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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PIGA Gene

protein-coding   GIFtS: 64
GCID: GC0XM015337

phosphatidylinositol glycan anchor biosynthesis, class A

(Previous names: phosphatidylinositol glycan, class A (paroxysmal nocturnal...)
 Explore 27 diseases affiliated with
PIGA via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for PIGA    

Aliases
for PIGA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class A1 2     MCAHS22
GPI31 2     Class A GlcNAc-Inositol Phospholipid Assembly Protein2
GlcNAc-PI Synthesis Protein2 3     GPI Anchor Biosynthesis2
PIG-A2 3     Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A2
EC 2.4.1.1983 8     Phosphatidylinositol-Glycan Biosynthesis, Class A Protein2
Phosphatidylinositol Glycan, Class A (Paroxysmal Nocturnal Hemoglobinuria)1     Phosphatidylinositol-Glycan Biosynthesis Class A Protein3

External Ids:    HGNC: 89571   Entrez Gene: 52772   Ensembl: ENSG000001651957   OMIM: 3117705   UniProtKB: P372873   
ORGUL members:         
NONCODE:n409451 n409450    

Export aliases for PIGA gene to outside databases

Previous GC identifers: GC0XM014782 GC0XM014163 GC0XM014539 GC0XM014699 GC0XM015097 GC0XM015247 GC0XM013097


Summaries
for PIGA gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for PIGA:
This gene encodes a protein required for synthesis of N-acetylglucosaminyl phosphatidylinositol (GlcNAc-PI), the first
intermediate in the biosynthetic pathway of GPI anchor. The GPI anchor is a glycolipid found on many blood cells and
which serves to anchor proteins to the cell surface. Paroxysmal nocturnal hemoglobinuria, an acquired hematologic
disorder, has been shown to result from mutations in this gene. Alternate splice variants have been characterized. A
related pseudogene is located on chromosome 12. (provided by RefSeq, Jun 2010)

UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
Function: Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in
GPI-anchor biosynthesis

Gene Wiki entry for PIGA


Genomic Views
for PIGA gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000023.10  NC_018934.1  NT_167197.1  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the PIGA gene promoter:
         ATF-2   CUTL1   Evi-1   Meis-1b   C/EBPalpha   CRE-BP1   Ik-2   Meis-1a   Meis-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: PIGA promoter sequence
   Search SABiosciences Chromatin IP Primers for PIGA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat PIGA


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: Xp22.1   Ensembl cytogenetic band:  Xp22.2   HGNC cytogenetic band: Xp22.1

PIGA Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PIGA gene location

GeneLoc information about chromosome X         GeneLoc Exon Structure

GeneLoc location for GC0XM015337:  view genomic region     (about GC identifiers)

Start:
 15,337,573 bp from pter      End:
 15,353,676 bp from pter
Size:
 16,104 bases      Orientation:
 minus strand

Proteins
for PIGA gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287 (See protein sequence)
Recommended Name: Phosphatidylinositol N-acetylglucosaminyltransferase subunit A  
Size: 484 amino acids; 54127 Da
Subunit: Associates with PIGC, PIGH, PIGP, PIGQ and DPM2. The latter is not essential for activity. Interacts directly
with PIGY
Subcellular location: Endoplasmic reticulum membrane; Single-pass membrane protein
Secondary accessions: B4E0V2 Q16025 Q16250
Alternative splicing: 3 isoforms:  P37287-1   P37287-2   P37287-3   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIGA: NX_P37287

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P37287

    • 2 DME Specific Peptides for PIGA (P37287)
     TVFTDHSL  VGGIPEVLP 

    PIGA Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    REFSEQ proteins (2 alternative transcripts): 
    NP_002632.1  NP_065206.3  

    ENSEMBL proteins: 
     ENSP00000369820   ENSP00000442653   ENSP00000416102  
    Reactome Protein details: P37287
    Human Recombinant Protein Products: 
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    Uscn Proteins for PIGA

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000506glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IDA16162815
    GO:0005789endoplasmic reticulum membrane TAS--
    GO:0016021integral to membrane IEA--


    PIGA for ontologies           About GeneDecksing



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    Uscn ELISAs and CLIAs for PIGA

    Protein Domains /
    Families
    for PIGA gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    PIGA for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR013234 PIGA_GPI_anchor_biosynthesis
     IPR001296 Glyco_trans_1

    Graphical View of Domain Structure for InterPro Entry P37287

    ProtoNet protein and cluster: P37287

    1 Blocks protein family: IPB001296 Glycosyl transferase

    UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
    Similarity: Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily


