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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

Corresponding disease	DFNA65 deafness, autosomal dominant 65 DFNB86 deafness, autosomal recessive 86 DOORS deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome EIEE16 epileptic encephalopathy, early infantile, 16 IMEI idiopathic myoclonic epilepsy of infancy
Location	16p13.3      Physical location : 2.525.146 - 2.553.486
Synonym name	KIAA1171
Synonym symbol(s)	KIAA1171, MGC102885, DFNA65, DFNB86, DOORS, EIEE16, EPRPDC, FIME, TLDC6

DNA

TYPE	functioning gene
STRUCTURE	34.57 kb     8 Exon(s)

MAPPING

cloned

Y

linked

N

status

provisional

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_020705 8 - 4344 NP_065756 62.3 553 - 2019 30335140 NM_001199107 8 - 6611 NP_001186036 - 559 - 2019 30335140

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