PLEKHG5

PLEKHG5
Identifiers
Aliases	PLEKHG5, CMTRIC, DSMA4, GEF720, Syx, Tech, pleckstrin homology and RhoGEF domain containing G5
External IDs	MGI: 2652860 HomoloGene: 10768 GeneCards: PLEKHG5
Gene ontology Molecular function • signal transducer activity • Rho guanyl-nucleotide exchange factor activity • guanyl-nucleotide exchange factor activity Cellular component • endocytic vesicle • cytoplasm • cell projection • cytosol • cell junction • lamellipodium • cell-cell junction • membrane • perinuclear region of cytoplasm • plasma membrane Biological process • endothelial cell chemotaxis • regulation of Rho protein signal transduction • positive regulation of GTPase activity • positive regulation of apoptotic process • endothelial cell migration • regulation of small GTPase mediated signal transduction • positive regulation of I-kappaB kinase/NF-kappaB signaling • signal transduction Sources:Amigo / QuickGO
Orthologs
Species	Human	Mouse
Entrez	57449	269608
Ensembl	ENSG00000171680	ENSMUSG00000039713
UniProt	O94827	Q66T02
RefSeq (mRNA)	NM_198681 NM_001042663 NM_001042664 NM_001042665 NM_001265592 NM_001265593 NM_001265594 NM_020631	NM_001004156 NM_001285999
RefSeq (protein)	NP_001036128.1 NP_001036129.1 NP_001036130.1 NP_001252521.1 NP_001252522.1 NP_001252523.1 NP_065682.2 NP_941374.2	NP_001272928.1
Location (UCSC)	Chr 1: 6.47 – 6.52 Mb	Chr 4: 152.07 – 152.12 Mb
PubMed search	[1]	[2]
Wikidata

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Pleckstrin homology domain containing, family G member 5 (PLEKHG5) is a protein that in humans is encoded by the PLEKHG5 gene.^[3] 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.^[3]

Clinical significance

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

References

1. "Human PubMed Reference:".
2. "Mouse PubMed Reference:".
3. "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.