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Piga Gene Detail
Summary
  • Symbol
    Piga
  • Name
    phosphatidylinositol glycan anchor biosynthesis, class A
  • Synonyms
    phosphatidylinositolglycan class A, Pig-a
  • Feature Type
    protein coding gene
  • IDs
    MGI:99461
    NCBI Gene: 18700
  • Gene Overview
    MyGene.info: PIGA
Location & Maps
more
  • Sequence Map
    ChrX:164419787-164433916 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      14130 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome X, 76.49 cM, cytoband F3-F4
  • Mapping Data
    10 experiments
Homology
more
  • Human Ortholog
    PIGA, phosphatidylinositol glycan anchor biosynthesis class A
  • Vertebrate Orthologs
    10
  • Human Ortholog
    PIGA, phosphatidylinositol glycan anchor biosynthesis class A
    Orthology source: HGNC, HomoloGene
  • Synonyms
    GPI3, MCAHS2, PIG-A, PNH1
  • Links
    NCBI Gene ID: 5277
    neXtProt AC: NX_P37287

  • Chr Location
    Xp22.1; chrX:15319451-15335554 (-)  GRCh38.p2

Human Diseases
more
  • Diseases
    2 with human PIGA associations

Human Disease Mouse Models
       Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2; MCAHS2   OMIM: 300868
Paroxysmal Nocturnal Hemoglobinuria 1; PNH1   OMIM: 300818
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    34 phenotypes from 4 alleles in 5 genetic backgrounds
    1 images
    22 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    6
  • Gene trapped
    2
  • Targeted
    4
  • Incidental Mutations
Mutations produce lethal neural tube defects. Specific allele combinations are viable but oocytes are defective.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
Interactions
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Sequences &
Gene Models
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Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000019508 VEGA Gene Model | MGI Sequence Detail 14130 C57BL/6J ±  kb
transcript OTTMUST00000046585 VEGA | MGI Sequence Detail 3594 Not Applicable  
polypeptide OTTMUSP00000021037 VEGA | MGI Sequence Detail 485 Not Applicable  
For the selected sequence
Polymorphisms
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  • SNPs within 2kb
    107 from dbSNP Build 142
  • RFLP
Protein
Information
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  • UniProt
    12 Sequences
  • Protein Ontology
    PR:000027008 N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein
  • InterPro Domains
    IPR001296 Glycosyl transferase, family 1
    IPR013234 PIGA, GPI anchor biosynthesis
Molecular
Reagents
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  • All nucleic 23
    Genomic 9
    cDNA 14

    Microarray probesets 5
Other
Accession IDs
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MGD-MRK-16231, MGI:2147852
References
more
  • Summaries
    All 56
    Developmental Gene Expression 1
    Gene Ontology 3
    Phenotypes 22
  • Earliest
    J:26642 Takeda J, et al., Deficiency of the GPI anchor caused by a somatic mutation of the PIG-A gene in paroxysmal nocturnal hemoglobinuria. Cell. 1993 May 21;73(4):703-11
  • Latest
    J:178391 Hazenbos WL, et al., Impaired FcepsilonRI stability, signaling, and effector functions in murine mast cells lacking glycosylphosphatidylinositol-anchored proteins. Blood. 2011 Oct 20;118(16):4377-83

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
07/12/2016
MGI 6.04
The Jackson Laboratory