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Aliases for PIGO Gene

Aliases for PIGO Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class O 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class O Protein 3 4
  • GPI Ethanolamine Phosphate Transferase 3 3
  • Phosphatidylinositol Glycan, Class O 2
  • EC 2.-.-.- 4
  • HPMRS2 3
  • PIG-O 4

External Ids for PIGO Gene

Previous GeneCards Identifiers for PIGO Gene

  • GC09M035400
  • GC09M035258
  • GC00U912968
  • GC09M035079
  • GC09M035080
  • GC09M035081

Summaries for PIGO Gene

Entrez Gene Summary for PIGO Gene

  • This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This protein is involved in the transfer of ethanolaminephosphate (EtNP) to the third mannose in GPI. At least three alternatively spliced transcripts encoding two distinct isoforms have been found for this gene. [provided by RefSeq, Jan 2011]

GeneCards Summary for PIGO Gene

PIGO (Phosphatidylinositol Glycan Anchor Biosynthesis Class O) is a Protein Coding gene. Diseases associated with PIGO include Hyperphosphatasia With Mental Retardation Syndrome 2 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. GO annotations related to this gene include transferase activity and sulfuric ester hydrolase activity.

UniProtKB/Swiss-Prot for PIGO Gene

  • Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond (By similarity).

No data available for Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for PIGO Gene

Genomics for PIGO Gene

Regulatory Elements for PIGO Gene

Enhancers for PIGO Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH09F034162 0.2 ENCODE 64.2 +933.7 933744 0.2 ZNF493 RFX5 ZNF138 FOS ZNF202 ZNF680 ZBTB11 CEBPB REST ZNF518A PIGO ENSG00000228352 FANCG B4GALT1 IMPDH1P1 DCAF12 FAM205A CCL21 SNORD121A GC09P034242
GH09F035101 0.4 ENCODE 24.6 -6.6 -6611 3.1 HDGF PKNOX1 ARNT CREB3L1 WRNIP1 ZFP64 ARID4B SIN3A DMAP1 ZNF2 PIGO CREB3 CCL21 RECK FANCG VCP ENSG00000230074 SPAG8 STOML2 FAM214B
GH09F035487 1.2 FANTOM5 ENCODE 18 -393.9 -393894 5.5 PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF766 SP3 NFYC PIGO FANCG CCL21 FAM214B FAM166B HMGB3P24 UNC13B GBA2 RUSC2 OR13J1
GH09F035656 1 ENCODE 17.8 -564.4 -564365 9.9 MLX CREB3L1 ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF263 SP3 C9orf131 RGP1 PIGO ARHGEF39 RN7SL22P YBX1P10 CCDC107 CA9 TPM2 CD72
GH09F034157 0.8 Ensembl ENCODE 16.5 +937.9 937874 1.6 ATF1 PKNOX1 ZNF48 ZNF2 ZNF121 FOS SP3 SP5 ZNF623 ZNF264 ENSG00000228352 PIGO B4GALT1 IMPDH1P1 DCAF12 CCL21 UBAP1 GC09P034242 PIR62533
- Elite enhancer/Elite enhancer-gene association Download Table
Download GeneHancer data dump

Enhancers around PIGO on UCSC Golden Path with GeneCards custom track

Promoters for PIGO Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001302753 301 1401 HDGF PKNOX1 CREB3L1 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF207 ZNF143

Genomic Location for PIGO Gene

Chromosome:
9
Start:
35,088,688 bp from pter
End:
35,096,601 bp from pter
Size:
7,914 bases
Orientation:
Minus strand

Genomic View for PIGO Gene

Genes around PIGO on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGO Gene

Proteins for PIGO Gene

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

    Protein Symbol:
    Q8TEQ8-PIGO_HUMAN
    Recommended name:
    GPI ethanolamine phosphate transferase 3
    Protein Accession:
    Q8TEQ8
    Secondary Accessions:
    • B1AML3
    • Q6P154
    • Q6UX80
    • Q8TDS8
    • Q96CS9
    • Q9BVN9
    • Q9Y4B0

    Protein attributes for PIGO Gene

    Size:
    1089 amino acids
    Molecular mass:
    118699 Da
    Quaternary structure:
    • Forms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity).
    SequenceCaution:
    • Sequence=AAC07985.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=AAH01030.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=AAH13987.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB84890.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=BAC03414.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305}; Sequence=CAD38806.1; Type=Frameshift; Positions=46; Evidence={ECO:0000305};

    Alternative splice isoforms for PIGO Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGO Gene

Post-translational modifications for PIGO Gene

  • Ubiquitination at Lys 103, Lys 136, and Lys 391
  • Glycosylation at Asn 268
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for PIGO Gene

Domains & Families for PIGO Gene

Gene Families for PIGO Gene

Suggested Antigen Peptide Sequences for PIGO Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q8TEQ8

UniProtKB/Swiss-Prot:

PIGO_HUMAN :
  • Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily.
Family:
  • Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily.
genes like me logo Genes that share domains with PIGO: view

Function for PIGO Gene

Molecular function for PIGO Gene

UniProtKB/Swiss-Prot Function:
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI third mannose which links the GPI-anchor to the C-terminus of the proteins by an amide bond (By similarity).

