Selected-GenAtlas references	SOURCE	GeneCards	NCBI Gene	Swiss-Prot	Orphanet	Ensembl
	HGNC	UniGene	Nucleotide	OMIM		UCSC

Home Page

FLASH GENE

Symbol

TBC1D24

contributors: mct/pgu - updated : 10-09-2019

HGNC name	TBC1 domain family, member 24
HGNC id	29203

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

EXPRESSION

Type

widely

expressed in

(based on citations)

organ(s)

System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Cardiovascular heart       highly Homo sapiens Digestive liver       highly Homo sapiens   stomach         Homo sapiens Hearing/Equilibrium ear inner cochlea   moderately Mus musculus Nervous brain limbic system hippocampus   moderately   brain forebrain cerebral cortex   predominantly Homo sapiens Urinary kidney       highly Homo sapiens

cells

System Cell Pubmed Species Stage Rna symbol Hearing / Equilibrium cochlea cell Mus musculus Nervous neuron Homo sapiens

cell lineage

cell lines

fluid/secretion

at STAGE

PROTEIN

PHYSICAL PROPERTIES

STRUCTURE

motifs/domains	a Tre2/Bub2/Cdc16 (TBC) domain, nvolved in the interaction with ARF6
	a TLDc domain with no reported putative function

HOMOLOGY

Homologene

FAMILY

CATEGORY

unknown/unspecified

SUBCELLULAR LOCALIZATION	plasma membrane,junction
	intracellular
	intracellular,cytoplasm

basic FUNCTION	may be having a critical role in developmentally regulated events essential for the morphological and functional maturation of neuronal circuitry
	potent modulator of primary axonal arborization and specification in neuronal cell
	additional function of TBC1D24 might be to help safeguard spiral ganglion neurons against oxidative stress
	is a critical player in EFNB2 control of CNC cell migration via CIL
	is also crucial for normal presynaptic function
	essential role for TBC1D24 at the mammalian synapse
	multifunctional protein involved in neuronal development, regulation of synaptic vesicle trafficking, and protection from oxidative stress
	important role for TBC1D24 in connectivity during brain development

CELLULAR PROCESS

PHYSIOLOGICAL PROCESS

PATHWAY

metabolism

signaling

a component

INTERACTION

DNA

RNA

small molecule

protein	involvement of the TBC domain in the interaction with ARF6
	putative RAB35-GTPase activating protein (RAB35 GAP), that complexes with EFNB2 via the scaffold Dishevelled (Dsh) and mediates a signal affecting contact inhibition of locomotion (CIL) in cranial neural crest (CNC) cells

cell & other

REGULATION

ASSOCIATED DISORDERS

corresponding disease(s)

IMEI , EIEE16 , DFNB86 , DOORS , DFNA65

Susceptibility

Variant & Polymorphism

Candidate gene

Marker

Therapy target

ANIMAL & CELL MODELS