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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:611101 Ensembl IDEnsembl:ENSG00000171680 HGNC IDHGNC:HGNC:29105 PHARMGKB IDPA142671164 Map Location1p36.31 | |||||
GO terms in PLEKHG5
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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 |
Gene expression in normal tissue: PLEKHG5
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in PLEKHG5
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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 |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD68 | Paclitaxel | 1 |
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Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in PLEKHG5
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
CLASSFICATION
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