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: 23102
HGNC: 29183
Ensembl: ENSG00000167202
Variants:
dbSNP: 23102
ClinVar: 23102
TCGA: ENSG00000167202
COSMIC: TBC1D2B
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000167202 | ENST00000300584 | Q9UPU7 |
| ENSG00000167202 | ENST00000409931 | Q9UPU7 |
| ENSG00000167202 | ENST00000435468 | C9JW56 |
| ENSG00000167202 | ENST00000465531 | H0YL97 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36029130 | 2022 | Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration. | 1 |
| 36029130 | 2022 | Biallelic frameshift variant in the TBC1D2B gene in two siblings with progressive gingival overgrowth, fibrous dysplasia of face, and mental deterioration. | 1 |
| 32623794 | 2020 | Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. | 5 |
| 32623794 | 2020 | Biallelic loss-of-function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. | 5 |
| 31719531 | 2019 | ZEB1/NuRD complex suppresses TBC1D2b to stimulate E-cadherin internalization and promote metastasis in lung cancer. | 50 |
| 31719531 | 2019 | ZEB1/NuRD complex suppresses TBC1D2b to stimulate E-cadherin internalization and promote metastasis in lung cancer. | 50 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
TBC1D2B (TBC1 domain family member 2B)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56364/tumors-explorer/gene-explorer/
