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 re... See more...

Aliases for PIGA Gene

Aliases for PIGA Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class A 2 3 5
  • Phosphatidylinositol N-Acetylglucosaminyltransferase Subunit A 3 4
  • EC 2.4.1.198 4 51
  • PIG-A 3 4
  • GPI3 2 3
  • Phosphatidylinositol Glycan, Class A (Paroxysmal Nocturnal Hemoglobinuria) 2
  • Phosphatidylinositol-Glycan Biosynthesis, Class A Protein 3
  • Phosphatidylinositol-Glycan Biosynthesis Class A Protein 4
  • Class A GlcNAc-Inositol Phospholipid Assembly Protein 3
  • Phosphatidylinositol N-Acetylglucosaminyltransferase 2
  • Paroxysmal Nocturnal Hemoglobinuria 2
  • GLCNAC-PI Synthesis Protein 3
  • GlcNAc-PI Synthesis Protein 4
  • GPI Anchor Biosynthesis 3
  • MCAHS2 3
  • PNH1 3
  • PIGA 5

External Ids for PIGA Gene

Previous GeneCards Identifiers for PIGA Gene

  • GC0XM014782
  • GC0XM014163
  • GC0XM014539
  • GC0XM014699
  • GC0XM015097
  • GC0XM015247
  • GC0XM013097
  • GC0XM015337

Summaries for PIGA Gene

Entrez Gene Summary for PIGA Gene

  • 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]

GeneCards Summary for PIGA Gene

PIGA (Phosphatidylinositol Glycan Anchor Biosynthesis Class A) is a Protein Coding gene. Diseases associated with PIGA include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 and Paroxysmal Nocturnal Hemoglobinuria 1. Among its related pathways are Metabolism of proteins and Metabolism. Gene Ontology (GO) annotations related to this gene include phosphatidylinositol N-acetylglucosaminyltransferase activity and UDP-glycosyltransferase activity. An important paralog of this gene is ALG11.

UniProtKB/Swiss-Prot Summary for PIGA Gene

  • Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.

Gene Wiki entry for PIGA Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGA Gene

Genomics for PIGA Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for PIGA Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH0XJ015333 Promoter/Enhancer 2.2 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 276 +0.2 213 2.9 TBP SP1 MXD4 NR2C1 MNT SMAD5 MBD2 BRCA1 BHLHE40 ELF1 PIGA lnc-ASB11-1 ASB11 ZRSR2 CA5B PIR MOSPD2 lnc-ASB11-2 HSALNG0136772
GH0XJ015748 Promoter/Enhancer 1.4 FANTOM5 Ensembl ENCODE dbSUPER 10.8 -416.6 -416612 6.8 FEZF1 KLF7 ZNF843 PRDM6 SPI1 ELF1 ATF2 POLR2A PRDM4 KLF1 CA5B ZRSR2 CA5BP1 PIGA CLTRN piR-57845-022 HSALNG0136791 CA5BP1-CA5B
GH0XJ015298 Enhancer 0.8 Ensembl ENCODE 12.6 +36.5 36539 2.8 CTCF GABPA SMC3 RAD21 SCRT1 ATF2 SP1 ARID3A HNF1A ATF7 HSALNG0136772 ASB9 PIGA ASB11
GH0XJ015356 Enhancer 0.7 Ensembl ENCODE 12.5 -21.1 -21147 1 CEBPB RXRA FOXA2 JUND FOXA1 RAD21 SP1 HNF4A HLF RBAK PIGA ASB11 BMX PIR ACE2 GS1-594A7.3 piR-41405-154 VEGFD HSALNG0136772 PIR-FIGF
GH0XJ015301 Enhancer 0.6 Ensembl ENCODE 12.4 +33.4 33353 1.6 MYC MAX HLF ZSCAN5C MGA PIGA ASB11 HSALNG0136772 ASB9
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGA on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGA

Top Transcription factor binding sites by QIAGEN in the PIGA gene promoter:
  • ATF-2
  • C/EBPalpha
  • CRE-BP1
  • CUTL1
  • Evi-1
  • Ik-2
  • Meis-1
  • Meis-1a
  • Meis-1b

Genomic Locations for PIGA Gene

Latest Assembly
chrX:15,319,451-15,335,554
(GRCh38/hg38)
Size:
16,104 bases
Orientation:
Minus strand

