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PIGN Gene

protein-coding   GIFtS: 58
GCID: GC18M059684

Phosphatidylinositol Glycan Anchor Biosynthesis, Class N

(Previous names: phosphatidylinositol glycan, class N)
  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 N1 2     Phosphatidylinositol Glycan, Class N1
Phosphatidylinositol-Glycan Biosynthesis Class N Protein2 3     MCAHS2
MCD42 3     MDC42
PIG-N2 3     GPI Ethanolamine Phosphate Transferase 12
MCD4 Homolog2 3     EC 2.-.-.-3
MCAHS12 5     

External Ids:    HGNC: 89671   Entrez Gene: 235562   Ensembl: ENSG000001975637   OMIM: 6060975   UniProtKB: O954273   

Export aliases for PIGN gene to outside databases

Previous GC identifers: GC18M059550 GC18M057860 GC18M057862 GC18M056421


(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 PIGN Gene:
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The
GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This
protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose
of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported.
(provided by RefSeq, Jul 2008)

GeneCards Summary for PIGN Gene:
PIGN (phosphatidylinositol glycan anchor biosynthesis, class N) is a protein-coding gene. Diseases associated with PIGN include multiple congenital anomalies-hypotonia-seizures syndrome 1, and hypotonia. GO annotations related to this gene include transferase activity.

UniProtKB/Swiss-Prot: PIGN_HUMAN, O95427
Function: Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis.
Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol
precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome
missegregation




(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_000018.10  NC_018929.2  NT_010966.15  
Regulatory elements:
   Regulatory transcription factor binding sites in the PIGN gene promoter:
         USF1   POU3F1   Olf-1   Nkx2-5   NF-kappaB   POU2F1   POU2F1a   NF-kappaB2   USF-1   NF-kappaB1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidPIGN promoter sequence
   Search Chromatin IP Primers for PIGN

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


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

Entrez Gene cytogenetic band: 18q21.33   Ensembl cytogenetic band:  18q21.33   HGNC cytogenetic band: 18q21.33

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

GeneLoc information about chromosome 18         GeneLoc Exon Structure

GeneLoc location for GC18M059684:  view genomic region     (about GC identifiers)

Start:
59,710,800 bp from pter      End:
59,854,351 bp from pter
Size:
143,552 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, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PIGN_HUMAN, O95427 (See protein sequence)
Recommended Name: GPI ethanolamine phosphate transferase 1  
Size: 931 amino acids; 105810 Da
Secondary accessions: Q7L8F8 Q8TC01 Q9NT05

Explore the universe of human proteins at neXtProt for PIGN: NX_O95427

Explore proteomics data for PIGN at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys397
  • Glycosylation2 at Asn128, Asn192, Asn350
  • Modification sites at PhosphoSitePlus

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

    REFSEQ proteins (2 alternative transcripts): 
    NP_036459.1  NP_789744.1  

    ENSEMBL proteins: 
     ENSP00000350263   ENSP00000383188   ENSP00000465241   ENSP00000467410   ENSP00000466373  
     ENSP00000466985   ENSP00000467458   ENSP00000466462   ENSP00000467812   ENSP00000468721  
     ENSP00000467618   ENSP00000464707   ENSP00000466883   ENSP00000466035   ENSP00000465506  
     ENSP00000465897   ENSP00000468456   ENSP00000466354  
    Reactome Protein details: O95427

    PIGN 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

    5 InterPro protein domains:
     IPR017849 Alkaline_Pase-like_a/b/a
     IPR007070 GPI_EtnP_transferase_1
     IPR002591 Phosphodiest/P_Trfase
     IPR017852 GPI_EtnP_transferase_1_C
     IPR017850 Alkaline_phosphatase_core

    Graphical View of Domain Structure for InterPro Entry O95427

    ProtoNet protein and cluster: O95427

    UniProtKB/Swiss-Prot: PIGN_HUMAN, O95427
    Similarity: Belongs to the PIGG/PIGN/PIGO family. PIGN subfamily


    PIGN 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: PIGN_HUMAN, O95427
    Function: Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis.
    Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol
    precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome
    missegregation

         Enzyme Number (IUBMB): EC 2.-.-.-1

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003824catalytic activity ----
    GO:0008484sulfuric ester hydrolase activity ----
    GO:0016740transferase activity IEA--
         
    PIGN for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for PIGN:
     Increased HPV18 LCR reporter a  Synthetic lethal with c-Myc af 

         3 MGI mutant phenotypes (inferred from 1 allele(MGI details for Pign):
     embryogenesis  nervous system  vision/eye 

    PIGN for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PIGN
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    miRNA
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    miRTarBase miRNAs that target PIGN:
    hsa-let-7a-5p (MIRT052542), hsa-mir-29b-3p (MIRT048378), hsa-mir-21-5p (MIRT030697), hsa-let-7e-5p (MIRT051603), hsa-mir-335-5p (MIRT016952)

    Block miRNA regulation of human, mouse, rat PIGN using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate PIGN (see all 11):
    hsa-miR-3163 hsa-miR-22 hsa-miR-548am hsa-miR-520d-5p hsa-miR-548e hsa-miR-548aa hsa-miR-548m hsa-miR-548a-3p
    SwitchGear 3'UTR luciferase reporter plasmidPIGN 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat PIGN

