Identity
HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
DEE80,EIEE80,GPI-MT-III,PIG-B
FUSION GENES
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: 9488
MIM: 604122
HGNC: 8959
Ensembl: ENSG00000069943
Variants:
dbSNP: 9488
ClinVar: 9488
TCGA: ENSG00000069943
COSMIC: PIGB
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA128406956 | fluorouracil | Chemical | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 28537877 | |
| PA443560 | Breast Neoplasms | Disease | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 28537877 | |
| PA444773 | Leukopenia | Disease | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 28537877 | |
| PA445113 | Neutropenia | Disease | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 28537877 | |
| PA449165 | cyclophosphamide | Chemical | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 28537877 | |
| PA449383 | docetaxel | Chemical | VariantAnnotation | not associated | PD | ||
| PA449476 | epirubicin | Chemical | ClinicalAnnotation, VariantAnnotation | ambiguous | PD | 28537877 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34400385 | 2021 | A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. | 0 |
| 34400385 | 2021 | A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects. | 0 |
| 31256876 | 2019 | Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. | 19 |
| 31256876 | 2019 | Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases. | 19 |
| 29764287 | 2018 | Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z. | 9 |
| 29764287 | 2018 | Function of a membrane-embedded domain evolutionarily multiplied in the GPI lipid anchor pathway proteins PIG-B, PIG-M, PIG-U, PIG-W, PIG-V, and PIG-Z. | 9 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 18198489 | 2007 | siRNA-mediated inhibition of phosphatidylinositol glycan Class B (PIGB) confers resistance to methylmercury in HEK293 cells. | 1 |
| 18198489 | 2007 | siRNA-mediated inhibition of phosphatidylinositol glycan Class B (PIGB) confers resistance to methylmercury in HEK293 cells. | 1 |
Citation
Dessen P
PIGB (phosphatidylinositol glycan anchor biosynthesis class B)
Atlas Genet Cytogenet Oncol Haematol. 2007-04-01
Online version: http://atlasgeneticsoncology.org/gene/47194/pigb