Previous Assembly
chrX:15,337,573-15,353,676
(GRCh37/hg19 by Entrez Gene)
Size:
16,104 bases
Orientation:
Minus strand

chrX:15,337,573-15,353,676
(GRCh37/hg19 by Ensembl)
Size:
16,104 bases
Orientation:
Minus strand

Genomic View for PIGA Gene

Genes around PIGA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGA Gene

Proteins for PIGA Gene

  • Protein details for PIGA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P37287-PIGA_HUMAN
    Recommended name:
    Phosphatidylinositol N-acetylglucosaminyltransferase subunit A
    Protein Accession:
    P37287
    Secondary Accessions:
    • B4E0V2
    • Q16025
    • Q16250

    Protein attributes for PIGA Gene

    Size:
    484 amino acids
    Molecular mass:
    54127 Da
    Quaternary structure:
    • Component of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex composed at least by PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815, PubMed:9463366). Interacts with PIGC, PIGH, PIGP, PIGQ and DPM2 (PubMed:16162815). Interacts directly with PIGY; this interaction regulates glycosylphosphatidylinositol-N-acetylglucosaminyltransferase activity (PubMed:16162815). Interacts with PIGQ (PubMed:9463366).

    Alternative splice isoforms for PIGA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGA Gene

Selected DME Specific Peptides for PIGA Gene

P37287:
  • VGGIPEVLP
  • TVFTDHSL

Post-translational modifications for PIGA Gene

  • Glycosylation at Asn467
  • Modification sites at PhosphoSitePlus

Domains & Families for PIGA Gene

Gene Families for PIGA Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PIGA Gene

InterPro:
Blocks:
  • Glycosyl transferase, group 1
ProtoNet:

Suggested Antigen Peptide Sequences for PIGA Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ40728 fis, clone TKIDN2000240, highly similar to Phosphatidylinositol N-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (B3KUV7_HUMAN)
  • cDNA FLJ54823, highly similar to PhosphatidylinositolN-acetylglucosaminyltransferase subunit A (EC 2.4.1.198) (B4E0V2_HUMAN)
  • Phosphatidylinositol-glycan biosynthesis class A protein (PIGA_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P37287

UniProtKB/Swiss-Prot:

PIGA_HUMAN :
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
Family:
  • Belongs to the glycosyltransferase group 1 family. Glycosyltransferase 4 subfamily.
genes like me logo Genes that share domains with PIGA: view

Function for PIGA Gene

Molecular function for PIGA Gene

UniProtKB/Swiss-Prot Function:
Catalytic subunit of the glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to phosphatidylinositol and participates in the first step of GPI biosynthesis.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + UDP-N-acetyl-alpha-D-glucosamine = a 6-(N-acetyl-alpha-D-glucosaminyl)-1-phosphatidyl-1D-myo-inositol + H(+) + UDP; Xref=Rhea:RHEA:14789, ChEBI:CHEBI:15378, ChEBI:CHEBI:57265, ChEBI:CHEBI:57705, ChEBI:CHEBI:57880, ChEBI:CHEBI:58223; EC=2.4.1.198; Evidence={ECO:0000305|PubMed:16162815};.
GENATLAS Biochemistry:
glycosyl-phosphatidylinositol (GPI),54kDa,anchor synthesis,class A,putatively involved in apoptosis regulation

Enzyme Numbers (IUBMB) for PIGA Gene

Gene Ontology (GO) - Molecular Function for PIGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005515 protein binding IPI 16162815
GO:0008194 UDP-glycosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
GO:0017176 phosphatidylinositol N-acetylglucosaminyltransferase activity IBA,TAS 16162815
genes like me logo Genes that share ontologies with PIGA: view
genes like me logo Genes that share phenotypes with PIGA: view

Human Phenotype Ontology for PIGA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for PIGA Gene

MGI Knock Outs for PIGA:

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGA

No data available for Phenotypes From GWAS Catalog , Transcription Factor Targets and HOMER Transcription for PIGA Gene

Localization for PIGA Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGA Gene

Endoplasmic reticulum membrane. Single-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGA gene
Compartment Confidence
plasma membrane 2
extracellular 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
endosome 2
cytosol 2
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000506 glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex IBA,IDA 16162815
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IDA,TAS --
GO:0016020 membrane IEA,HDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGA: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGA Gene

