TBC1D10C (TBC1 domain family member 10C)

2016-10-01  

Identity

HGNC
LOCATION
11q13.2
LOCUSID
ALIAS
CARABIN,EPI64C

Other Information

Locus ID:

NCBI: 374403
MIM: 610831
HGNC: 24702
Ensembl: ENSG00000175463

Variants:

dbSNP: 374403
ClinVar: 374403
TCGA: ENSG00000175463
COSMIC: TBC1D10C

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175463ENST00000312390Q8IV04
ENSG00000175463ENST00000526387Q8IV04
ENSG00000175463ENST00000529635E9PSB7
ENSG00000175463ENST00000542590Q8IV04

Expression (GTEx)

0
50
100
150
200

Pathways

PathwaySourceExternal ID
Immune SystemREACTOMER-HSA-168256
Innate Immune SystemREACTOMER-HSA-168249
Vesicle-mediated transportREACTOMER-HSA-5653656
Membrane TraffickingREACTOMER-HSA-199991
Neutrophil degranulationREACTOMER-HSA-6798695
TBC/RABGAPsREACTOMER-HSA-8854214

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.11
294375892018Prolyl 4-hydroxylase 2 promotes B-cell lymphoma progression via hydroxylation of Carabin.4
172301912007Feedback inhibition of calcineurin and Ras by a dual inhibitory protein Carabin.0
172301912007Feedback inhibition of calcineurin and Ras by a dual inhibitory protein Carabin.0
231092912012Carabin deficiency in B cells increases BCR-TLR9 costimulation-induced autoimmunity.0

Citation

Dessen P

TBC1D10C (TBC1 domain family member 10C)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56225/tbc1d10c