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PIGO Gene

protein-coding   GIFtS: 60
GCID: GC09M035088

Phosphatidylinositol Glycan Anchor Biosynthesis, Class O

(Previous names: phosphatidylinositol glycan, class O)
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class O1 2     GPI Ethanolamine Phosphate Transferase 32
Phosphatidylinositol-Glycan Biosynthesis Class O Protein2 3     EC 2.-.-.-3
HPMRS22 5     PIG-O3
Phosphatidylinositol Glycan, Class O1     

External Ids:    HGNC: 232151   Entrez Gene: 847202   Ensembl: ENSG000001652827   OMIM: 6147305   UniProtKB: Q8TEQ83   

Export aliases for PIGO gene to outside databases

Previous GC identifers: GC09M035400 GC09M035258 GC00U912968 GC09M035079 GC09M035080 GC09M035081


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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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 with mental retardation syndrome. GO annotations related to this gene include transferase activity. An important paralog of this gene is PIGG.

UniProtKB/Swiss-Prot: PIGO_HUMAN, Q8TEQ8
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)




(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 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NT_008413.19  NC_018920.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIGO gene promoter:
         CREB   USF-1   deltaCREB   NF-kappaB1   GATA-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGO promoter sequence
   Search Chromatin IP Primers for PIGO

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PIGO


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

Entrez Gene cytogenetic band: 9p13.3   Ensembl cytogenetic band:  9p13.3   HGNC cytogenetic band: 9p13.2

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M035088:  view genomic region     (about GC identifiers)

Start:
35,088,685 bp from pter      End:
35,096,598 bp from pter
Size:
7,914 bases      Orientation:
minus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: PIGO_HUMAN, Q8TEQ8 (See protein sequence)
Recommended Name: GPI ethanolamine phosphate transferase 3  
Size: 1089 amino acids; 118699 Da
Subunit: Forms a complex with PIGF. PIGF is required to stabilize PIGO (By similarity)
Sequence caution: Sequence=AAC07985.1; Type=Erroneous gene model prediction; Sequence=AAH01030.1; Type=Erroneous
initiation; Note=Translation N-terminally extended; Sequence=AAH13987.1; Type=Erroneous initiation;
Note=Translation N-terminally extended; Sequence=BAB84890.1; Type=Frameshift; Positions=Several;
Sequence=BAC03414.1; Type=Frameshift; Positions=Several; Sequence=CAD38806.1; Type=Frameshift; Positions=46;
Secondary accessions: B1AML3 Q6P154 Q6UX80 Q8TDS8 Q96CS9 Q9BVN9 Q9Y4B0
Alternative splicing: 2 isoforms:  Q8TEQ8-1   Q8TEQ8-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PIGO: NX_Q8TEQ8

Explore proteomics data for PIGO at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys103, Lys136, Lys391
  • Glycosylation2 at Asn268
  • Modification sites at PhosphoSitePlus

  • See PIGO Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (3 alternative transcripts): 
    NP_001188413.1  NP_116023.2  NP_690577.2  

    ENSEMBL proteins: 
     ENSP00000298004   ENSP00000367880   ENSP00000339382   ENSP00000354678  
    Reactome Protein details: Q8TEQ8

    PIGO Human Recombinant Protein Products:

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PIG: Phosphatidylinositol glycan anchor biosynthesis

    3 InterPro protein domains:
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR002591 Phosphodiest/P_Trfase
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry Q8TEQ8

    ProtoNet protein and cluster: Q8TEQ8

    1 Blocks protein domain: IPB002591 Type I phosphodiesterase/nucleotide pyrophosphatase

    UniProtKB/Swiss-Prot: PIGO_HUMAN, Q8TEQ8
    Similarity: Belongs to the PIGG/PIGN/PIGO family. PIGO subfamily


    PIGO for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PIGO_HUMAN, Q8TEQ8
    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 Number (IUBMB): EC 2.-.-.-1

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003674molecular_function ND--
    GO:0003824catalytic activity ----
    GO:0005515protein binding ----
    GO:0008484sulfuric ester hydrolase activity ----
    GO:0016740transferase activity IEA--
         
    PIGO for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PIGO:
     Decreased viability of wild-ty  Decreased viability with pacli 

    Animal Models:
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    hsa-mir-92b-3p (MIRT040643)

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    2 qRT-PCR Assays for microRNAs that regulate PIGO:
    hsa-miR-647 hsa-miR-3678-3p
    SwitchGear 3'UTR luciferase reporter plasmidPIGO 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PIGO_HUMAN, Q8TEQ8: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    plasma membrane3
    nucleus1

    Gene Ontology (GO): 2 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005789endoplasmic reticulum membrane ISS--
    GO:0016021integral component of membrane IEA--

    PIGO for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, 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 Apr 2014 via Entrez Gene).
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    SuperPaths for PIGO About    
    See pathways by source

