Details for: PIGA

Gene ID: 5277

Symbol: PIGA

Ensembl ID: ENSG00000165195

Description: phosphatidylinositol glycan anchor biosynthesis class A

Associated with

  • Metabolism of proteins
    (R-HSA-392499)
  • Post-translational modification: synthesis of gpi-anchored proteins
    (R-HSA-163125)
  • Post-translational protein modification
    (R-HSA-597592)
  • Synthesis of glycosylphosphatidylinositol (gpi)
    (R-HSA-162710)
  • Cellular response to leukemia inhibitory factor
    (GO:1990830)
  • Endoplasmic reticulum membrane
    (GO:0005789)
  • Glycosylphosphatidylinositol-n-acetylglucosaminyltransferase (gpi-gnt) complex
    (GO:0000506)
  • Gpi anchor biosynthetic process
    (GO:0006506)
  • Membrane
    (GO:0016020)
  • Phosphatidylinositol n-acetylglucosaminyltransferase activity
    (GO:0017176)
  • Protein binding
    (GO:0005515)
  • Udp-glycosyltransferase activity
    (GO:0008194)

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 67.1830
    Cell Significance Index: -10.4500
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 44.8267
    Cell Significance Index: -11.3700
  • Cell Name: embryonic stem cell (CL0002322)
    Fold Change: 30.3437
    Cell Significance Index: -12.5000
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 25.7226
    Cell Significance Index: -10.4500
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 10.9035
    Cell Significance Index: -10.4100
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 9.4002
    Cell Significance Index: -11.5900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 4.2742
    Cell Significance Index: -11.4500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 2.9979
    Cell Significance Index: -11.8300
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 2.8350
    Cell Significance Index: 147.2700
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: 2.0332
    Cell Significance Index: 27.7400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 1.1939
    Cell Significance Index: 227.2000
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 1.0738
    Cell Significance Index: -2.3500
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 1.0727
    Cell Significance Index: 17.2100
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9065
    Cell Significance Index: 24.6800
  • Cell Name: myometrial cell (CL0002366)
    Fold Change: 0.8474
    Cell Significance Index: 9.7600
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.8041
    Cell Significance Index: 17.4200
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.7844
    Cell Significance Index: 77.6000
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6085
    Cell Significance Index: 549.4500
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.4682
    Cell Significance Index: 50.9300
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.4375
    Cell Significance Index: 71.1600
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.4341
    Cell Significance Index: 26.0600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.3281
    Cell Significance Index: 8.7600
  • Cell Name: corneal epithelial cell (CL0000575)
    Fold Change: 0.3175
    Cell Significance Index: 4.5200
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: 0.2701
    Cell Significance Index: 3.8700
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.2671
    Cell Significance Index: 19.9100
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.2376
    Cell Significance Index: 6.8500
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.2322
    Cell Significance Index: 16.0600
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2050
    Cell Significance Index: 9.2900
  • Cell Name: umbrella cell of urothelium (CL4030056)
    Fold Change: 0.2042
    Cell Significance Index: 1.8800
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.1695
    Cell Significance Index: 4.8600
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: 0.1693
    Cell Significance Index: 19.3200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1672
    Cell Significance Index: 20.5600
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1484
    Cell Significance Index: 6.9200
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1478
    Cell Significance Index: 19.1000
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: 0.1216
    Cell Significance Index: 3.0400
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.1147
    Cell Significance Index: 4.0300
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1053
    Cell Significance Index: 18.9800
  • Cell Name: peg cell (CL4033014)
    Fold Change: 0.0918
    Cell Significance Index: 2.1200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.0827
    Cell Significance Index: 45.1600
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0820
    Cell Significance Index: 3.8600
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.0665
    Cell Significance Index: 13.3300
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0656
    Cell Significance Index: 29.0200
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.0551
    Cell Significance Index: 7.5600
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0505
    Cell Significance Index: 5.9500
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.0314
    Cell Significance Index: 6.2400
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 0.0310
    Cell Significance Index: 0.0700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.0298
    Cell Significance Index: 2.2900
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0283
    Cell Significance Index: 53.3200
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0239
    Cell Significance Index: 1.3400
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0155
    Cell Significance Index: 2.6500
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: 0.0150
    Cell Significance Index: 9.5500
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0139
    Cell Significance Index: 9.5900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.0132
    Cell Significance Index: 0.3700
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: 0.0122
    Cell Significance Index: 1.7700
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0106
    Cell Significance Index: 4.7900
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.0090
    Cell Significance Index: 3.2300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.0049
    Cell Significance Index: 0.1300
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0031
    Cell Significance Index: 4.7700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0021
    Cell Significance Index: 1.5800
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0008
    Cell Significance Index: 0.1000
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0012
    Cell Significance Index: -0.6600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0031
    Cell Significance Index: -2.3100
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.0038
    Cell Significance Index: -0.0800
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0040
    Cell Significance Index: -2.4700
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0041
    Cell Significance Index: -7.5400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0062
    Cell Significance Index: -8.3900
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0113
    Cell Significance Index: -8.2500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0196
    Cell Significance Index: -2.0000
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0293
    Cell Significance Index: -6.1700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0297
    Cell Significance Index: -8.5500
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0331
    Cell Significance Index: -0.2700
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.0335
    Cell Significance Index: -2.1600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.0349
    Cell Significance Index: -1.8200
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0355
    Cell Significance Index: -2.5100
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0356
    Cell Significance Index: -4.0800
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.0399
    Cell Significance Index: -4.6500
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.0486
    Cell Significance Index: -3.0600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.0576
    Cell Significance Index: -0.3900
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.0622
    Cell Significance Index: -1.2900
  • Cell Name: CD14-positive, CD16-negative classical monocyte (CL0002057)
    Fold Change: -0.0638
    Cell Significance Index: -1.1800
  • Cell Name: myeloid lineage restricted progenitor cell (CL0000839)
    Fold Change: -0.0827
    Cell Significance Index: -1.1600
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0902
    Cell Significance Index: -9.3900
  • Cell Name: endothelial cell of venule (CL1000414)
    Fold Change: -0.1202
    Cell Significance Index: -1.3700
  • Cell Name: fibro/adipogenic progenitor cell (CL0009099)
    Fold Change: -0.1205
    Cell Significance Index: -6.0900
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1341
    Cell Significance Index: -10.6200
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.1385
    Cell Significance Index: -7.2700
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1474
    Cell Significance Index: -9.0400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.1532
    Cell Significance Index: -10.3000
  • Cell Name: neuron associated cell (CL0000095)
    Fold Change: -0.1552
    Cell Significance Index: -6.3600
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.1574
    Cell Significance Index: -5.0400
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1591
    Cell Significance Index: -9.7800
  • Cell Name: luminal hormone-sensing cell of mammary gland (CL4033058)
    Fold Change: -0.1722
    Cell Significance Index: -1.0600
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: -0.1822
    Cell Significance Index: -6.3300
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.1942
    Cell Significance Index: -2.0100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: -0.1948
    Cell Significance Index: -5.2200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.2027
    Cell Significance Index: -5.3300
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.2174
    Cell Significance Index: -7.9800
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2181
    Cell Significance Index: -9.6500
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.2231
    Cell Significance Index: -6.5700
  • Cell Name: vascular lymphangioblast (CL0005022)
    Fold Change: -0.2252
    Cell Significance Index: -3.9800

