Identity
HGNC
LOCATION
20p13
LOCUSID
ALIAS
C20orf140,WARBM4
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: 128637
MIM: 611663
HGNC: 16133
Ensembl: ENSG00000125875
Variants:
dbSNP: 128637
ClinVar: 128637
TCGA: ENSG00000125875
COSMIC: TBC1D20
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000125875 | ENST00000354200 | Q96BZ9 |
| ENSG00000125875 | ENST00000461304 | Q96BZ9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 32162791 | 2020 | Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. | 3 |
| 32740904 | 2020 | Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. | 4 |
| 32162791 | 2020 | Martsolf syndrome with novel mutation in the TBC1D20 gene in a family from Iran. | 3 |
| 32740904 | 2020 | Micro and Martsolf syndromes in 34 new patients: Refining the phenotypic spectrum and further molecular insights. | 4 |
| 26063829 | 2015 | Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. | 18 |
| 26063829 | 2015 | Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation. | 18 |
| 24239381 | 2013 | Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. | 58 |
| 24239381 | 2013 | Loss-of-function mutations in TBC1D20 cause cataracts and male infertility in blind sterile mice and Warburg micro syndrome in humans. | 58 |
| 22260459 | 2012 | Human immunodeficiency virus type 1 envelope proteins traffic toward virion assembly sites via a TBC1D20/Rab1-regulated pathway. | 9 |
| 22491470 | 2012 | Role for TBC1D20 and Rab1 in hepatitis C virus replication via interaction with lipid droplet-bound nonstructural protein 5A. | 32 |
| 23236136 | 2012 | Catalytic mechanism of a mammalian Rab·RabGAP complex in atomic detail. | 29 |
| 22260459 | 2012 | Human immunodeficiency virus type 1 envelope proteins traffic toward virion assembly sites via a TBC1D20/Rab1-regulated pathway. | 9 |
| 22491470 | 2012 | Role for TBC1D20 and Rab1 in hepatitis C virus replication via interaction with lipid droplet-bound nonstructural protein 5A. | 32 |
| 23236136 | 2012 | Catalytic mechanism of a mammalian Rab·RabGAP complex in atomic detail. | 29 |
| 17901050 | 2007 | TBC1D20 is a Rab1 GTPase-activating protein that mediates hepatitis C virus replication. | 66 |
Citation
Dessen P
TBC1D20 (TBC1 domain family member 20)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/74519/tbc1d20-(tbc1-domain-family-member-20)
