STARD8 (StAR related lipid transfer domain containing 8)

2014-11-01  

Identity

HGNC
LOCATION
Xq13.1
LOCUSID
ALIAS
ARHGAP38,DLC3,STARTGAP3

Other Information

Locus ID:

NCBI: 9754
MIM: 300689
HGNC: 19161
Ensembl: ENSG00000130052

Variants:

dbSNP: 9754
ClinVar: 9754
TCGA: ENSG00000130052
COSMIC: STARD8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000130052ENST00000252336Q92502
ENSG00000130052ENST00000374597Q92502
ENSG00000130052ENST00000374599Q92502
ENSG00000130052ENST00000523864E5RFN7

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45

Pathways

PathwaySourceExternal ID
Signal TransductionREACTOMER-HSA-162582
Signaling by Rho GTPasesREACTOMER-HSA-194315
Rho GTPase cycleREACTOMER-HSA-194840

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
256738742015The Rho-specific GAP protein DLC3 coordinates endocytic membrane trafficking.16
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
275058942016The polarity protein Scribble positions DLC3 at adherens junctions to regulate Rho signaling.11
310765132019DLC3 suppresses MT1-MMP-dependent matrix degradation by controlling RhoB and actin remodeling at endosomal membranes.1

Citation

Dessen P

STARD8 (StAR related lipid transfer domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/74299/stard8