Identity
HGNC
LOCATION
9q22.33
LOCUSID
ALIAS
PARIS-1,PARIS1,TBC1D2A
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: 55357
MIM: 609871
HGNC: 18026
Ensembl: ENSG00000095383
Variants:
dbSNP: 55357
ClinVar: 55357
TCGA: ENSG00000095383
COSMIC: TBC1D2
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 |
|---|---|---|---|
| 23562278 | 2013 | The TBC/RabGAP Armus coordinates Rac1 and Rab7 functions during autophagy. | 53 |
| 23562278 | 2013 | The TBC/RabGAP Armus coordinates Rac1 and Rab7 functions during autophagy. | 53 |
| 23285084 | 2012 | miR-17-5p regulates endocytic trafficking through targeting TBC1D2/Armus. | 24 |
| 23285084 | 2012 | miR-17-5p regulates endocytic trafficking through targeting TBC1D2/Armus. | 24 |
| 20944657 | 2011 | Replication of top markers of a genome-wide association study in multiple sclerosis in Spain. | 12 |
| 20944657 | 2011 | Replication of top markers of a genome-wide association study in multiple sclerosis in Spain. | 12 |
| 20116244 | 2010 | Armus is a Rac1 effector that inactivates Rab7 and regulates E-cadherin degradation. | 56 |
| 20583170 | 2010 | Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. | 13 |
| 20116244 | 2010 | Armus is a Rac1 effector that inactivates Rab7 and regulates E-cadherin degradation. | 56 |
| 20583170 | 2010 | Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate. | 13 |
Citation
Dessen P
TBC1D2 (TBC1 domain family member 2)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56425/tbc1d2-(tbc1-domain-family-member-2)
