PIGB (phosphatidylinositol glycan anchor biosynthesis class B)

2007-04-01  

Identity

HGNC
LOCATION
15q21.3
LOCUSID
ALIAS
DEE80,EIEE80,GPI-MT-III,PIG-B
FUSION GENES

Other Information

Locus ID:

NCBI: 9488
MIM: 604122
HGNC: 8959
Ensembl: ENSG00000069943

Variants:

dbSNP: 9488
ClinVar: 9488
TCGA: ENSG00000069943
COSMIC: PIGB

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000069943ENST00000164305Q92521
ENSG00000069943ENST00000539642F5H1S1
ENSG00000069943ENST00000565367H3BQU3
ENSG00000069943ENST00000565502H3BNW7
ENSG00000069943ENST00000566999H3BS45
ENSG00000069943ENST00000570059H3BRK6

Expression (GTEx)

0
5
10
15

Pathways

PathwaySourceExternal ID
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
Metabolic pathwaysKEGGhsa01100
GPI-anchor biosynthesis, core oligosaccharideKEGGhsa_M00065
GPI-anchor biosynthesis, core oligosaccharideKEGGM00065
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

Protein levels (Protein atlas)

Not detected
Low
Medium
High

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA128406956fluorouracilChemicalClinicalAnnotation, VariantAnnotationambiguousPD28537877
PA443560Breast NeoplasmsDiseaseClinicalAnnotation, VariantAnnotationambiguousPD28537877
PA444773LeukopeniaDiseaseClinicalAnnotation, VariantAnnotationambiguousPD28537877
PA445113NeutropeniaDiseaseClinicalAnnotation, VariantAnnotationambiguousPD28537877
PA449165cyclophosphamideChemicalClinicalAnnotation, VariantAnnotationambiguousPD28537877
PA449383docetaxelChemicalVariantAnnotationnot associatedPD
PA449476epirubicinChemicalClinicalAnnotation, VariantAnnotationambiguousPD28537877

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
297642872018Function 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.4
312568762019Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.3
181984892007siRNA-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