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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 Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (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.

Additional gene information for PIGO Gene

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

Genomics for PIGO Gene

GeneHancer (GH) Regulatory Elements for PIGO Gene

Promoters and enhancers for PIGO 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
GH09I035095 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 563.6 +0.5 460 2.1 HDGF PKNOX1 SMAD1 ARID4B SIN3A DMAP1 ZNF2 YY1 POLR2B ZNF213 PIGO ENSG00000234181 TMEM8B SPAG8 ARHGEF39 CREB3 FANCG GC09M035090 PIR36473
GH09I035101 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 48.1 -6.6 -6611 3.1 HDGF PKNOX1 SMAD1 ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 STOML2 PIGO FANCG VCP ARHGEF39 FAM214B
GH09I035487 Promoter/Enhancer 2.5 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 27.7 -393.9 -393894 5.5 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 ZNF766 ZNF213 E2F8 ZNF143 RUSC2 LOC105376026 PIGO RGP1 FANCG ARHGEF39 TMEM8B FAM214B SPAG8 FAM166B
GH09I034162 Enhancer 0.8 ENCODE 85.1 +933.7 933743 0.2 NFIB ZNF493 RFX5 ZNF213 ZNF138 ZNF202 ZNF680 ZBTB11 ZC3H11A CEBPB PIGO NFX1 NOL6 ENSG00000228352 UBAP2 FANCG IMPDH1P1 DCAF12 FAM205A B4GALT1
GH09I035108 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 26 -16.4 -16430 9 HDGF PKNOX1 CLOCK ARNT ARID4B SIN3A YY1 E2F8 ZNF143 FOS FAM214B PIGO SPAG8 TMEM8B RUSC2 ARHGEF39 VCP FANCG UNC13B DNAJB5
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around PIGO on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIGO gene promoter:

Genomic Locations for PIGO Gene

Genomic Locations for PIGO Gene
chr9:35,088,688-35,096,601
(GRCh38/hg38)
Size:
7,914 bases
Orientation:
Minus strand
chr9:35,088,685-35,096,598
(GRCh37/hg19)

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 Lys103, Lys136, and isoforms=2391
  • Glycosylation at isoforms=2268

No data available for DME Specific Peptides for PIGO Gene

Domains & Families for PIGO Gene

Gene Families for PIGO Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted membrane proteins

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.

Enzyme Numbers (IUBMB) for PIGO Gene

Phenotypes From GWAS Catalog for PIGO Gene

Gene Ontology (GO) - Molecular Function for PIGO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0016740 transferase activity IEA --
GO:0051377 mannose-ethanolamine phosphotransferase activity IMP 24049131
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

miRNA for PIGO Gene

miRTarBase miRNAs that target PIGO

Clone 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
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 PIGO gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 2
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Nucleoli (2)
  • Nucleus (2)
See all subcellular structures

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 IBA,ISS --
GO:0016020 membrane IEA,HDA 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 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:

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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

Evidence on tissue expression from TISSUES for PIGO Gene

  • Intestine(4.2)
  • Lung(4.2)
  • Spleen(4.2)
  • Eye(4.1)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Organs:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • heart
Abdomen:
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
Pelvis:
  • anus
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with PIGO: view

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 33 34
  • 99.45 (n)
dog
(Canis familiaris)
Mammalia PIGO 33 34
  • 89.3 (n)
cow
(Bos Taurus)
Mammalia PIGO 33 34
  • 86.66 (n)
rat
(Rattus norvegicus)
Mammalia Pigo 33
  • 85.03 (n)
mouse
(Mus musculus)
Mammalia Pigo 33 16 34
  • 84.82 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGO 34
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGO 33 34
  • 63.41 (n)
lizard
(Anolis carolinensis)
Reptilia PIGO 34
  • 50 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigo 33
  • 57.81 (n)
Str.5464 33
zebrafish
(Danio rerio)
Actinopterygii pigo 33 34
  • 53.21 (n)
Dr.15174 33
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP006269 33
  • 45.72 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12263 33 34
  • 44.88 (n)
worm
(Caenorhabditis elegans)
Secernentea C27A12.9 33
  • 45.85 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI13 34 36
  • 25 (a)
OneToMany
rice
(Oryza sativa)
Liliopsida Os.7453 33
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 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 Variation AA Info Type
rs1011491250 uncertain-significance, Hyperphosphatasia with Intellectual Disability Syndrome 35,089,031(-) G/A 3_prime_UTR_variant, non_coding_transcript_variant
rs1057180311 uncertain-significance, Hyperphosphatasia with mental retardation syndrome 2 35,095,472(-) G/A coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs1057524330 uncertain-significance, not specified, Hyperphosphatasia with mental retardation syndrome 2 35,091,260(-) C/T coding_sequence_variant, missense_variant, non_coding_transcript_variant
rs10814196 benign, not specified, Hyperphosphatasia with Intellectual Disability Syndrome 35,091,883(-) C/A/G/T coding_sequence_variant, intron_variant, missense_variant, non_coding_transcript_variant, synonymous_variant
rs116248521 benign, likely-benign, not specified, Hyperphosphatasia with Intellectual Disability Syndrome, Hyperphosphatasia with mental retardation syndrome 2 35,095,143(-) G/A coding_sequence_variant, non_coding_transcript_variant, synonymous_variant

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)

Additional Variant Information 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

(5) MalaCards diseases for PIGO Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, Swiss-Prot, DISEASES, 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, ECO:0000269 PubMed:24049131, ECO:0000269 PubMed:28337824, ECO:0000269 PubMed:28545593}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PIGO

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 58
  2. Vitamin B6-responsive epilepsy due to inherited GPI deficiency. (PMID: 24049131) Kuki I … Murakami Y (Neurology 2013) 3 4 58
  3. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. (PMID: 22683086) Krawitz PM … Horn D (American journal of human genetics 2012) 3 4 58
  4. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 44 58
  5. 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 SD … DREAM investigators (Diabetes care 2010) 3 44 58

Products for PIGO Gene

Sources for PIGO Gene

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