Property Summary

NCBI Gene PubMed Count 41
Grant Count 84
R01 Count 40
Funding $19,267,694.24
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 0.001
intraductal papillary-mucinous neoplasm ... 1.400 0.023
lung cancer -3.300 0.000
aldosterone-producing adenoma -1.383 0.033
lung carcinoma -1.100 0.000
chronic rhinosinusitis -1.177 0.009

Synonym

Accession P37287 B4E0V2 Q16025 Q16250
Symbols GPI3
PNH1
PIG-A
MCAHS2

Gene

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.
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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.
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