Property Summary

NCBI Gene PubMed Count 41
PubMed Score 408.73
PubTator Score 122.48

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (6)

Disease log2 FC p
interstitial lung disease -2.300 1.1e-03
intraductal papillary-mucinous neoplasm ... 1.400 2.3e-02
lung cancer -3.300 1.1e-06
aldosterone-producing adenoma -1.383 3.3e-02
lung carcinoma -1.100 3.4e-06
chronic rhinosinusitis -1.177 8.9e-03

Protein-protein Interaction (6)

Gene RIF (18)

PMID Text
26545172 A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
25885527 This case reports on a new missense PIGA germline mutation in a Chinese male infant presenting with developmental arrest and multisystemic disorders.
24706016 The results of this study confirmed that PIGA mutations are one genetic cause of early-onset epileptic encephalopathies, suggesting that GPI-anchor deficiencies may be an underlying cause of EOEE.
24357517 Our data strongly suggest that the early frameshift mutation in PIGA produces a truncated hypomorph, which is sufficient to rescue the lethality in males but not the MCAHS2-like phenotype.
24259288 the PIGA mutation in this family likely causes a reduction in GPI anchor protein cell surface expression in various cell types, resulting in the observed pleiotropic phenotype involving central nervous system, skin, and iron metabolism.
22315493 The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells.
22305531 An X chromosome exome next-generation sequencing screen identified a single nonsense PIGA mutation.
21116280 loss of PIG-A or a combination of genes within the 0.5 Mb commonly deleted region leads to a phenotype capable of avoiding immune surveillance, but is not inherently malignant.
19074066 Paroxysmal nocturnal hemoglobinuria is an acquired hemolytic anemia caused by the expansion of a hematopoietic progenitor cell that has acquired a mutation in the X-linked PIGA gene.
19013003 PIG-A mutations contribute to clonal expansion in PNH by conferring a survival advantage to hematopoietic progenitors under proapoptotic stresses.
17823237 In patients with paroxysmal nocturnal hemoglobinuria, it is very unlikely that more than one PIG-A mutated clone arises at the level of the hematopoietic stem cells.
16923549 review of the clinical and biological relevance of PIG-A mutations in paroxysmal nocturnal hemoglobinuria, aplastic anemia and healthy controls [review]
15687243 PIG-A mutations are relatively common in normal hematopoiesis
15625823 the PIG-A mutations in paroxysmal nocturnal hemoglobinuria patients
12424196 The spectrum of PIG-A gene mutations in aplastic anemia/paroxysmal nocturnal hemoglobinuria reveals a high incidence of multiple mutations and evidence of a mutational hot spot.
12411324 PIG-A gene abnormality in precursor cells and changes of expression of GPI-anchored protein and contribution of paroxysmal nocturnal hemoglobinuria clones with PIG-A gene abnormalities among various cell lineages during differentiation and maturation
12130519 Decreased susceptibility of leukemic cells with PIG-A mutation to natural killer cells in vitro allows paroxysmal nocturnal hemoglobinuria clones to escape immune attack.
12037021 Molecular testing for mutations in the PIG-A gene can serve as a confirmation test of paroxysmal nocturnal hemoglobinuria.

AA Sequence

MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIV      1 - 70
THAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALF     71 - 140
HAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAV    141 - 210
DPTDFTPDPFRRHDSITIVVVSRLVYRKGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQL    211 - 280
HDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEP    281 - 350
SVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC    351 - 420
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEISETR          421 - 484
//

Text Mined References (46)

PMID Year Title
26923721 2016 A novel PIGA mutation in a family with X-linked, early-onset epileptic encephalopathy.
26545172 2016 A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
25885527 2015 The genotypic and phenotypic spectrum of PIGA deficiency.
24706016 2014 PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
24357517 2014 Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
24259288 2014 A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
24259184 2014 Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
22315493 2012 The small population of PIG-A mutant cells in myelodysplastic syndromes do not arise from multipotent hematopoietic stem cells.
22305531 2012 The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.
21116280 2011 Deletions of Xp22.2 including PIG-A locus lead to paroxysmal nocturnal hemoglobinuria.
20533382 2010 Guidelines for the diagnosis and monitoring of paroxysmal nocturnal hemoglobinuria and related disorders by flow cytometry.
20060400 2010 A quantitative analysis of genomic instability in lymphoid and plasma cell neoplasms based on the PIG-A gene.
20034593 The use of PIG-A as a sentinel gene for the study of the somatic mutation rate and of mutagenic agents in vivo.
19946888 2010 Defining the membrane proteome of NK cells.
19540188 2009 Gene targeting of a disease-related gene in human induced pluripotent stem and embryonic stem cells.
19074066 2008 The pathophysiology of disease in patients with paroxysmal nocturnal hemoglobinuria.
19013003 2009 Glycosylphosphatidylinositol-anchored protein deficiency confers resistance to apoptosis in PNH.
18691976 2008 Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.
17823237 2007 On the origin of multiple mutant clones in paroxysmal nocturnal hemoglobinuria.
16923549 2006 PIG-A mutations in paroxysmal nocturnal hemoglobinuria and in normal hematopoiesis.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16162815 2005 The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.
15772651 2005 The DNA sequence of the human X chromosome.
15687243 2005 PIG-A mutations in normal hematopoiesis.
15625823 1997 [Somatic mutations of PIG-A gene in Chinese patients with paroxysmal nocturnal hemoglobinuria].
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12424196 2003 The 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.
12411324 2002 Phenotypes and phosphatidylinositol glycan-class A gene abnormalities during cell differentiation and maturation from precursor cells to mature granulocytes in patients with paroxysmal nocturnal hemoglobinuria.
12130519 2002 Decreased susceptibility of leukemic cells with PIG-A mutation to natural killer cells in vitro.
12037021 2002 Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.
11102867 2000 Dissecting and manipulating the pathway for glycosylphos-phatidylinositol-anchor biosynthesis.
10944123 2000 Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2.
10087994 1998 The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.
9463366 1998 The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.
8900170 1996 PIG-A and PIG-H, which participate in glycosylphosphatidylinositol anchor biosynthesis, form a protein complex in the endoplasmic reticulum.
8557259 1996 Identification of three novel mutations in the PIG-A gene in paroxysmal nocturnal haemoglobinuria (PNH) patients.
8500164 1993 Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.
8306954 1994 Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.
8193350 1994 Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.
8167330 1994 Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.
8081362 1994 Genomic organization of the X-linked gene (PIG-A) that is mutated in paroxysmal nocturnal haemoglobinuria and of a related autosomal pseudogene mapped to 12q21.
8081230 1994 Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells.
7680492 1993 The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis.