Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 84720
MIM: 614730
HGNC: 23215
Ensembl: ENSG00000165282
Variants:
dbSNP: 84720
ClinVar: 84720
TCGA: ENSG00000165282
COSMIC: PIGO
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000165282 | ENST00000298004 | Q8TEQ8 |
| ENSG00000165282 | ENST00000361778 | Q8TEQ8 |
| ENSG00000165282 | ENST00000378617 | Q8TEQ8 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 28327575 | 2017 | Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. | 41 |
| 28337824 | 2017 | Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. | 14 |
| 28327575 | 2017 | Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. | 41 |
| 28337824 | 2017 | Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties. | 14 |
| 24417746 | 2014 | PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. | 26 |
| 24417746 | 2014 | PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. | 26 |
| 22683086 | 2012 | Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. | 68 |
| 22683086 | 2012 | Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. | 68 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20628086 | 2010 | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. | 15 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
| 19913121 | 2009 | Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip. | 105 |
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