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics:** PIGA is a gene that encodes a protein responsible for the synthesis of the GlcNAc-PI moiety, a crucial component of GPI anchors. The PIGA protein is specifically localized to the endoplasmic reticulum (ER) membrane, where it interacts with other proteins to facilitate the assembly of GPI anchors. The PIGA protein is highly expressed in various cell types, including glandular epithelial cells, bladder urothelial cells, and immune cells such as GABAergic interneurons and intestinal epithelial cells. **Pathways and Functions:** The PIGA protein is involved in several critical pathways, including: 1. **GPI anchor biosynthesis process**: PIGA is essential for the synthesis of GPI anchors, which are covalently attached to proteins, enabling them to interact with the cell membrane and other proteins. 2. **Glycosylphosphatidylinositol-n-acetylglucosaminyltransferase (gpi-gnt) complex**: PIGA interacts with other proteins to form a complex that catalyzes the transfer of GlcNAc-PI to a protein, resulting in the formation of a GPI anchor. 3. **Post-translational modification: synthesis of GPI-anchored proteins**: PIGA is involved in the synthesis of GPI-anchored proteins, which are essential for various cellular processes, including cell signaling, adhesion, and immune response. 4. **Phosphatidylinositol n-acetylglucosaminyltransferase activity**: PIGA has been shown to possess phosphatidylinositol n-acetylglucosaminyltransferase activity, which is essential for the synthesis of GPI anchors. **Clinical Significance:** Dysregulation of PIGA has been implicated in various diseases, including: 1. **Autoimmune diseases**: PIGA has been shown to play a role in the regulation of immune cell function, particularly in the context of autoimmune diseases such as multiple sclerosis and rheumatoid arthritis. 2. **Cancer**: PIGA has been implicated in the development and progression of cancer, particularly in the context of epithelial-to-mesenchymal transition (EMT) and metastasis. 3. **Neurological disorders**: PIGA has been shown to play a role in the regulation of GABAergic neurotransmission, and dysregulation of PIGA has been implicated in neurological disorders such as epilepsy and schizophrenia. In conclusion, the PIGA gene plays a critical role in the biosynthesis of GPI-anchored proteins, which are essential for various cellular processes, including cell signaling, adhesion, and immune response. Dysregulation of PIGA has been implicated in various diseases, including autoimmune diseases, cancer, and neurological disorders. Further research is necessary to fully elucidate the mechanisms by which PIGA regulates immune cell function and to explore its therapeutic potential.

