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    PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) [ Homo sapiens (human) ]

    Gene ID: 54872, updated on 3-Nov-2024

    Summary

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    Official Symbol
    PIGGprovided by HGNC
    Official Full Name
    phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)provided by HGNC
    Primary source
    HGNC:HGNC:25985
    See related
    Ensembl:ENSG00000174227 MIM:616918; AllianceGenome:HGNC:25985
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    EMM; GPI7; LAS21; MRT53; NEDHSCA; PRO4405; RLGS1930
    Summary
    This gene encodes an enzyme involved in glycosylphosphatidylinositol-anchor biosynthesis. The encoded protein, which is localized to the endoplasmic reticulum, is involved in transferring ethanoloamine phosphate to mannose 2 of glycosylphosphatidylinositol species H7 to form species H8. Allelic variants of this gene have been associated with intellectual disability, hypotonia, and early-onset seizures. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2016]
    Expression
    Ubiquitous expression in skin (RPKM 5.1), thyroid (RPKM 4.0) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See PIGG in Genome Data Viewer
    Location:
    4p16.3
    Exon count:
    17
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 4 NC_000004.12 (499210..540200)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 4 NC_060928.1 (492591..533582)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 4 NC_000004.11 (492999..533989)

    Chromosome 4 - NC_000004.12Genomic Context describing neighboring genes Neighboring gene endogenous retrovirus group FRD member 1, envelope pseudogene Neighboring gene ATP binding cassette subfamily A member 11, pseudogene Neighboring gene zinc finger protein 721 Neighboring gene ReSE screen-validated silencer GRCh37_chr4:459400-459596 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21127 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 15098 Neighboring gene endogenous retrovirus group FRD member 1, envelope pseudogene Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:492231-493096 Neighboring gene H3K27ac hESC enhancer GRCh37_chr4:493097-493960 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 21129 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr4:568739-569432 Neighboring gene uncharacterized LOC105374338 Neighboring gene transmembrane protein 271

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. Makrythanasis P, et al. Am J Hum Genet, 2016 Apr 7. PMID 26996948, Free PMC Article
    2. Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function. Zhao JJ, et al. Hum Mutat, 2017 Oct. PMID 28581210, Free PMC Article
    3. Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability. Parsamanesh N, et al. J Mol Neurosci, 2019 Dec. PMID 31414351
    4. PIGG variant pathogenicity assessment reveals characteristic features within 19 families. Tremblay-Laganière C, et al. Genet Med, 2021 Oct. PMID 34113002, Free PMC Article
    5. Wolf-Hirschhorn Syndrome – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. Adam MP, et al. , 1993. PMID 20301362

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
      Title: PIGG variant pathogenicity assessment reveals characteristic features within 19 families.
    2. Arg658Gln mutation segregates with nonsyndromic intellectual disability in Iranian family.
      Title: Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.
    3. Based on genetic and functional evidence, we confirm that pathogenic variants in PIGG cause an intellectual disability syndrome, and we find that loss of function of PIGG is associated with Glycosylphosphatidylinositol deficiency
      Title: Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.
    4. loss-of-function variants in PIGG associated with intellectual disability and hypotonia
      Title: Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.
    5. Observational study of gene-disease association. (HuGE Navigator)
      Title: Association of genetic variants with hemorrhagic stroke in Japanese individuals.
    Submit: New GeneRIF Correction

    Phenotypes

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    Review eQTL and phenotype association data in this region using PheGenI

    Associated conditions

    Description Tests
    BLOOD GROUP, EMM SYSTEM
    MedGen: C5676953 OMIM: 619812 GeneReviews: Not available
    		Compare labs
    Intellectual disability, autosomal recessive 53
    MedGen: C4310794 OMIM: 616917 GeneReviews: Not available
    		Compare labs

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Clone Names

    • FLJ20265, FLJ39925, MGC131903, DKFZp434A1810, DKFZp434C1712, DKFZp434M1131

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables CP2 mannose-ethanolamine phosphotransferase activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables CP2 mannose-ethanolamine phosphotransferase activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables phosphotransferase activity, for other substituted phosphate groups TAS
    Traceable Author Statement
    more info
    		  
    enables transferase activity IMP
    Inferred from Mutant Phenotype
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in GPI anchor biosynthetic process IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    acts_upstream_of_or_within GPI anchor biosynthetic process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in GPI anchor biosynthetic process TAS
    Traceable Author Statement
    more info
    		  
