Identity
HGNC
LOCATION
Xq22.3
LOCUSID
ALIAS
GRAMD8B,NPHS20
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: 54885
MIM: 301027
HGNC: 24715
Ensembl: ENSG00000133138
Variants:
dbSNP: 54885
ClinVar: 54885
TCGA: ENSG00000133138
COSMIC: TBC1D8B
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38110796 | 2024 | A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression. | 0 |
| 38110796 | 2024 | A human-specific insertion promotes cell proliferation and migration by enhancing TBC1D8B expression. | 0 |
| 34092754 | 2021 | TBC1D8B, a GTPase-activating protein, is a novel apoptosis inducer. | 1 |
| 34092754 | 2021 | TBC1D8B, a GTPase-activating protein, is a novel apoptosis inducer. | 1 |
| 30661770 | 2019 | TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. | 21 |
| 31732614 | 2019 | TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. | 16 |
| 30661770 | 2019 | TBC1D8B Loss-of-Function Mutations Lead to X-Linked Nephrotic Syndrome via Defective Trafficking Pathways. | 21 |
| 31732614 | 2019 | TBC1D8B Mutations Implicate RAB11-Dependent Vesicular Trafficking in the Pathogenesis of Nephrotic Syndrome. | 16 |
Citation
Dessen P
TBC1D8B (TBC1 domain family member 8B)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56024/chromosome-explorer/tumors-explorer/
