Aliases for PLEKHG5 Gene
- Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 5 2 3
- Synectin-Binding Guanine Exchange Factor 2 3
- Guanine Nucleotide Exchange Factor 720 3 4
- PH Domain-Containing Family G Member 5 3 4
- GEF720 3 4
- Pleckstrin Homology Domain Containing Family G Member 5 3
- Novel PH Domain-Containing Protein 3
External Ids for PLEKHG5 Gene
Previous GeneCards Identifiers for PLEKHG5 Gene
This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway. Mutations in this gene are associated with autosomal recessive distal spinal muscular atrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]
GeneCards Summary for PLEKHG5 Gene
PLEKHG5 (Pleckstrin Homology Domain Containing, Family G (With RhoGef Domain) Member 5) is a Protein Coding gene. Diseases associated with PLEKHG5 include autosomal recessive lower motor neuron disease with childhood onset and spinal muscular atrophy, distal, autosomal recessive, 4. Among its related pathways are Signaling by GPCR and Pathways in cancer. GO annotations related to this gene include signal transducer activity and Rho guanyl-nucleotide exchange factor activity. An important paralog of this gene is PLEKHG6.
UniProtKB/Swiss-Prot for PLEKHG5 Gene
Guanine nucleotide exchange factor that activates RHOA and maybe the NF-kappa-B signaling pathway. Involved in the control of neuronal cell differentiation. Plays a role in angiogenesis through regulation of endothelial cells chemotaxis.