    Component Evidence Code Pubs
    located_in endoplasmic reticulum IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    is_active_in endoplasmic reticulum membrane IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    located_in endoplasmic reticulum membrane TAS
    Traceable Author Statement
    more info
    		  
    located_in membrane HDA PubMed 

    General protein information

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    Preferred Names
    GPI ethanolamine phosphate transferase 2
    Names
    EMM blood group antigen
    LAS21 (GPI7) homolog
    phosphatidylinositol-glycan biosynthesis class G protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_051621.1 RefSeqGene

      Range
      5011..46001
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_001127178.3 → NP_001120650.1  GPI ethanolamine phosphate transferase 2 isoform 1

      See identical proteins and their annotated locations for NP_001120650.1

      Status: REVIEWED

      Source sequence(s)
      AB162713, AC116565, AL162084, DA548833
      Consensus CDS
      CCDS46992.1
      UniProtKB/Swiss-Prot
      B4DKC7, Q2TAK5, Q5H8A4, Q6UX31, Q7L5Y4, Q8N866, Q8NCC9, Q96SY9, Q9BVT7, Q9NXG5
      UniProtKB/TrEMBL
      Q8NCI4
      Related
      ENSP00000415203.2, ENST00000453061.7
      Conserved Domains (1) summary
      cd16024
      Location:62 → 335
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    2. NM_001289051.2 → NP_001275980.1  GPI ethanolamine phosphate transferase 2 isoform 3

      See identical proteins and their annotated locations for NP_001275980.1

      Status: REVIEWED

      Source sequence(s)
      AC116565, AK074715, AL162084, BC001249, DA548833
      Consensus CDS
      CCDS75081.1
      UniProtKB/TrEMBL
      E7EWV1, Q8NCI4
      Related
      ENSP00000424800.1, ENST00000504346.5
      Conserved Domains (1) summary
      cd16024
      Location:1 → 246
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    3. NM_001289052.2 → NP_001275981.1  GPI ethanolamine phosphate transferase 2 isoform 4

      Status: REVIEWED

      Source sequence(s)
      AB162713, AC116565, AL162084, BC110878, DA548833
      Consensus CDS
      CCDS75080.1
      UniProtKB/TrEMBL
      Q8NCI4
      Related
      ENSP00000372494.4, ENST00000383028.8
      Conserved Domains (1) summary
      cl23718
      Location:62 → 202
      ALP_like; alkaline phosphatases and sulfatases

    4. NM_001289053.2 → NP_001275982.1  GPI ethanolamine phosphate transferase 2 isoform 5

      Status: REVIEWED

      Source sequence(s)
      BC050262, DA548833
      Consensus CDS
      CCDS75082.1
      UniProtKB/TrEMBL
      D6RFE8
      Related
      ENSP00000421550.1, ENST00000509768.1
      Conserved Domains (1) summary
      cd16024
      Location:1 → 246
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    5. NM_001289055.2 → NP_001275984.1  GPI ethanolamine phosphate transferase 2 isoform 6

      See identical proteins and their annotated locations for NP_001275984.1

      Status: REVIEWED

      Source sequence(s)
      AK296507, BC050262
      UniProtKB/Swiss-Prot
      Q5H8A4
      Conserved Domains (1) summary
      cd16024
      Location:1 → 213
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    6. NM_001289057.2 → NP_001275986.1  GPI ethanolamine phosphate transferase 2 isoform 7

      See identical proteins and their annotated locations for NP_001275986.1

      Status: REVIEWED

      Source sequence(s)
      AK097244, BC050262, DA548833
      Consensus CDS
      CCDS75083.1
      UniProtKB/Swiss-Prot
      Q5H8A4
      Related
      ENSP00000426002.1, ENST00000503111.5
      Conserved Domains (1) summary
      cd16024
      Location:1 → 246
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    7. NM_001345986.2 → NP_001332915.1  GPI ethanolamine phosphate transferase 2 isoform 3

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
      Consensus CDS
      CCDS75081.1
      UniProtKB/TrEMBL
      E7EWV1, Q8NCI4

