PIGB (phosphatidylinositol glycan anchor biosynthesis class B)

2007-04-01  

Identity

HGNC
PIGB
LOCATION
15q21.3
LOCUSID
9488
ALIAS
DEE80,EIEE80,GPI-MT-III,PIG-B
FUSION GENES
Show Gene Fusions

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
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
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
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

PharmGKB

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

References

Pubmed IDYearTitleCitations
344003852021A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.0
344003852021A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects.0
312568762019Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.19
312568762019Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.19
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.9
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.9
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
181984892007siRNA-mediated inhibition of phosphatidylinositol glycan Class B (PIGB) confers resistance to methylmercury in HEK293 cells.1
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/css/lib/haematological-explorer/