PIGO (phosphatidylinositol glycan anchor biosynthesis class O)

2007-04-01  

Identity

HGNC
PIGO
LOCATION
9p13.3
LOCUSID
84720
ALIAS
HPMRS2

Other Information

Locus ID:

NCBI: 84720
MIM: 614730
HGNC: 23215
Ensembl: ENSG00000165282

Variants:

dbSNP: 84720
ClinVar: 84720
TCGA: ENSG00000165282
COSMIC: PIGO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165282ENST00000298004Q8TEQ8
ENSG00000165282ENST00000361778Q8TEQ8
ENSG00000165282ENST00000378617Q8TEQ8

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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

Pathways

PathwaySourceExternal ID
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
Metabolic pathwaysKEGGhsa01100
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Synthesis of glycosylphosphatidylinositol (GPI)REACTOMER-HSA-162710

References

Pubmed IDYearTitleCitations
199131212009Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.85
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
226830862012Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.50
283275752017Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.22
244177462014PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.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.11
283378242017Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties.6

Citation

Dessen P

PIGO (phosphatidylinositol glycan anchor biosynthesis class O)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47343/pigo