    Function
    for PIGA gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
    Function: Necessary for the synthesis of N-acetylglucosaminyl-phosphatidylinositol, the very early intermediate in
    GPI-anchor biosynthesis
    Catalytic activity: UDP-N-acetyl-D-glucosamine + 1-phosphatidyl-1D-myo-inositol = UDP +
    6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol

         Genatlas biochemistry entry for PIGA:
    glycosyl-phosphatidylinositol (GPI),54kDa,anchor synthesis,class A,putatively involved in apoptosis regulation

    Enzyme Number (IUBMB): EC 2.4.1.1981 2

    miRNA
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    hsa-miR-361-5p hsa-miR-520e hsa-miR-30d hsa-miR-519a hsa-miR-1273d hsa-miR-30a hsa-miR-3170 hsa-miR-510
    SwitchGear 3'UTR luciferase reporter plasmid: PIGA 3' UTR sequence
    Inhib. RNA
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    Gene Editing
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    Clone
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    In Situ Assay
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    Gene Ontology (GO): 4 molecular function terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005515protein binding IPI16162815
    GO:0008194UDP-glycosyltransferase activity TAS--
    GO:0016757transferase activity, transferring glycosyl groups ----
    GO:0017176phosphatidylinositol N-acetylglucosaminyltransferase activity TAS16162815


    PIGA for ontologies           About GeneDecksing


    Animal Models:
         Mouse knock-outs for PIGA: Pigatm1.1Tak Pigatm2Tak
         13 MGI mutant phenotypes (inferred from 4 alleles) (MGI details for Piga):
     behavior/neurological  cellular  craniofacial  digestive/alimentary  embryogenesis 
     growth/size  hematopoietic system  integument  mortality/aging  nervous system 
     reproductive system  skeleton  tumorigenesis 

    PIGA for phenotypes           About GeneDecksing


    Pathways & Interactions
    for PIGA gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Post-translational modification: synthesis of GPI-anchored proteins
    		Post-translational modification: synthesis of GPI-anchored proteins1.00
    		Synthesis of glycosylphosphatidylinositol (GPI)0.64
    		Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.79
    2Asparagine N-linked glycosylation
    		Post-translational protein modification0.44
    		Metabolism of proteins0.15
    3Metabolism
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    Show all pathways


    4        Reactome Pathways for PIGA
        Metabolism of proteins
    Post-translational modification: synthesis of GPI-anchored proteins
    Post-translational protein modification
    Synthesis of glycosylphosphatidylinositol (GPI)


    2         Kegg Pathways  (Kegg details for PIGA):
        Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
    Metabolic pathways

    UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis


    PIGA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for PIGA

    STRING Interaction Network Preview (showing 5 interactants - click image to see 10)

    5/19 Interacting proteins for PIGA (P372873 ENSP000003698204) via UniProtKB, MINT, STRING, and/or I2D (see all 19)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIGQQ9BRB33, ENSP000000262184I2D: score=3 STRING: ENSP00000026218
    PYURFQ96I233, ENSP000002739684I2D: score=1 STRING: ENSP00000273968
    PIGHQ144423, ENSP000002164524I2D: score=3 STRING: ENSP00000216452
    DPM2O947773, ENSP000003221814I2D: score=2 STRING: ENSP00000322181
    PIGPP570543, ENSP000004200374I2D: score=1 STRING: ENSP00000420037
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006501C-terminal protein lipidation TAS--
    GO:0006506GPI anchor biosynthetic process TAS16162815
    GO:0009893positive regulation of metabolic process TAS16162815
    GO:0016254preassembly of GPI anchor in ER membrane TAS--
    GO:0043687post-translational protein modification TAS--


    PIGA for ontologies           About GeneDecksing



    Drugs & Compounds
    for PIGA gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    PIGA for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
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    Browse Tocris compounds for PIGA