Enzyme Numbers (IUBMB) for PIGO Gene

Gene Ontology (GO) - Molecular Function for PIGO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
GO:0016740 transferase activity IEA --
GO:0051377 mannose-ethanolamine phosphotransferase activity IBA --
genes like me logo Genes that share ontologies with PIGO: view
genes like me logo Genes that share phenotypes with PIGO: view

Human Phenotype Ontology for PIGO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGO

miRNA for PIGO Gene

miRTarBase miRNAs that target PIGO

Inhibitory RNA Products

Flow Cytometry Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PIGO Gene

Localization for PIGO Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGO Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for PIGO Gene COMPARTMENTS Subcellular localization image for PIGO gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 2
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for PIGO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane ISS,IBA --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGO: view

Pathways & Interactions for PIGO Gene

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

UniProtKB/Swiss-Prot Q8TEQ8-PIGO_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Interacting Proteins for PIGO Gene

Selected Interacting proteins: Q8TEQ8-PIGO_HUMAN for PIGO Gene via IID

Gene Ontology (GO) - Biological Process for PIGO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process ISS,IBA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with PIGO: view

No data available for SIGNOR curated interactions for PIGO Gene

Drugs & Compounds for PIGO Gene

(3) Drugs for PIGO Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(841) Additional Compounds for PIGO Gene - From: HMDB

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

Transcripts for PIGO Gene

Unigene Clusters for PIGO Gene

Phosphatidylinositol glycan anchor biosynthesis, class O:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

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

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12 ^ 13 ^ 14a · 14b · 14c
SP1: -
SP2: -
SP3:
SP4: - - -
SP5:
SP6:
SP7: -

Relevant External Links for PIGO Gene

GeneLoc Exon Structure for
PIGO
ECgene alternative splicing isoforms for
PIGO

Expression for PIGO Gene

mRNA expression in normal human tissues for PIGO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGO Gene

This gene is overexpressed in Nasal epithelium (64.9).

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



NURSA nuclear receptor signaling pathways regulating expression of PIGO Gene:

PIGO

SOURCE GeneReport for Unigene cluster for PIGO Gene:

Hs.522099
genes like me logo Genes that share expression patterns with PIGO: view

Primer Products

No data available for mRNA differential expression in normal tissues , Protein tissue co-expression partners and mRNA Expression by UniProt/SwissProt for PIGO Gene

Orthologs for PIGO Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGO Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGO 34 35
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia PIGO 34 35
  • 89.3 (n)
cow
(Bos Taurus)
Mammalia PIGO 34 35
  • 86.66 (n)
rat
(Rattus norvegicus)
Mammalia Pigo 34
  • 85.03 (n)
mouse
(Mus musculus)
Mammalia Pigo 34 16 35
  • 84.82 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGO 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGO 34 35
  • 63.41 (n)
lizard
(Anolis carolinensis)
Reptilia PIGO 35
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigo 34
  • 57.81 (n)
Str.5464 34
zebrafish
(Danio rerio)
Actinopterygii pigo 34 35
  • 53.21 (n)
Dr.15174 34
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006269 34
  • 45.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12263 34 35
  • 44.88 (n)
worm
(Caenorhabditis elegans)
Secernentea C27A12.9 34
  • 45.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI13 35 37
  • 25 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.7453 34
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 45 (a)
OneToOne
Species where no ortholog for PIGO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGO Gene

ENSEMBL:
Gene Tree for PIGO (if available)
TreeFam:
Gene Tree for PIGO (if available)

Paralogs for PIGO Gene

No data available for Paralogs for PIGO Gene

Variants for PIGO Gene

Sequence variations from dbSNP and Humsavar for PIGO Gene

SNP ID Clin Chr 09 pos Sequence Context AA Info Type
rs142164373 Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749], Pathogenic 35,090,266(+) CAGGA(A/G)CAGTG nc-transcript-variant, reference, missense
VAR_036332 A colorectal cancer sample
rs368953604 Pathogenic 35,090,061(+) CTACA(C/T)CCACC intron-variant
rs770591449 Pathogenic 35,091,525(+) GAAGT(-/G)GGGGG intron-variant, nc-transcript-variant, reference, frameshift-variant
rs142562923 Likely benign 35,095,105(+) GGCTG(G/T)CGAAG nc-transcript-variant, reference, missense

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

Variant ID Type Subtype PubMed ID
nsv1030303 CNV gain 25217958
nsv1125318 OTHER inversion 24896259

Variation tolerance for PIGO Gene

Residual Variation Intolerance Score: 3.55% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.32; 41.37% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGO Gene

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

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

Disorders for PIGO Gene

MalaCards: The human disease database

(3) MalaCards diseases for PIGO Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PIGO in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGO_HUMAN
  • Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2) [MIM:614749]: An autosomal recessive form of intellectual disability characterized by facial dysmorphism, brachytelephalangy, and persistent elevated serum alkaline phosphatase (hyperphosphatasia). Some patients may have additional features, such as cardiac septal defects or seizures. {ECO:0000269 PubMed:22683086}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for PIGO

Genetic Association Database (GAD)
PIGO
Human Genome Epidemiology (HuGE) Navigator
PIGO
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGO
genes like me logo Genes that share disorders with PIGO: view

No data available for Genatlas for PIGO Gene

Publications for PIGO Gene

  1. PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels. (PMID: 24417746) Nakamura K. … Saitsu H. (Epilepsia 2014) 3 4 64
  2. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. (PMID: 22683086) Krawitz P.M. … Horn D. (Am. J. Hum. Genet. 2012) 3 4 64
  3. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose J.E. … Uhl G.R. (Mol. Med. 2010) 3 46 64
  4. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey S.D. … Anand S. (Diabetes Care 2010) 3 46 64
  5. DNA sequence and analysis of human chromosome 9. (PMID: 15164053) Humphray S.J. … Dunham I. (Nature 2004) 3 4 64

Products for PIGO Gene

Sources for PIGO Gene

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