    Gene Editing
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    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PIGN

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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGN


    (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
    PIGN_HUMAN, O95427: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endoplasmic reticulum5
    cytosol3
    plasma membrane3
    chloroplast2

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

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

    PIGN 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 PIGN 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 PIGN
        Synthesis of glycosylphosphatidylinositol (GPI)


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

    UniProtKB/Swiss-Prot: PIGN_HUMAN, O95427
    Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis


    PIGN for pathways           About GeneDecksing

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

        Search GeneGlobe Interaction Network for PIGN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for PIGN (O954273 ENSP000003502634) via UniProtKB, MINT, STRING, and/or I2D (see all 33)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PIGOQ8TEQ83, ENSP000003393824I2D: score=1 STRING: ENSP00000339382
    SGPL1O954703, ENSP000003622984I2D: score=1 STRING: ENSP00000362298
    UNC93B1Q9H1C43, ENSP000002274714I2D: score=1 STRING: ENSP00000227471
    PISDQ9UG563, ENSP000002660954I2D: score=1 STRING: ENSP00000266095
    TMED10P497553, ENSP000003031454I2D: score=4 STRING: ENSP00000303145
    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 ----
    GO:0008152metabolic process ----
    GO:0016254preassembly of GPI anchor in ER membrane TAS--
    GO:0043687post-translational protein modification TAS--

    PIGN 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 PIGN

    Selected HMDB Compounds for PIGN (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,
    Conferences by KenesGroup, 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 PIGN gene (2 alternative transcripts): 
    NM_012327.5  NM_176787.4  

    Unigene Cluster for PIGN:

    Phosphatidylinositol glycan anchor biosynthesis, class N
    Hs.157031  [show with all ESTs]
    Unigene Representative Sequence: NM_176787
    Selected Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 20):
    ENST00000357637(uc021ulc.1) ENST00000400334(uc021ulb.1 uc021uld.1)
    ENST00000587942 ENST00000590948 ENST00000586566 ENST00000589414 ENST00000592803
    ENST00000588748 ENST00000591238 ENST00000585923 ENST00000589720 ENST00000589098
    ENST00000590765 ENST00000585458 ENST00000588571 ENST00000589339 ENST00000585344
    ENST00000585926
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate PIGN (see all 11):
    hsa-miR-3163 hsa-miR-22 hsa-miR-548am hsa-miR-520d-5p hsa-miR-548e hsa-miR-548aa hsa-miR-548m hsa-miR-548a-3p
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      QuantiTect SYBR Green Assays in human, mouse, rat PIGN
      QuantiFast Probe-based Assays in human, mouse, rat PIGN

    Additional mRNA sequence: 

    AF109219.1 AK000730.1 AK315134.1 AL137607.1 BC028363.2 

    12 DOTS entries:

    DT.95189312  DT.108987  DT.101962419  DT.121103529  DT.75158967  DT.40130738  DT.91738914  DT.92425818 
    DT.121103517  DT.40281884  DT.95242446  DT.91686386 

    Selected AceView cDNA sequences (see all 120):

    BM553450 BM718721 CA489321 CA407734 NM_176787 AL137607 CR615107 BM553793 
    AA631754 BQ130453 NM_012327 AI343501 AA506612 Z41050 AA190482 BM830623 
    BU517309 AI436366 AA515770 BM742600 AF109219 BM697906 BX406563 T17356 

    GeneLoc Exon Structure


    (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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    PIGN expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AACTTTCATA
    PIGN Expression
    About this image

    PIGN Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PIGN Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.157031
        Custom PCR Arrays for PIGN
    Primer
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    QuantiFast Probe-based Assays in human, mouse, rat PIGN
    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PIGN