Pathways & Interactions for PIGA Gene

genes like me logo Genes that share pathways with PIGA: view

UniProtKB/Swiss-Prot P37287-PIGA_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA,TAS 16162815
GO:0009893 positive regulation of metabolic process TAS 16162815
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:1990830 cellular response to leukemia inhibitory factor IEA --
genes like me logo Genes that share ontologies with PIGA: view

No data available for SIGNOR curated interactions for PIGA Gene

Drugs & Compounds for PIGA Gene

(10) Drugs for PIGA Gene - From: HMDB and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ceramide NG Experimental Pharma 0
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
Uridine 5'-diphosphate Experimental Pharma 0
sphinganine Pharma 0

(893) Additional Compounds for PIGA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-Dehydro-D-sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-Amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3-O-Sulphogalactosylceramide (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
244215-65-4
genes like me logo Genes that share compounds with PIGA: view

Transcripts for PIGA Gene

mRNA/cDNA for PIGA Gene

3 REFSEQ mRNAs :
54 NCBI additional mRNA sequence :
19 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGA

Alternative Splicing Database (ASD) splice patterns (SP) for PIGA Gene

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4 ^ 5a · 5b ^ 6a · 6b
SP1: - - - -
SP2: - -
SP3: - - -
SP4: - - - -
SP5: -
SP6: - - -

Relevant External Links for PIGA Gene

GeneLoc Exon Structure for
PIGA

Expression for PIGA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIGA Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGA Gene

This gene is overexpressed in Serum (55.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for PIGA Gene



Protein tissue co-expression partners for PIGA Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGA

SOURCE GeneReport for Unigene cluster for PIGA Gene:

Hs.137154

Evidence on tissue expression from TISSUES for PIGA Gene

  • Nervous system(4.5)
  • Bone marrow(2.8)
  • Blood(2.6)
  • Intestine(2.4)
  • Kidney(2.1)
  • Liver(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • meninges
  • mouth
  • neck
  • nose
  • olfactory bulb
  • outer ear
  • pharynx
  • skull
  • tooth
Thorax:
  • chest wall
  • diaphragm
  • esophagus
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • abdominal wall
  • intestine
  • large intestine
  • small intestine
  • stomach
Pelvis:
  • pelvis
  • rectum
Limb:
  • ankle
  • digit
  • elbow
  • finger
  • foot
  • hand
  • hip
  • knee
  • lower limb
  • nail
  • shoulder
  • toe
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • spinal cord
  • vertebrae
  • white blood cell
genes like me logo Genes that share expression patterns with PIGA: view

Primer products for research

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGA Gene

Orthologs for PIGA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGA Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia PIGA 30 31
  • 99.79 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia PIGA 30 31
  • 91.8 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia PIGA 30 31
  • 91.67 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia PIGA 31
  • 89 (a)
OneToOne
Mouse
(Mus musculus)
Mammalia Piga 30 17 31
  • 87.81 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Piga 30
  • 85.75 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia PIGA 31
  • 84 (a)
OneToOne
Chicken
(Gallus gallus)
Aves PIGA 30 31
  • 78.68 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia PIGA 31
  • 81 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia piga 30
  • 74.27 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.16573 30
Zebrafish
(Danio rerio)
Actinopterygii piga 30 31
  • 69.88 (n)
OneToOne
zgc56589 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP011274 30
  • 60.16 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG6401 30 31 32
  • 56.17 (n)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea piga-1 30 31
  • 56.6 (n)
OneToOne
D2085.6 32
  • 52 (a)
K. Lactis Yeast
(Kluyveromyces lactis)
Saccharomycetes KLLA0C09713g 30
  • 55.16 (n)
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes SPT14 30 31 33
  • 53.38 (n)
OneToOne
A. gosspyii yeast
(Eremothecium gossypii)
Saccharomycetes AGOS_AAL108C 30
  • 51.4 (n)
Thale Cress
(Arabidopsis thaliana)
eudicotyledons SETH2 30
  • 57.29 (n)
Barley
(Hordeum vulgare)
Liliopsida Hv.4393 30
Wheat
(Triticum aestivum)
Liliopsida Ta.10118 30
Fission Yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi3 30
  • 56.54 (n)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 54 (a)
OneToOne
Bread mold
(Neurospora crassa)
Ascomycetes NCU09757 30
  • 51.93 (n)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.5861 30
Species where no ortholog for PIGA was found in the sources mined by GeneCards:
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)

