]
The protein encoded by this gene is a RhoGTPase that can activate CDC42 by promoting exchange of GDP for GTP on CDC42. The encoded protein is activated by binding to the beta and gamma subunits of heterotrimeric guanine nucleotide-binding protein. Defects in this gene have been associated with leukodystrophy and acquired microcephaly with or without dystonia. [provided by RefSeq, May 2017]
Details
| Type | Protein Coding |
| Official Symbol | PLEKHG2 |
| Official Name | pleckstrin homology and RhoGEF domain containing G2 [Source:HGNC Symbol;Acc:HGNC:29515] |
| Ensembl ID | ENSG00000090924 |
| Bio databases IDs | |
| Aliases | pleckstrin homology and RhoGEF domain containing G2 |
| Synonyms | ARHGEF42, CLG, Cslg, CTB-60E11.4, FLJ00018, LDAMD, pleckstrin homology and RhoGEF domain containing G2, pleckstrin homology domain containing, family G (with RhoGef domain) member 2, RGD1310112 |
| 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 PLEKHG2 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
- protein binding
- Pleckstrin homology-like domain
- Dbl homology domain
- RhoGEF domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- leukodystrophy and acquired microcephaly
- leukodystrophy and acquired microcephaly without dystonia
role in cell
- cell viability
- cell spreading
- polymerization
- transformation
- morphology
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
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human PLEKHG2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- regulation of actin filament polymerization
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
- small GTPase binding