    10/901 HMDB Compounds for PIGA (see all 901)    About this table
    CompoundSynonyms CAS #PubMed Ids
    3-Dehydrosphinganine1-Hydroxy-2-amino-3-oxo-octadecane (see all 9)16105-69-4--
    3-O-Sulfogalactosylceramide (d18:1/12:0)Sulfatide (d18:1/12:0) (see all 13)852100-88-0--
    3-O-Sulfogalactosylceramide (d18:1/14:0)Sulfatide (d18:1/14:0) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/16:0)Sulfatide (d18:1/16:0) (see all 13)862509-48-6--
    3-O-Sulfogalactosylceramide (d18:1/18:0)Sulfatide (d18:1/18:0) (see all 13)244215-65-4--
    3-O-Sulfogalactosylceramide (d18:1/18:1(9Z))Sulfatide (d18:1/18:1(9Z)) (see all 13)----
    3-O-Sulfogalactosylceramide (d18:1/20:0)Sulfatide (d18:1/20:0) (see all 13)265096-81-9--
    3-O-Sulfogalactosylceramide (d18:1/22:0)Sulfatide (d18:1/22:0) (see all 13)265096-83-1--
    3-O-Sulfogalactosylceramide (d18:1/24:0)Sulfatide (d18:1/24:0) (see all 16)151122-71-3--
    3-O-Sulfogalactosylceramide (d18:1/24:1(15Z))Sulfatide (d18:1/24:1(15Z)) (see all 13)151057-28-2--
    7 Novoseek chemical compound relationships for PIGA gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    aerolysin 78.8 3 15687243 (2), 11212264 (1)
    n-acetylglucosamine 56 3 8806613 (1), 8647522 (1), 18522757 (1)
    udp-n-acetylglucosamine 52.8 2 8806613 (1), 18522757 (1)
    alemtuzumab 46.9 3 10520035 (1)
    phosphatidylinositol 39.7 3 8806613 (1), 8900170 (1), 18522757 (1)
    methylcellulose 21.6 1 15687243 (1)
    cyclophosphamide 0 1 12614228 (1)

    Search CenterWatch for drugs/clinical trials and news about PIGA 

    Transcripts
    for PIGA gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    REFSEQ mRNAs for PIGA gene (3 alternative transcripts): 
    NM_002641.3  NM_020473.3  NM_020472.1  

    Unigene Cluster for PIGA:

    Phosphatidylinositol glycan anchor biosynthesis, class A
    Hs.137154  [show with all ESTs]
    Unigene Representative Sequence: NM_002641
    7 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000333590(uc010nev.3 uc004cwr.3 uc004cwq.3) ENST00000482148
    ENST00000475746 ENST00000463173 ENST00000474662 ENST00000542278(uc010neu.3 uc011miq.2)
    ENST00000428964(uc004cws.3)

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    hsa-miR-361-5p hsa-miR-520e hsa-miR-30d hsa-miR-519a hsa-miR-1273d hsa-miR-30a hsa-miR-3170 hsa-miR-510
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    Inhib. RNA
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    Clone
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    Additional cDNA sequence: 

    AK098047.1 AK290497.1 AK303538.1 AK315063.1 BC038236.1 D11466.1 NR_033835.1 NR_033836.1 
    S61523.1 S74936.1 

    6 DOTS entries:

    DT.95366694  DT.213216  DT.99982419  DT.102823086  DT.121309992  DT.92422332 

    24/76 AceView cDNA sequences (see all 76):

    BX113864 CF994958 AI417807 BM725982 D11466 NM_020473 CB989816 AU098475 
    NM_020472 AU136655 NM_002641 BQ026278 CB157876 CF138539 BC038236 CB989512 
    CB243615 N33325 AK098047 AU127618 T17371 AU139488 AW079310 CF994116 

    GeneLoc Exon Structure

    5/6 Alternative Splicing Database (ASD) splice patterns (SP) for PIGA (see all 6)    About this scheme

    ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b
    SP1:        -     -     -           -                                 
    SP2:                    -           -                                 
    SP3:              -     -           -                                 
    SP4:              -     -     -     -                                 
    SP5:                                -                                 


    ECgene alternative splicing isoforms for PIGA

    Expression
    for PIGA gene

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    PIGA expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: TCCAAAAATA

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    PIGA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    1 LifeMap In Vivo Development Anatomical Compartment/Cell 
    Tissue Anatomical Compartment CellCategory (developmental path)
    TestisSeminiferous TubulesSpermatidGerm Cells, Male Gametocytes
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See PIGA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIGA

    SOURCE GeneReport for Unigene cluster: Hs.137154
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    In Situ
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    Orthologs
    for PIGA gene

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section
    This gene was present in the last universal common ancestor (LUCA).

