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
372712762023PIG-A gene mutation as a mutagenicity biomarker among coke oven workers.1
375891952023Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.0
372712762023PIG-A gene mutation as a mutagenicity biomarker among coke oven workers.1
375891952023Congenital diaphragmatic hernia in siblings with PIGA-related congenital disorder of glycosylation.0
348750272022Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.3
348750272022Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.3
331694192021Evaluation of PIG-A-mutated granulocytes and ex-vivo binucleated micronucleated lymphocytes frequencies after breast cancer radiotherapy in humans.1
334836142021Implication of PIGA genotype on erythrocytes phenotype in Paroxysmal Nocturnal Hemoglobinuria.7
331694192021Evaluation of PIG-A-mutated granulocytes and ex-vivo binucleated micronucleated lymphocytes frequencies after breast cancer radiotherapy in humans.1
334836142021Implication of PIGA genotype on erythrocytes phenotype in Paroxysmal Nocturnal Hemoglobinuria.7
323590222020Identification of acquired PIGA mutations and additional variants by next-generation sequencing in paroxysmal nocturnal hemoglobinuria.5
324525402020Lessons learned from 40 novel PIGA patients and a review of the literature.24
325622132020PIGA-related epileptic encephalopathy demonstrating intrafamilial phenotypic heterogeneity.0
326940242020Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases.1
328756082020Mutations in PIGA cause a CD52-/GPI-anchor-deficient phenotype complicating alemtuzumab treatment in T-cell prolymphocytic leukemia.2

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/js/lib/js/lib/favicon/favicon-32x32.png