Identity
HGNC
LOCATION
6q22.31
LOCUSID
ALIAS
BROMI,C6orf170,C6orf171
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: 221322
MIM: 615867
HGNC: 21485
Ensembl: ENSG00000146350
Variants:
dbSNP: 221322
ClinVar: 221322
TCGA: ENSG00000146350
COSMIC: TBC1D32
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164712563 | Bisphosphonates | Chemical | ClinicalAnnotation | associated | PD | ||
| PA445187 | Osteonecrosis | Disease | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37768732 | 2023 | TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. | 2 |
| 37768732 | 2023 | TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa. | 2 |
| 35609210 | 2022 | BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1. | 9 |
| 35609210 | 2022 | BROMI/TBC1D32 together with CCRK/CDK20 and FAM149B1/JBTS36 contributes to intraflagellar transport turnaround involving ICK/CILK1. | 9 |
| 32060556 | 2020 | Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. | 9 |
| 32573025 | 2020 | Confirming TBC1D32-related ciliopathy in humans. | 6 |
| 32060556 | 2020 | Loss-of-Function Variants in TBC1D32 Underlie Syndromic Hypopituitarism. | 9 |
| 32573025 | 2020 | Confirming TBC1D32-related ciliopathy in humans. | 6 |
| 24285566 | 2014 | Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. | 54 |
| 24285566 | 2014 | Ciliary genes TBC1D32/C6orf170 and SCLT1 are mutated in patients with OFD type IX. | 54 |
| 20159594 | 2010 | Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. | 62 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20159594 | 2010 | Broad-minded links cell cycle-related kinase to cilia assembly and hedgehog signal transduction. | 62 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
TBC1D32 (TBC1 domain family member 32)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74530/tbc1d32-(tbc1-domain-family-member-32)
