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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
TBC1 domain family member 24MIM:613577Ensembl:ENSG00000162065HGNC:HGNC:29203PA14459626716p13.3

GO terms in TBC1D24


Term TypeEvidence TypeGO Term IDGO Des.
MFIEAGO:0005096GTPase activator activity
MFIPIGO:0005515protein binding
CCIDAGO:0005737cytoplasm
CCIDAGO:0005886plasma membrane
CCIDAGO:0030054cell junction
CCISSGO:0031594neuromuscular junction
CCISSGO:0043195terminal bouton
BPIMPGO:0031175neuron projection development
BPIEAGO:0043547positive regulation of GTPase activity
BPIMPGO:1902017regulation of cilium assembly

Gene expression in normal tissue: TBC1D24

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TBC1D24


DatabasePathway IDPathway Des.
reactomeR-HSA-199991Membrane Trafficking
reactomeR-HSA-5653656Vesicle-mediated transport
reactomeR-HSA-8854214TBC/RABGAPs
reactomeR-HSA-9007101Rab regulation of trafficking

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD353PD03259011

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TBC1D24

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