    SuperPathContained pathways About
    1Post-translational modification- synthesis of GPI-anchored proteins
    Post-translational modification- synthesis of GPI-anchored proteins0.76
    Synthesis of glycosylphosphatidylinositol (GPI)0.00
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.76
    2Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
    Post-translational protein modification0.43
    Metabolism of proteins0.30
    3Metabolism
    Metabolic pathways0.38

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for PIGO
        Synthesis of glycosylphosphatidylinositol (GPI)


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

    UniProtKB/Swiss-Prot: PIGO_HUMAN, Q8TEQ8
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis


    PIGO for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for PIGO
    Interactions:

        GeneGlobe Interaction Network for PIGO

    STRING Interaction Network Preview (showing 5 interactants - click image to see 20)

    Selected Interacting proteins for PIGO (Q8TEQ83 ENSP000003393824) via UniProtKB, MINT, STRING, and/or I2D (see all 23)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCBP4P577233, ENSP000003784614I2D: score=1 STRING: ENSP00000378461
    PIGFQ073263, ENSP000002813824I2D: score=1 STRING: ENSP00000281382
    PIGGQ5H8A43, ENSP000004152034I2D: score=1 STRING: ENSP00000415203
    PIGNO954273, ENSP000003502634I2D: score=1 STRING: ENSP00000350263
    PISDQ9UG563, ENSP000002660954I2D: score=1 STRING: ENSP00000266095
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006501C-terminal protein lipidation TAS--
    GO:0006506GPI anchor biosynthetic process ISS--
    GO:0008152metabolic process ----
    GO:0016254preassembly of GPI anchor in ER membrane TAS--
    GO:0043687post-translational protein modification TAS--

    PIGO for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PIGO

    Selected HMDB Compounds for PIGO (see all 898)    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--



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 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,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PIGO gene (3 alternative transcripts): 
    NM_001201484.1  NM_032634.3  NM_152850.3  

    Unigene Cluster for PIGO:

    Phosphatidylinositol glycan anchor biosynthesis, class O
    Hs.522099  [show with all ESTs]
    Unigene Representative Sequence: AL833956
    9 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000298004 ENST00000474436(uc003zwe.3 uc003zwd.3 uc003zwc.1)
    ENST00000378617 ENST00000465745(uc003zwg.2) ENST00000491687 ENST00000472208
    ENST00000492770 ENST00000341666 ENST00000361778(uc003zwf.3)
    miRNA
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    2 qRT-PCR Assays for microRNAs that regulate PIGO:
    hsa-miR-647 hsa-miR-3678-3p
    SwitchGear 3'UTR luciferase reporter plasmidPIGO 3' UTR sequence
    Inhib. RNA
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    Additional mRNA sequence: 

    AL833956.1 AY358472.1 BC001030.2 BC013987.2 BC029271.1 BC036916.1 BC065282.1 

    9 DOTS entries:

    DT.97804013  DT.97844314  DT.91699743  DT.75116313  DT.91691151  DT.97818237  DT.100661504  DT.100661508 
    DT.91723836 

    Selected AceView cDNA sequences (see all 135):

    BM757134 BC065282 BE139632 AY358472 BI907424 BM766758 AW469987 NM_032634 
    AK074064 BQ649237 AI689809 BM847013 BM756837 BE909527 BQ647130 BC013987 
    AI569184 BU633181 BI760735 AK090433 AA582939 BM763451 BI755733 NM_152850 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for PIGO (see all 7)    About this scheme

    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:                                                                                                                  


    ECgene alternative splicing isoforms for PIGO

    (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™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PIGO expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: CAGCCAGGGG
    PIGO Expression
    About this image


    PIGO expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 3) fully expand
     
     Cartilage (Muscoskeletal System)    fully expand to see all 2 entries
             Intervertebral Disc Nucleus Pulposus Cells Nucleus Pulposus
             Nucleus Pulposus
     
     Gut Tube (Gastrointestinal Tract)
             Foregut
     
     Primitive Streak (Early Embryonic Tissues)
             Notochord
    PIGO Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIGO Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.522099
        Custom PCR Arrays for PIGO
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGO

    (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)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIGO gene from Selected species (see all 16)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pigo1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 84.82(n)1
    86.23(a)1
      4 (22.98 cM)5
    567031  NM_020035.21  NP_064419.21 
     430176355 
    chicken
    (Gallus gallus)
    Aves PIGO1 phosphatidylinositol glycan anchor biosynthesis, class more 63.41(n)
    59.01(a)
      101748924  XM_004937119.1  XP_004937176.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGO6
    phosphatidylinositol glycan anchor biosynthesis, c...
    50(a)
    1 ↔ 1
    GL343804.1(103212-119255)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.54642 Transcribed sequence with weak similarity to protein more 74.78(n)    BQ522572.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.151742 Transcribed sequence with weak similarity to protein more 77.42(n)    57095222 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG122631 CG12263 44.88(n)
    34.44(a)
      37118  NM_137488.2  NP_611332.1 
    worm
    (Caenorhabditis elegans)
    Secernentea C27A12.91 C27A12.9 45.85(n)
    39.17(a)
      172285  NM_059349.4  NP_491750.3 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes GPI13(YLL031C)4 ER membrane localized phosphoryltransferase that adds more   --   12(80205-77152) 850628  NP_013069.1 
    rice
    (Oryza sativa)
    Liliopsida Os.74532 Oryza sativa (japonica cultivar-group) cDNA cloneJ more 76.88(n)    AK068119.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for PIGO gene
    PIGG2  

