TBC1D24 (TBC1 domain family member 24)

2016-10-01  

Identity

HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
DEE16,DFNA65,DFNB86,DOORS,EIEE16,EPRPDC,FIME,TLDC6
FUSION GENES

Other Information

Locus ID:

NCBI: 57465
MIM: 613577
HGNC: 29203
Ensembl: ENSG00000162065

Variants:

dbSNP: 57465
ClinVar: 57465
TCGA: ENSG00000162065
COSMIC: TBC1D24

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000162065ENST00000562105H3BV07
ENSG00000162065ENST00000564879H3BTP5
ENSG00000162065ENST00000567020Q9ULP9
ENSG00000162065ENST00000569874Q9ULP9
ENSG00000162065ENST00000627285Q9ULP9
ENSG00000162065ENST00000630263A0A0D9SFR5
ENSG00000162065ENST00000643767A0A2R8Y518
ENSG00000162065ENST00000646147Q9ULP9

Expression (GTEx)

0
5
10
15
20
25
30

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
207275152010TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.49
207976912010A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.47
242912202014The genetic basis of DOORS syndrome: an exome-sequencing study.37
247295392014TBC1D24 mutation causes autosomal-dominant nonsyndromic hearing loss.34
243879942014Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86.28
235265542013Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.25
233435622013TBC1D24 truncating mutation resulting in severe neurodegeneration.24
272815332016TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.20
247295472014A dominant mutation in the stereocilia-expressing gene TBC1D24 is a probable cause for nonsyndromic hearing impairment.15
235175702013TBC1D24 mutation associated with focal epilepsy, cognitive impairment and a distinctive cerebro-cerebellar malformation.11

Citation

Dessen P

TBC1D24 (TBC1 domain family member 24)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/55985/tbc1d24