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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].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
TBC1 domain family member 24	MIM:613577	Ensembl:ENSG00000162065	HGNC:HGNC:29203	PA144596267	16p13.3

GO terms in TBC1D24

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
CC	ISS	GO:0043195	terminal bouton
BP	IMP	GO:0031175	neuron projection development
BP	IEA	GO:0043547	positive regulation of GTPase activity
BP	IMP	GO:1902017	regulation of cilium assembly

Gene expression in normal tissue: TBC1D24

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in TBC1D24

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

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD353	PD0325901	1

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in TBC1D24

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