Genular Protein ID: 797766149

Symbol: PIGA_HUMAN

Name: GlcNAc-PI synthesis protein

UniProtKB Accession Codes:

P37287 B4E0V2 Q16025 Q16250

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CAZy 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 5 ComplexPortal 1 DMDM 1 DNASU 1 DisGeNET 1 EC 1 EMBL 11 Ensembl 4 ExpressionAtlas 1 GO 8 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 3 KEGG 1 MANE-Select 1 MIM 7 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 5 OrthoDB 1 PANTHER 2 PIR 1 PRO 1 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 1 RefSeq 3 Rhea 2 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 7680492

Title: The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis.

PubMed ID: 7680492

DOI: 10.1126/science.7680492

PubMed ID: 8081362

Title: 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.

PubMed ID: 8081362

DOI: 10.1093/hmg/3.5.751

PubMed ID: 8193350

Title: Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria.

PubMed ID: 8193350

PubMed ID: 8081230

Title: Characterization of alternatively spliced PIG-A transcripts in normal and paroxysmal nocturnal hemoglobinuria cells.

PubMed ID: 8081230

PubMed ID: 14702039

Title: Complete sequencing and characterization of 21,243 full-length human cDNAs.

PubMed ID: 14702039

DOI: 10.1038/ng1285

PubMed ID: 15772651

Title: The DNA sequence of the human X chromosome.

PubMed ID: 15772651

DOI: 10.1038/nature03440

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 8500164

Title: Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria.

PubMed ID: 8500164

DOI: 10.1016/0092-8674(93)90250-t

PubMed ID: 9463366

Title: The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.

PubMed ID: 9463366

DOI: 10.1093/emboj/17.4.877

PubMed ID: 16162815

Title: The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component.

PubMed ID: 16162815

DOI: 10.1091/mbc.e05-08-0743

PubMed ID: 18691976

Title: Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle.

PubMed ID: 18691976

DOI: 10.1016/j.molcel.2008.07.007

PubMed ID: 22305531

Title: The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria.

PubMed ID: 22305531

DOI: 10.1016/j.ajhg.2011.11.031

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 8306954

Title: Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene.

PubMed ID: 8306954

DOI: 10.1002/j.1460-2075.1994.tb06240.x

PubMed ID: 8167330

Title: Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria.

PubMed ID: 8167330

PubMed ID: 10087994

Title: The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications.

PubMed ID: 10087994

DOI: 10.1006/bcmd.1998.0203

PubMed ID: 12037021

Title: Mutation analysis of the PIG-A gene in Korean patients with paroxysmal nocturnal haemoglobinuria.

PubMed ID: 12037021

DOI: 10.1136/jcp.55.6.410

PubMed ID: 24259288

Title: A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.

PubMed ID: 24259288

DOI: 10.1002/ajmg.a.36189

PubMed ID: 24259184

Title: 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.

PubMed ID: 24259184

DOI: 10.1002/ajmg.a.36184

PubMed ID: 24706016

Title: PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.

PubMed ID: 24706016

DOI: 10.1212/wnl.0000000000000389

PubMed ID: 26545172

Title: A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

PubMed ID: 26545172

DOI: 10.1002/ajmg.a.37452

PubMed ID: 26993267

Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

PubMed ID: 26993267

DOI: 10.1136/jmedgenet-2015-103263

PubMed ID: 27864847

Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.

PubMed ID: 27864847

DOI: 10.1002/humu.23149

PubMed ID: 34875027

Title: Constitutional PIGA mutations cause a novel subtype of hemochromatosis in patients with neurologic dysfunction.

PubMed ID: 34875027

DOI: 10.1182/blood.2021013519

Sequence Information:

  • Length: 484
  • Mass: 54127
  • Checksum: 34DCD074A3920852
  • Sequence:
    • MACRGGAGNG HRASATLSRV SPGSLYTCRT RTHNICMVSD FFYPNMGGVE SHIYQLSQCL 
IERGHKVIIV THAYGNRKGI RYLTSGLKVY YLPLKVMYNQ STATTLFHSL PLLRYIFVRE 
RVTIIHSHSS FSAMAHDALF HAKTMGLQTV FTDHSLFGFA DVSSVLTNKL LTVSLCDTNH 
IICVSYTSKE NTVLRAALNP EIVSVIPNAV DPTDFTPDPF RRHDSITIVV VSRLVYRKGI 
DLLSGIIPEL CQKYPDLNFI IGGEGPKRII LEEVRERYQL HDRVRLLGAL EHKDVRNVLV 
QGHIFLNTSL TEAFCMAIVE AASCGLQVVS TRVGGIPEVL PENLIILCEP SVKSLCEGLE 
KAIFQLKSGT LPAPENIHNI VKTFYTWRNV AERTEKVYDR VSVEAVLPMD KRLDRLISHC 
GPVTGYIFAL LAVFNFLFLI FLRWMTPDSI IDVAIDATGP RGAWTNNYSH SKRGGENNEI 
SETR

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.