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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

PIGN Gene

protein-coding   GIFtS: 57
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)
About This Section

Aliases
Phosphatidylinositol Glycan Anchor Biosynthesis, Class N1 2     MCAHS2
Phosphatidylinositol-Glycan Biosynthesis Class N Protein2 3     MCAHS12
MCD42 3     MDC42
PIG-N2 3     GPI Ethanolamine Phosphate Transferase 12
MCD4 Homolog2 3     EC 2.-.-.-3
Phosphatidylinositol Glycan, Class N1     

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, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and hypotonia, and among its related super-pathways are Post-translational modification: synthesis of GPI-anchored proteins and Post-translational protein modification. 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)




(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000018.9  NT_025028.14  NC_018929.2  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for PIGN

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: PIGN_HUMAN, O95427 (See protein sequence)
Recommended Name: GPI ethanolamine phosphate transferase 1  
Size: 931 amino acids; 105810 Da
Subcellular location: Endoplasmic reticulum membrane; Multi-pass membrane protein (By similarity)
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:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_O95427

  • PIGN Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    PIGN Protein Expression
    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
    Human Recombinant Protein Products for PIGN: 
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    Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view):    About this table

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

    PIGN for ontologies           About GeneDecksing



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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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)

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

         Gene Ontology (GO): 3 molecular function terms (GO ID links to tree view):    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:
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    SwitchGear 3'UTR luciferase reporter plasmidPIGN 3' UTR sequence
    Inhib. RNA
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    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    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 proteins0.79
    Synthesis of glycosylphosphatidylinositol (GPI)0.64
    Glycosylphosphatidylinositol(GPI)-anchor biosynthesis0.79
    2Asparagine N-linked glycosylation
    Post-translational protein modification0.44
    Metabolism of proteins0.35
    3Metabolism
    Metabolic pathways0.40

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    4        Reactome Pathways for PIGN
        Metabolism of proteins
    Post-translational modification: synthesis of GPI-anchored proteins
    Post-translational protein modification
    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

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for PIGN

    STRING Interaction Network Preview (showing 5 interactants - click image to see 13)

    5/17 Interacting proteins for PIGN (O954273 ENSP000003502634) via UniProtKB, MINT, STRING, and/or I2D (see all 17)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    NIP7Q9Y2213, ENSP000002549404I2D: score=1 STRING: ENSP00000254940
    PIGOQ8TEQ83, ENSP000003393824I2D: score=1 STRING: ENSP00000339382
    SGPL1O954703, ENSP000003622984I2D: score=1 STRING: ENSP00000362298
    UNC93B1Q9H1C43, ENSP000002274714I2D: score=1 STRING: ENSP00000227471
    PISDQ9UG563, ENSP000002660954I2D: score=1 STRING: ENSP00000266095
    About this table

    Gene Ontology (GO): 5/6 biological process terms (GO ID links to tree view) (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 HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section
    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for PIGN

    10/898 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--

    Search CenterWatch for drugs/clinical trials and news about PIGN

    (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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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
    18/20 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
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    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 

    24/120 AceView cDNA sequences (see all 120):

    BM553793 NM_012327 CA407734 BM718721 AI343501 BM830623 BU517309 CA489321 
    AA515770 BM742600 NM_176787 AA190482 AI436366 BM553450 BQ130453 CR615107 
    AA506612 AL137607 AA631754 Z41050 AF109219 Z45338 BE349240 AW204163 

    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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    See PIGN Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for PIGN

    SOURCE GeneReport for Unigene cluster: Hs.157031
        SABiosciences Custom PCR Arrays for PIGN
    Primer
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    In Situ
    Assay Products:
     

     
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    (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)
    About This Section

    This gene was present in the common ancestor of eukaryotes.

    Orthologs for PIGN gene from 10/23 species (see all 23)    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_418994.3  XP_418994.2 
    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 zgc:1723241 zgc:172324 62.81(n)
    60.73(a)
      556797  NM_001128237.1  NP_001121709.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG22921 , 3 CG22921 30(a)
    (best of 2)3
    44.77(n)1
    34.9(a)1
      46E13
    360491  NM_136705.21  NP_610549.11 
    worm
    (Caenorhabditis elegans)
    Secernentea Y54E10BR.13
    CELE_Y54E10BR.11
    Protein Y54E10BR.11 33(a)3
    47.87(n)1
    36.74(a)1
      I(3059315-3069251)3
    1718811  NM_058696.31  NP_491097.31 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes MCD4(YKL165C)4
    MCD41
    Protein involved in glycosylphosphatidylinositol (GPI) more4
    Mcd4p1
    49.83(n)1
    39.77(a)1
      11(140691-137932)4
    8536901, 4  NP_012756.11, 4 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT3G013801 sulfatase and phosphatidylinositolglycan class N domain-containing more 50.11(n)
    41.29(a)
      821231  NM_111004.4  NP_186787.4 
    rice
    (Oryza sativa)
    Liliopsida Os02g05810001 hypothetical protein 46.32(n)
    36.19(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)
    About This Section
      --

    (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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/2993 SNPs in PIGN are shown (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) 10/12 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
    SABiosciences Cancer Mutation 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.)
    About This Section
    OMIM gene information: 606097    OMIM disorders: --

    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

  • 5 diseases for PIGN:    About MalaCards
    multiple congenital anomalies - hypotonia - seizures syndrome    hypotonia    albinism    glomerulonephritis
    gastric cancer

    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)
    About This Section

    PubMed articles for PIGN gene, integrated from 9 sources (see all 17):
    (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. (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. (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. (2010)
    4. Genetic analysis of diabetic nephropathy on chromosom e 18 in African Americans: linkage analysis and dense SNP mapping. (PubMed id 19690890)1, 4 McDonough C.W....Bowden D.W. (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. (2004)
    6. Pig-n, a mammalian homologue of yeast Mcd4p, is invol ved in transferring phosphoethanolamine to the first mannose of the glycosylpho sphatidylinositol. (PubMed id 10574991)1, 3 Hong Y....Kinoshita T. (1999)
    7. Partial monosomy 9p (9p22.2-->pter) and partial tri somy 18q (18q21.32-->qter) in a female infant with anorectal malformations. (PubMed id 22876578)1 Chen C.P....Wang W. (2012)
    8. Mapping a dynamic innate immunity protein interaction network regulating type I interferon production. (PubMed id 21903422)1 Li S....Dorf M.E. (2011)
    9. Toward an understanding of the protein interaction net work of the human liver. (PubMed id 21988832)1 Wang J....Yang X. (2011)
    10. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 23556 HGNC: 8967 AceView: PIGN Ensembl:ENSG00000197563 euGenes: HUgn23556
    ECgene: PIGN Kegg: 23556 H-InvDB: PIGN

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    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
    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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    About This Section

     
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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