TBC1D17 (TBC1 domain family member 17)

2017-04-01  

Identity

HGNC
LOCATION
19q13.33
LOCUSID
ALIAS
-
FUSION GENES

Other Information

Locus ID:

NCBI: 79735
MIM: 616659
HGNC: 25699
Ensembl: ENSG00000104946

Variants:

dbSNP: 79735
ClinVar: 79735
TCGA: ENSG00000104946
COSMIC: TBC1D17

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000104946ENST00000221543Q9HA65
ENSG00000104946ENST00000535102Q9HA65
ENSG00000104946ENST00000594984M0QYC9
ENSG00000104946ENST00000594996M0QXA2
ENSG00000104946ENST00000599049M0R2L2
ENSG00000104946ENST00000622860A0A087WXG5

Expression (GTEx)

0
50
100
150

Pathways

PathwaySourceExternal ID
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
TBC/RABGAPsREACTOMER-HSA-8854214
Mitophagy - animalKEGGko04137
Mitophagy - animalKEGGhsa04137

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
245694792014Mitochondrial Rab GAPs govern autophagosome biogenesis during mitophagy.90
228540402012Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.21

Citation

Dessen P

TBC1D17 (TBC1 domain family member 17)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56724/tbc1d17