TBC1D24
Summary: This gene encodes a protein with a conserved domain, referred to as the TBC domain, characteristic of proteins which interact with GTPases. TBC domain proteins may serve as GTPase-activating proteins for a particular group of GTPases, the Rab (Ras-related proteins in brain) small GTPases which are involved in the regulation of membrane trafficking. Mutations in this gene are associated with familial infantile myoclonic epilepsy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2011].
Loading, please wait...
Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
OMIM IDMIM:613577 Ensembl IDEnsembl:ENSG00000162065 HGNC IDHGNC:HGNC:29203 PHARMGKB IDPA144596267 Map Location16p13.3 | |||||
GO terms in TBC1D24
Loading, please wait...
Term Type | Evidence Type | GO Term ID | GO Des. |
|---|---|---|---|
| MF | IEA | GO:0005096 | GTPase activator activity |
| MF | IPI | GO:0005515 | protein binding |
| CC | IDA | GO:0005737 | cytoplasm |
| CC | IDA | GO:0005886 | plasma membrane |
| CC | IDA | GO:0030054 | cell junction |
| CC | ISS | GO:0031594 | neuromuscular junction |
Gene expression in normal tissue: TBC1D24
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in TBC1D24
Loading, please wait...
Database | Pathway ID | Pathway Des. |
|---|---|---|
| reactome | R-HSA-199991 | Membrane Trafficking |
| reactome | R-HSA-5653656 | Vesicle-mediated transport |
| reactome | R-HSA-8854214 | TBC/RABGAPs |
| reactome | R-HSA-9007101 | Rab regulation of trafficking |
Showing 1 to 4 of 4 rows
Gene-Drug: Aster Plot
Loading, please wait...
Drug ID | Drug Name | Model Num. |
|---|---|---|
| iGMDRD353 | PD0325901 | 1 |
Showing 1 to 1 of 1 rows
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in TBC1D24
Loading, please wait...
Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
|---|---|---|---|---|---|---|---|---|
| No matching records found | ||||||||
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.