PLEKHG5

PLEKHG5
Identifiers
Aliases	PLEKHG5, CMTRIC, DSMA4, GEF720, Syx, Tech, pleckstrin homology and RhoGEF domain containing G5
External IDs	OMIM: 611101; MGI: 2652860; HomoloGene: 10768; GeneCards: PLEKHG5; OMA:PLEKHG5 - orthologs
Gene location (Human)
Chr.	Chromosome 1 (human)
End	6,520,074 bp
Gene location (Mouse)
Chr.	Chromosome 4 (mouse)
End	152,199,857 bp
RNA expression pattern
	Top expressed in
	sural nerve; ; skin of abdomen; ; anterior pituitary; ; spleen; ; ganglionic eminence; ; Brodmann area 9; ; right uterine tube; ; prefrontal cortex; ; gallbladder; ; left ventricle;
	Top expressed in
	visual cortex; ; superior frontal gyrus; ; motor neuron; ; hippocampus proper; ; lip; ; yolk sac; ; prefrontal cortex; ; internal carotid artery; ; upper arm; ; morula;
	More reference expression data
	n/a
Gene ontology
Molecular function	signal transducer 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 apoptotic process; endothelial cell migration; regulation of small GTPase mediated signal transduction; positive regulation of I-kappaB kinase/NF-kappaB signaling; G protein-coupled receptor signaling pathway; regulation of molecular function;
	Sources:Amigo / QuickGO
Orthologs
	57449
	269608
	ENSG00000171680
	ENSMUSG00000039713
	O94827
	Q66T02
NM_198681; NM_001042663; NM_001042664; NM_001042665; NM_001265592;
	NM_001265593; NM_001265594; NM_020631
	NM_001004156; NM_001285999; NM_001374783
NP_001036128; NP_001036129; NP_001036130; NP_001252521; NP_001252522;
	NP_001252523; NP_065682; NP_941374
	NP_001272928; NP_001361712
	Wikidata
View/Edit Human	View/Edit Mouse

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

Clinical significance

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

References

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000171680 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000039713 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b "Entrez Gene: Pleckstrin homology domain containing, family G (with RhoGef domain) member 5".

This article on a gene on human chromosome 1 is a stub. You can help Wikipedia by expanding it.

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

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000171680 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000039713 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-5] "Entrez Gene: Pleckstrin homology domain containing, family G (with RhoGef domain) member 5".

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