    Orthologs for PIGA gene from 11/39 species (see all 39)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    mouse
    (Mus musculus)    		 Mammalia Piga1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 87.81(n)1
    87.81(a)1    		   X (76.49 cM)5
    187001  NM_011081.21  NP_035211.21 
     1644197935 
    chicken
    (Gallus gallus)    		 Aves PIGA1 phosphatidylinositol glycan anchor biosynthesis, class more 78.68(n)
    89.41(a)    		   418624  NM_001030808.1  NP_001025979.1 
    lizard
    (Anolis carolinensis)    		 Reptilia PIGA6
    		 --
    		 81(a)
    		 1 ↔ 1
    		 6(53511147-53523154)
    African clawed frog
    (Xenopus laevis)    		 Amphibia Xl.165732 Xenopus laevis transcribed sequence with strong similarity more 77.67(n)    BU913078.1 
    zebrafish
    (Danio rerio)    		 Actinopterygii zgc565892 similar to phosphatidylinositol glycan, class A (paroxysmal more 76.91(n)   393921  BC049334.1 
    fruit fly
    (Drosophila melanogaster)    		 Insecta CG64011 , 3 phosphatidylinositol
    N-acetylglucosaminyltransferase3
    CG64011    		 64(a)3
    56.01(n)1
    55.77(a)1    		   370201  NM_137413.11  NP_611257.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea D2085.63
    piga-11    		 phosphatidylinositol biosynthetic protein3
    Protein PIGA-11    		 52(a)3
    56.6(n)1
    54.33(a)1    		   II(8659798-8661511)3
    1743861  NM_063439.51  NP_495840.11 
    baker's yeast
    (Saccharomyces cerevisiae)    		 Saccharomycetes SPT14(YPL175W)4
    SPT141    		 UDP-GlcNAc-binding and catalytic subunit of the enzyme more4
    Spt14p1    		 53.1(n)1
    46.67(a)1    		   16(218630-220088)4
    8559281, 4  NP_015150.21, 4 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons SETH21 phosphatidylinositol glycan, class A 57.29(n)
    55.05(a)    		   823646  NM_114379.3  NP_566874.1 
    rice
    (Oryza sativa)    		 Liliopsida --
    		 glycosyl transferase, group 1 domain containing pr...
    		 49(a)
    		 1 ↔ 1
    		 7(9975525-9979350)


    ENSEMBL Gene Tree for PIGA (if available)
    TreeFam Gene Tree for PIGA (if available) 

    Paralogs
    for PIGA gene

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for PIGA gene

    PIGA for paralogs           About GeneDecksing


    1 Pseudogenes.org Pseudogene for PIGA
    PGOHUM00000239904


    Genomic Variants
    for PIGA gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/222 NCBI SNPs in PIGA are shown (see all 222)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr X posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1994222321,2
    		Cpathogenic15349759(-) ATGTAA/CAACCA 5 * Y nc-transcript-variantstg1 int10--------
    rs1994222331,2
    		Cpathogenic15349890(-) TTTACC/TAGCTC 5 Q * int1 stg10--------
    rs1389547221,2
    		--15337110(+) CTCCGC/TCTCAA 4 -- ds50010--------
    rs59342351,2
    		A--15337121(+) aaataT/Aataaa 4 -- ds50012Minor allele frequency- A:0.00NA 4
    rs66323141,2
    		C,H,--15337144(+) AATACA/CCTAAT 4 -- ds50016Minor allele frequency- C:0.10WA NA CSA 10
    rs59359511,2
    		A--15337168(+) aaaaaA/Gaaaga 4 -- ds50011Minor allele frequency- G:0.00NA 2
    rs66536091,2
    		C--15337172(+) aaaaaG/Aaaaga 4 -- ds50011Minor allele frequency- A:0.50WA 2
    rs610672131,2
    		C--15337191(+) AGAAA-/GAAA  
                ATCAC     		4 -- ds50010--------
    rs1861228311,2
    		--15337208(+) CATAAC/TGTTTT 4 -- ds50010--------
    rs1918032421,2
    		--15337302(+) CCTTGC/TCTCAC 4 -- ds50010--------

    HapMap Linkage Disequilibrium report for PIGA (15337573 - 15353676 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 1 variation for PIGA
         1 CNV: 96490
    Human Gene Mutation Database (HGMD): PIGA

    Locus Specific Mutation Databases (LSDB): PIGA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing PIGA
    DNA2.0 Custom Variant and Variant Library Synthesis for PIGA

    Disorders / Diseases
    for PIGA gene

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    PIGA for disorders           About GeneDecksing

    OMIM gene information: 311770   
    OMIM disorders: 300818  
    UniProtKB/Swiss-Prot: PIGA_HUMAN, P37287
  • Defects in PIGA are the cause of paroxysmal nocturnal hemoglobinuria (PNH) [MIM:300818]. PNH is a disorder
    • characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis.
    Clinical manifestation of red blood cell breakdown with release of hemoglobin into the urine is manifested most
    prominently by dark-colored urine in the morning
  • Defects in PIGA are the cause of multiple congenital anomalies-hypotonia-seizures syndrome type 2 (MCAHS2)
    • [MIM:300868]. An X-linked recessive developmental disorder characterized by dysmorphic features, neonatal hypotonia,
    myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems.
    Most affected individuals die in infancy

