GPATCH8 (G-patch domain containing 8)

2014-08-01  

Identity

HGNC
LOCATION
17q21.31
LOCUSID
ALIAS
GPATC8,KIAA0553
FUSION GENES

Other Information

Locus ID:

NCBI: 23131
MIM: 614396
HGNC: 29066
Ensembl: ENSG00000186566

Variants:

dbSNP: 23131
ClinVar: 23131
TCGA: ENSG00000186566
COSMIC: GPATCH8

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000186566ENST00000585614K7EKU0
ENSG00000186566ENST00000586037K7EQK8
ENSG00000186566ENST00000587228Q9UKJ3
ENSG00000186566ENST00000590041K7EQK8
ENSG00000186566ENST00000591680Q9UKJ3
ENSG00000186566ENST00000592746K7EQK8

Expression (GTEx)

0
10
20
30
40
50
60
70
80
90

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
197296012009Candidate gene polymorphisms for ischemic stroke.14
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
215946102011Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.1

Citation

Dessen P

GPATCH8 (G-patch domain containing 8)

Atlas Genet Cytogenet Oncol Haematol. 2014-08-01

Online version: http://atlasgeneticsoncology.org/gene/54341/gpatch8-(g-patch-domain-containing-8)