Identity
HGNC
LOCATION
16p13.3
LOCUSID
ALIAS
DEE16,DFNA65,DFNB86,DOORS,EIEE16,EPRPDC,FIME,TLDC6
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57465
MIM: 613577
HGNC: 29203
Ensembl: ENSG00000162065
Variants:
dbSNP: 57465
ClinVar: 57465
TCGA: ENSG00000162065
COSMIC: TBC1D24
RNA/Proteins
Expression (GTEx)
Pathways
| Pathway | Source | External ID |
|---|---|---|
| Vesicle-mediated transport | REACTOME | R-HSA-5653656 |
| Membrane Trafficking | REACTOME | R-HSA-199991 |
| TBC/RABGAPs | REACTOME | R-HSA-8854214 |
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38413761 | 2024 | Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss. | 0 |
| 38413761 | 2024 | Investigation of a novel TBC1D24 variation causing autosomal dominant non-syndromic hearing loss. | 0 |
| 35413638 | 2022 | TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up. | 3 |
| 35413638 | 2022 | TBC1D24-related familial infantile multifocal myoclonus: Description of a new Chinese pedigree with a 20 year follow up. | 3 |
| 33063868 | 2021 | Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases. | 1 |
| 33986365 | 2021 | TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss. | 4 |
| 33063868 | 2021 | Novel variants in TBC1D24 associated with epilepsy and deafness: Report of two cases. | 1 |
| 33986365 | 2021 | TBC1D24 emerges as an important contributor to progressive postlingual dominant hearing loss. | 4 |
| 32475639 | 2020 | TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes. | 3 |
| 32663648 | 2020 | Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy. | 3 |
| 32987832 | 2020 | Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. | 8 |
| 32475639 | 2020 | TBC1D24 regulates recycling of clathrin-independent cargo proteins mediated by tubular recycling endosomes. | 3 |
| 32663648 | 2020 | Disrupted oxidative stress resistance: A homozygous mutation in the catalytic (TLDc) domain of TBC1D24 gene associated with epileptic encephalopathy. | 3 |
| 32987832 | 2020 | Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving Deafness. | 8 |
| 30245510 | 2019 | A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. | 9 |
Citation
Dessen P
TBC1D24 (TBC1 domain family member 24)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/55985/
