PIGA (phosphatidylinositol glycan anchor biosynthesis class A)

2007-04-01  

Identity

HGNC
PIGA
LOCATION
Xp22.2
LOCUSID
5277
ALIAS
GPI3,MCAHS2,PIG-A,PNH1

Other Information

Locus ID:

NCBI: 5277
MIM: 311770
HGNC: 8957
Ensembl: ENSG00000165195

Variants:

dbSNP: 5277
ClinVar: 5277
TCGA: ENSG00000165195
COSMIC: PIGA

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000165195ENST00000333590P37287
ENSG00000165195ENST00000333590A0A2K4ZA02
ENSG00000165195ENST00000475746A0A0U1RQF5
ENSG00000165195ENST00000482148P37287
ENSG00000165195ENST00000542278P37287
ENSG00000165195ENST00000542278A0A2K4ZA02
ENSG00000165195ENST00000634286A0A0U1RRE8
ENSG00000165195ENST00000634582P37287
ENSG00000165195ENST00000634640A0A0U1RQM9
ENSG00000165195ENST00000635543A0A0U1RQW8
ENSG00000165195ENST00000635598A8K382
ENSG00000165195ENST00000637296B3KUV7
ENSG00000165195ENST00000637626A0A1B0GU19
ENSG00000165195ENST00000638131A0A1B0GVE5

Expression (GTEx)

0
5
10
15
20
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
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
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
223055312012The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.55
156872432005PIG-A mutations in normal hematopoiesis.30
247060162014PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.29
242592882014A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.27
258855272015The genotypic and phenotypic spectrum of PIGA deficiency.24
243575172014Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.19
124241962003The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria (AA/PNH): a high incidence of multiple mutations and evidence of a mutational hot spot.15
178232372007On the origin of multiple mutant clones in paroxysmal nocturnal hemoglobinuria.12
190740662008The pathophysiology of disease in patients with paroxysmal nocturnal hemoglobinuria.12
190130032009Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH.10

Citation

Dessen P

PIGA (phosphatidylinositol glycan anchor biosynthesis class A)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/47443/piga