GPATCH8 (G-patch domain containing 8)

2014-08-01  

Identity

HGNC
GPATCH8
LOCATION
17q21.31
LOCUSID
23131
ALIAS
GPATC8,KIAA0553
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Protein levels (Protein atlas)

Not detected
Low
Medium
High
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
215946102011Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.3
215946102011Hyperuricemia cosegregating with osteogenesis imperfecta is associated with a mutation in GPATCH8.3
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
206280862010Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.15
197296012009Candidate gene polymorphisms for ischemic stroke.17
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105
197296012009Candidate gene polymorphisms for ischemic stroke.17
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.105

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)