PLEKHG5

Pleckstrin homology domain containing, family G (with RhoGef domain) member 5
Identifiers
Symbols	PLEKHG5 ; CMTRIC; DSMA4; GEF720; Syx; Tech
External IDs	OMIM: 611101 HomoloGene: 10768 GeneCards: PLEKHG5 Gene
Gene ontology Molecular function • signal transducer activity • Rho guanyl-nucleotide exchange factor activity Cellular component • cytoplasm • cytosol • plasma membrane • cell-cell junction • lamellipodium • endocytic vesicle • perinuclear region of cytoplasm Biological process • small GTPase mediated signal transduction • regulation of Rho protein signal transduction • endothelial cell chemotaxis • positive regulation of apoptotic process • positive regulation of I-kappaB kinase/NF-kappaB signaling • positive regulation of GTPase activity • neurotrophin TRK receptor signaling pathway • regulation of small GTPase mediated signal transduction • apoptotic signaling pathway Sources: Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57449	269608
Ensembl	ENSG00000171680	ENSMUSG00000039713
UniProt	O94827	Q66T02
RefSeq (mRNA)	NM_001042663	NM_001004156
RefSeq (protein)	NP_001036128	NP_001272928
Location (UCSC)	Chr 1: 6.47 – 6.52 Mb	Chr 4: 152.07 – 152.12 Mb
PubMed search

Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a protein that in humans is encoded by the PLEKHG5 gene.^[1] Multiple transcript variants encoding different isoforms have been found for this gene.

Function

This gene encodes a protein that activates the nuclear factor kappa B (NFKB1) signaling pathway.^[1]

Clinical significance

Mutations in the PLEKHG5 gene are associated with distal spinal muscular atrophy type 4.

References

1. "Entrez Gene: Pleckstrin homology domain containing, family G (with RhoGef domain) member 5".

This article incorporates text from the United States National Library of Medicine, which is in the public domain.