Evolution for PIGA Gene

ENSEMBL:
Gene Tree for PIGA (if available)
TreeFam:
Gene Tree for PIGA (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIGA: view image

Paralogs for PIGA Gene

Paralogs for PIGA Gene

Pseudogenes.org Pseudogenes for PIGA Gene

genes like me logo Genes that share paralogs with PIGA: view

Variants for PIGA Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGA Gene

SNP ID Clinical significance and condition Chr 0X pos Variation AA Info Type
813740 Likely Pathogenic: Multiple congenital anomalies-hypotonia-seizures syndrome 2 15,331,575(-) C/T
NM_002641.4(PIGA):c.356G>A (p.Arg119Gln)
MISSENSE_VARIANT,INTRON
833890 Benign: Multiple congenital anomalies-hypotonia-seizures syndrome 2 15,324,807(-) T/C
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
838031 Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 2 15,324,669(-) T/C
NM_002641.4(PIGA):c.1184A>G (p.Glu395Gly)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
840437 Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 2 15,325,979(-) A/C
NM_002641.4(PIGA):c.783T>G (p.Ile261Met)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
849830 Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 2 15,331,631(-) C/A
NM_002641.4(PIGA):c.300G>T (p.Gln100His)
MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIGA Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for PIGA Gene

Variant ID Type Subtype PubMed ID
esv3573603 CNV loss 25503493
nsv517938 CNV gain 19592680
nsv522729 CNV gain 19592680
nsv528343 CNV gain 19592680

Variation tolerance for PIGA Gene

Residual Variation Intolerance Score: 19.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.87; 35.06% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGA Gene

Human Gene Mutation Database (HGMD)
PIGA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGA

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGA Gene

Disorders for PIGA Gene

MalaCards: The human disease database

(21) MalaCards diseases for PIGA Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
multiple congenital anomalies-hypotonia-seizures syndrome 2
  • mcahs2
paroxysmal nocturnal hemoglobinuria 1
  • pnh1
paroxysmal nocturnal hemoglobinuria
  • marchiafava-micheli disease
ferro-cerebro-cutaneous syndrome
  • cerebro-cutaneous syndrome with iron overload
west syndrome
  • epileptic encephalopathy, early infantile, 1
- elite association - COSMIC cancer census association via MalaCards
Search PIGA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGA_HUMAN
  • Paroxysmal nocturnal hemoglobinuria 1 (PNH1) [MIM:300818]: A disorder characterized by hemolytic anemia with hemoglobinuria, thromboses in large vessels, and a deficiency in hematopoiesis. Red blood cell breakdown with release of hemoglobin into the urine is manifested most prominently by dark-colored urine in the morning. {ECO:0000269 PubMed:10087994, ECO:0000269 PubMed:12037021, ECO:0000269 PubMed:8167330, ECO:0000269 PubMed:8306954, ECO:0000269 PubMed:8500164}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry.
  • Multiple congenital anomalies-hypotonia-seizures syndrome 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. {ECO:0000269 PubMed:22305531, ECO:0000269 PubMed:24259184, ECO:0000269 PubMed:24259288, ECO:0000269 PubMed:24706016, ECO:0000269 PubMed:26993267}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PIGA

Genetic Association Database
(GAD)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
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No data available for Genatlas for PIGA Gene

Publications for PIGA Gene

  1. Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. (PMID: 8500164) Takeda J … Kinoshita T (Cell 1993) 2 3 4 23 74
  2. PIGA mutations cause early-onset epileptic encephalopathies and distinctive features. (PMID: 24706016) Kato M … Matsumoto N (Neurology 2014) 3 4 74
  3. The spectrum of somatic mutations in the PIG-A gene in paroxysmal nocturnal hemoglobinuria includes large deletions and small duplications. (PMID: 10087994) Nafa K … Luzzatto L (Blood cells, molecules & diseases 1998) 3 4 23
  4. Mutations within the Piga gene in patients with paroxysmal nocturnal hemoglobinuria. (PMID: 8167330) Ware RE … Howard TA (Blood 1994) 3 4 23
  5. Characterization of genomic PIG-A gene: a gene for glycosylphosphatidylinositol-anchor biosynthesis and paroxysmal nocturnal hemoglobinuria. (PMID: 8193350) Iida Y … Kinoshita T (Blood 1994) 3 4 23

Products for PIGA Gene

Sources for PIGA Gene