    (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 PIGN gene from Selected species (see all 24)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pign1 , 5 phosphatidylinositol glycan anchor biosynthesis, class more1, 5 86.32(n)1
    87.43(a)1
      1 (49.63 cM)5
    273921  NM_013784.31  NP_038812.21 
     1055184225 
    chicken
    (Gallus gallus)
    Aves PIGN1 phosphatidylinositol glycan anchor biosynthesis, class more 73.67(n)
    71.55(a)
      420908  XM_004939690.1  XP_004939747.1 
    lizard
    (Anolis carolinensis)
    Reptilia PIGN6
    phosphatidylinositol glycan anchor biosynthesis, c...
    71(a)
    1 ↔ 1
    GL343265.1(581009-751344)
    African clawed frog
    (Xenopus laevis)
    Amphibia BQ386300.12   -- 75.73(n)    BQ386300.1 
    zebrafish
    (Danio rerio)
    Actinopterygii pign1 phosphatidylinositol glycan anchor biosynthesis, class more 64.1(n)
    62.82(a)
      556797  NM_001128237.1  NP_001121709.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG22921 , 3 CG22921 30(a)
    (best of 2)3
    45.22(n)1
    35.3(a)1
      46E13
    360491  NM_136705.21  NP_610549.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y54E10BR.13
    CELE_Y54E10BR.11
    CELE_Y54E10BR.11 33(a)3
    48.96(n)1
    38.4(a)1
      I(3059315-3069251)3
    1718811  NM_001262368.11  NP_001249297.11 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MCD4(YKL165C)4
    MCD41
    Protein involved in glycosylphosphatidylinositol (GPI) more4
    MCD41
    50.17(n)1
    40.11(a)1
      11(140691-137932)4
    8536901, 4  NP_012756.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G013801 AT3G01380 49.83(n)
    40.95(a)
      821231  NM_111004.4  NP_186787.4 
    rice
    (Oryza sativa)
    Liliopsida Os02g05810001 Os02g0581000 46.1(n)
    35.77(a)
      4329782  NM_001053776.1  NP_001047241.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    (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 PIGN (see all 2993)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 18 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0664024
    Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1)4--see VAR_0664022 R Q mis40--------
    rs557822361,2
    C--56437183(+) AAAAAA/CAACAC 2 -- int10--------
    rs750663541,2
    --56437186(+) AAAAAC/AACTGG 2 -- int11Minor allele frequency- A:0.50NA 2
    rs30517021,2
    C--56491119(+) ATAAC-/TGAGGAA 2 -- int10--------
    rs3711025131,2
    C--56503284(+) TGTGT-/TAATATA 2 -- int10--------
    rs30814561,2
    C--56503289(+) ATATATA/-CATGT 2 -- int12Minor allele frequency- -:0.00CSA 4
    rs747470901,2
    --56505830(+) TTTTTG/TGTTTT 2 -- int11Minor allele frequency- T:0.50NA 2
    rs729418601,2
    --56505831(+) TTTTTG/TTTTTG 2 -- int11Minor allele frequency- T:0.50NA 2
    rs58254791,2
    C--56513765(+) ttttt-/Tttttt 2 -- int1 trp31Minor allele frequency- T:0.00NA 2
    rs578302081,2
    C--56533878(+) TAATT-/CAATTA 2 -- int11Minor allele frequency- C:0.00CSA 2

    HapMap Linkage Disequilibrium report for PIGN (59710800 - 59854351 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for PIGN (see all 12):    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2717190CNV Deletion23290073
    esv5079CNV Deletion18987735
    esv2717193CNV Deletion23290073
    esv2717192CNV Deletion23290073
    esv2717191CNV Deletion23290073
    esv2717189CNV Deletion23290073
    esv272602CNV Insertion20981092
    esv271938CNV Insertion20981092
    nsv131648CNV Loss16902084
    esv33793CNV Loss17666407

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

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 606097   
    OMIM disorders: 614080  
    UniProtKB/Swiss-Prot: PIGN_HUMAN, O95427
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]: An autosomal recessive
    disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and
    variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected
    individuals die before 3 years of age. Note=The disease is caused by mutations affecting the gene represented in
    this entry

  • 8 diseases for PIGN:    
    About MalaCards
    multiple congenital anomalies-hypotonia-seizures syndrome 1    hypotonia    albinism    glomerulonephritis
    diabetic nephropathy    multiple myeloma    myeloma    malaria

    1 disease from the University of Copenhagen DISEASES database for PIGN:
    Glomerulonephritis

    PIGN for disorders           About GeneDecksing

    Genetic Association Database (GAD): PIGN
    Human Genome Epidemiology (HuGE) Navigator: PIGN (2 documents)

    Export disorders for PIGN 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 PIGN gene, integrated from 10 sources (see all 18):
    (articles sorted by number of sources associating them with PIGN)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast. (PubMed id 10069808)1, 2, 3 Gaynor E.C....Emr S.D. (Mol. Biol. Cell 1999)
    2. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. (PubMed id 21493957)1, 2 Maydan G....Basel-Vanagaite L. (J. Med. Genet. 2011)
    3. 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)
    4. Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping. (PubMed id 19690890)1, 4 McDonough C.W....Bowden D.W. (Hum. Genet. 2009)
    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. Pig-n, a mammalian homologue of yeast Mcd4p, is involved in transferring phosphoethanolamine to the first mannose of the glycosylphosphatidylinositol. (PubMed id 10574991)1, 3 Hong Y....Kinoshita T. (J. Biol. Chem. 1999)
    7. Replication stress links structural and numerical cancer chromosomal instability. (PubMed id 23446422)2 Burrell R.A.... Swanton C. (Nature 2013)
    8. Partial monosomy 9p (9p22.2--&gt;pter) and partial trisomy 18q (18q21.32--&gt;qter) in a female infant with anorectal malformations. (PubMed id 22876578)1 Chen C.P....Wang W. (Genet. Couns. 2012)
    9. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S.... Dorf M.E. (Immunity 2011)
    10. Toward an understanding of the protein interaction network of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (Mol. Syst. Biol. 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: 23556 HGNC: 8967 AceView: PIGN Ensembl:ENSG00000197563 euGenes: HUgn23556
    ECgene: PIGN Kegg: 23556 H-InvDB: PIGN

    (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 PIGN Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for PIGN gene:
    Search GeneIP for patents involving PIGN

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



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