    PIGO for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, 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), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PIGO (see all 300)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0363324
    A colorectal cancer sample4--see VAR_0363322 L M mis40--------
    VAR_0688094
    Hyperphosphatasia with mental retardation syndrome 2 (HPMRS2)4--see VAR_0688092 L F mis40--------
    rs1507178691,2
    --35056591(+) ACACAA/GTTTTG 3 -- ds50010--------
    rs1925011071,2
    --35056700(+) GCTTCC/TACAGA 3 -- ds50010--------
    rs1137855371,2
    F--35056893(+) AGCGGT/AGGGAT 3 -- ds50011Minor allele frequency- A:0.50CSA 2
    rs792769331,2
    C,F--35057223(+) TAGGTG/CCAAGT 3 -- ut311Minor allele frequency- C:0.12WA 118
    rs1832281011,2
    --35057255(+) TTCCAA/CTTCGG 3 -- ut310--------
    rs1440781701,2
    --35057361(+) GTCAGC/TGGCCC 3 -- ut310--------
    rs5567661,2
    C,F,H--35057449(+) TTCTCC/AAGCAC 3 -- ut3125Minor allele frequency- A:0.02MN NA NS EA WA CSA EU 2970
    rs1473167711,2
    C,F--35057597(+) AATGAA/GGCCCA 6 L F mis12Minor allele frequency- G:0.00NA EU 5845

    HapMap Linkage Disequilibrium report for PIGO (35088685 - 35096598 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PIGO:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv893044CNV Loss21882294
    nsv893043CNV Gain21882294

    Human Gene Mutation Database (HGMD): PIGO
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PIGO
    DNA2.0 Custom Variant and Variant Library Synthesis for PIGO

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 614730   
    OMIM disorders: 614749  
    UniProtKB/Swiss-Prot: PIGO_HUMAN, Q8TEQ8
  • 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. Note=The disease is caused by mutations affecting the gene represented in this entry

  • 13 diseases for PIGO:    
    About MalaCards
    hyperphosphatasia with mental retardation syndrome 2    hyperphosphatasia with mental retardation syndrome    hyperphosphatasia with mental retardation syndrome 1    plasmodium falciparum malaria
    gingival overgrowth    gingivitis    intellectual disability    malaria
    breast and colorectal cancer    mental retardation    multiple myeloma    myeloma
    colorectal cancer


    PIGO for disorders           About GeneDecksing

    Genetic Association Database (GAD): PIGO
    Human Genome Epidemiology (HuGE) Navigator: PIGO (4 documents)

    Export disorders for PIGO gene to outside databases

    (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)
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    PubMed articles for PIGO gene, integrated from 10 sources (see all 20):
    (articles sorted by number of sources associating them with PIGO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation. (PubMed id 22683086)1, 2 Krawitz P.M....Horn D. (Am. J. Hum. Genet. 2012)
    2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    3. Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PubMed id 20628086)1, 4 Bailey S.D....Anand S. (Diabetes Care 2010)
    4. DNA sequence and analysis of human chromosome 9. (PubMed id 15164053)1, 2 Humphray S.J.... Dunham I. (Nature 2004)
    5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    6. The secreted protein discovery initiative (SPDI), a large-scale effort to identify novel human secreted and transmembrane proteins: a bioinformatics assessment. (PubMed id 12975309)1, 2 Clark H.F.... Gray A.M. (Genome Res. 2003)
    7. Identification of G protein-coupled receptor genes from the human genome sequence. (PubMed id 12044878)1, 2 Takeda S.... Mitaku S. (FEBS Lett. 2002)
    8. Requirement of PIG-F and PIG-O for transferring phosphoethanolamine to the third mannose in glycosylphosphatidylinositol. (PubMed id 10781593)1, 3 Hong Y....Kinoshita T. (J. Biol. Chem. 2000)
    9. A proteome-wide, quantitative survey of in vivo ubiquitylation sites reveals widespread regulatory roles. (PubMed id 21890473)1 Wagner S.A....Choudhary C. (amp 2011)
    10. Systematic and quantitative assessment of the ubiquitin-modified proteome. (PubMed id 21906983)1 Kim W....Gygi S.P. (Mol. Cell 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 84720 HGNC: 23215 AceView: PIGO Ensembl:ENSG00000165282 euGenes: HUgn84720
    ECgene: PIGO Kegg: 84720 H-InvDB: PIGO

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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    NameDescription
    PharmGKB entry for PIGO Pharmacogenomics, SNPs, Pathways

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

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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