    20/27 diseases for PIGA (see all 27):    About MalaCards
    paroxysmal nocturnal hemoglobinuria    hemoglobinuria    paroxysmal nocturnal hemoglobinuria, somatic    glycosylphosphatidylinositol deficiency
    plasma cell neoplasm    autoimmune hemolytic anemia    hepatic vein thrombosis    hemolytic anemia
    retinal vascular occlusion    x inactivation    splenic infarction    hemosiderosis
    aplastic anemia    anemia    myelodysplastic syndrome    protein s deficiency
    thrombosis    burkitt's lymphoma    pancytopenia    thrombophilia

    8 diseases from the University of Copenhagen DISEASES database for PIGA:
    Anemia     Bone marrow disease     Hepatic vein thrombosis     Proteinuria
    Autoimmune hemolytic anemia     Leukemia     Thrombocytopenia     Hemosiderosis

    10/19 Novoseek disease relationships for PIGA gene (see all 19)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    paroxysmal hemoglobinuria nocturnal 98.2 105 8541557 (3), 10389589 (2), 9129055 (2), 16923549 (2) (see all 87)
    hemolysis intravascular 92.2 2 16940417 (1), 11372757 (1)
    anemia hemolytic acquired 91.1 3 19074066 (1), 8541557 (1), 11301179 (1)
    somatic mutations 90.9 109 10087994 (3), 8500164 (3), 7655005 (3), 7986731 (2) (see all 86)
    anemia aplastic 86.6 18 10233427 (2), 16467865 (2), 8619404 (1), 11750098 (1) (see all 15)
    hemoglobinuria 84.2 1 11372733 (1)
    hemolysis 72.9 3 19569576 (1), 12627846 (1), 11756148 (1)
    anemia hemolytic 72 1 17124035 (1)
    cytopenia 64.6 1 14584753 (1)
    hematologic disorders 63.2 4 10389589 (1), 7543308 (1), 7485098 (1), 9238050 (1)

    Genetic Association Database (GAD): PIGA

    Export disorders for PIGA gene to outside databases

    Publications
    for PIGA gene

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for PIGA gene, integrated from 9 sources (see all 196):
    (articles sorted by number of sources associating them with PIGA)    		    Utopia: connect your pdf to the dynamic
    world of online information

    1. Deficiency of the GPI anchor caused by a somatic mutation of the PIG- A gene in paroxysmal nocturnal hemoglobinuria. (PubMed id 8500164)1, 2, 3, 9 Takeda J.... Kinoshita T. (1993)
    2. 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)1, 2, 9 Bessler M.... Mason P.J. (1994)
    3. The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. (PubMed id 10087994)1, 2, 9 Nafa K.... Luzzatto L. (1998)
    4. Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. (PubMed id 8193350)1, 2, 9 Iida Y.... Kinoshita T. (1994)
    5. Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. (PubMed id 8167330)1, 2, 9 Ware R.E.... Howard T.A. (1994)
    6. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene. (PubMed id 8306954)1, 2, 9 Bessler M.... Kinoshita T. (1994)
    7. The cloning of PIG-A, a component in the early step of GPI-anchor biosynthesis. (PubMed id 7680492)1, 2, 9 Miyata T.... Kinoshita T. (1993)
    8. The phenotype of a germline mutation in PIGA: the gene somatically mutated in paroxysmal nocturnal hemoglobinuria. (PubMed id 22305531)1, 2 Johnston J.J.... Biesecker L.G. (2012)
    9. The initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-Y, a seventh component. (PubMed id 16162815)1, 2 Murakami Y....Kinoshita T. (2005)
    10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (2004)

    External Searches for PIGA gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
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    Genome Databases showing PIGA gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 5277 HGNC: 8957 AceView: PIGA Ensembl:ENSG00000165195 euGenes: HUgn5277
    ECgene: PIGA Kegg: 5277 H-InvDB: PIGA

    Other Databases showing PIGA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing PIGA gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for PIGA Pharmacogenomics, SNPs, Pathways
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_555

    Intellectual Property
    for PIGA gene

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    		Patent Information for PIGA gene:
    Search GeneIP for patents involving PIGA

    GeneCards and IP:
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