TBC1D2 (TBC1 domain family member 2)

2016-10-01  

Identity

HGNC
LOCATION
9q22.33
LOCUSID
ALIAS
PARIS-1,PARIS1,TBC1D2A
FUSION GENES

Other Information

Locus ID:

NCBI: 55357
MIM: 609871
HGNC: 18026
Ensembl: ENSG00000095383

Variants:

dbSNP: 55357
ClinVar: 55357
TCGA: ENSG00000095383
COSMIC: TBC1D2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000095383ENST00000342112Q9BYX2
ENSG00000095383ENST00000375063Q9BYX2
ENSG00000095383ENST00000375063A0A024R166
ENSG00000095383ENST00000375064Q9BYX2
ENSG00000095383ENST00000375066Q9BYX2
ENSG00000095383ENST00000465784Q9BYX2

Expression (GTEx)

0
10
20
30
40
50
60

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
201162442010Armus is a Rac1 effector that inactivates Rab7 and regulates E-cadherin degradation.42
235622782013The TBC/RabGAP Armus coordinates Rac1 and Rab7 functions during autophagy.34
232850842012miR-17-5p regulates endocytic trafficking through targeting TBC1D2/Armus.15
205831702010Follow-up association studies of chromosome region 9q and nonsyndromic cleft lip/palate.8
209446572011Replication of top markers of a genome-wide association study in multiple sclerosis in Spain.8

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