PLEKHG5
Summary: 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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| pleckstrin homology and RhoGEF domain containing G5 | MIM:611101 | Ensembl:ENSG00000171680 | HGNC:HGNC:29105 | PA142671164 | 1p36.31 |
GO terms in PLEKHG5
| Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | TAS | GO:0005085 | guanyl-nucleotide exchange factor activity |
| MF | TAS | GO:0005089 | Rho guanyl-nucleotide exchange factor activity |
| CC | ISS | GO:0005737 | cytoplasm |
| CC | TAS | GO:0005829 | cytosol |
| CC | IEA | GO:0005886 | plasma membrane |
| CC | ISS | GO:0005911 | cell-cell junction |
| CC | ISS | GO:0030027 | lamellipodium |
| CC | ISS | GO:0030139 | endocytic vesicle |
| CC | IEA | GO:0048471 | perinuclear region of cytoplasm |
| BP | TAS | GO:0007186 | G-protein coupled receptor signaling pathway |
| BP | IEA | GO:0035023 | regulation of Rho protein signal transduction |
| BP | ISS | GO:0035767 | endothelial cell chemotaxis |
| BP | TAS | GO:0043065 | positive regulation of apoptotic process |
| BP | HMP | GO:0043123 | positive regulation of I-kappaB kinase/NF-kappaB signaling |
| BP | TAS | GO:0051056 | regulation of small GTPase mediated signal transduction |
Gene expression in normal tissue: PLEKHG5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PLEKHG5
| Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-162582 | Signal Transduction |
| reactome | R-HSA-193648 | NRAGE signals death through JNK |
| reactome | R-HSA-193704 | p75 NTR receptor-mediated signalling |
| reactome | R-HSA-194315 | Signaling by Rho GTPases |
| reactome | R-HSA-194840 | Rho GTPase cycle |
| reactome | R-HSA-204998 | Cell death signalling via NRAGE, NRIF and NADE |
| reactome | R-HSA-372790 | Signaling by GPCR |
| reactome | R-HSA-388396 | GPCR downstream signalling |
| reactome | R-HSA-416482 | G alpha (12/13) signalling events |
| reactome | R-HSA-73887 | Death Receptor Signalling |
| kegg | hsa05200 | Pathways in cancer - Homo sapiens (human) |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PLEKHG5
CLASSFICATION
Copyright © 2018 Modellab | All Rights Reserved
Disclaimer: iGMDR is intended for research purposes only. Its information cannot be used for emergencies or medical or professional advice.