    8. NM_001345987.2 → NP_001332916.1  GPI ethanolamine phosphate transferase 2 isoform 8

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
      UniProtKB/TrEMBL
      Q8NCI4

    9. NM_001345988.2 → NP_001332917.1  GPI ethanolamine phosphate transferase 2 isoform 9

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    10. NM_001345989.2 → NP_001332918.1  GPI ethanolamine phosphate transferase 2 isoform 10

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565
      Conserved Domains (2) summary
      COG1524
      Location:43 → 311
      Npp1; Predicted pyrophosphatase or phosphodiesterase, AlkP superfamily [General function prediction only]
      cd16024
      Location:62 → 335
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    11. NM_001345990.2 → NP_001332919.1  GPI ethanolamine phosphate transferase 2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    12. NM_001345991.2 → NP_001332920.1  GPI ethanolamine phosphate transferase 2 isoform 11

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    13. NM_001345994.2 → NP_001332923.1  GPI ethanolamine phosphate transferase 2 isoform 12

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    14. NM_017733.5 → NP_060203.3  GPI ethanolamine phosphate transferase 2 isoform 2

      Status: REVIEWED

      Source sequence(s)
      AC116565, AK000272, AK074815, AL162084, DA548833
      Consensus CDS
      CCDS3336.1
      UniProtKB/TrEMBL
      Q8NCI4
      Related
      ENSP00000311750.5, ENST00000310340.9
      Conserved Domains (1) summary
      cd16024
      Location:62 → 335
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    RNA

    1. NR_110293.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC116565, AL162084, BC144576, DA548833

    2. NR_144326.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    3. NR_144327.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    4. NR_144328.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    5. NR_144329.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    6. NR_144330.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    7. NR_144331.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    8. NR_144332.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    9. NR_144333.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    10. NR_144334.2 RNA Sequence

      Status: REVIEWED

      Source sequence(s)
      AC092574, AC116565

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000004.12 Reference GRCh38.p14 Primary Assembly

      Range
      499210..540200
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011513490.4 → XP_011511792.1  GPI ethanolamine phosphate transferase 2 isoform X1

      UniProtKB/TrEMBL
      Q8NCI4
      Conserved Domains (1) summary
      cd16024
      Location:62 → 335
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    2. XM_047415850.1 → XP_047271806.1  GPI ethanolamine phosphate transferase 2 isoform X7

    3. XM_047415853.1 → XP_047271809.1  GPI ethanolamine phosphate transferase 2 isoform X11

    4. XM_047415851.1 → XP_047271807.1  GPI ethanolamine phosphate transferase 2 isoform X8

    5. XM_047415848.1 → XP_047271804.1  GPI ethanolamine phosphate transferase 2 isoform X4

    6. XM_047415847.1 → XP_047271803.1  GPI ethanolamine phosphate transferase 2 isoform X3

    7. XM_047415849.1 → XP_047271805.1  GPI ethanolamine phosphate transferase 2 isoform X6

    8. XM_047415855.1 → XP_047271811.1  GPI ethanolamine phosphate transferase 2 isoform X13

    9. XM_011513494.4 → XP_011511796.1  GPI ethanolamine phosphate transferase 2 isoform X9

      Conserved Domains (1) summary
      cd16024
      Location:62 → 335
      GPI_EPT_2; GPI ethanolamine phosphate transferase 2; PIG-G

    10. XM_047415854.1 → XP_047271810.1  GPI ethanolamine phosphate transferase 2 isoform X12

    11. XM_047415856.1 → XP_047271812.1  GPI ethanolamine phosphate transferase 2 isoform X14

      UniProtKB/TrEMBL
      E7EM50
      Related
      ENSP00000424619.1, ENST00000506402.5

    12. XM_047415857.1 → XP_047271813.1  GPI ethanolamine phosphate transferase 2 isoform X15

    13. XM_047415846.1 → XP_047271802.1  GPI ethanolamine phosphate transferase 2 isoform X2

    14. XM_011513492.2 → XP_011511794.1  GPI ethanolamine phosphate transferase 2 isoform X5

    15. XM_047415852.1 → XP_047271808.1  GPI ethanolamine phosphate transferase 2 isoform X10

    RNA

    1. XR_924965.4 RNA Sequence

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060928.1 Alternate T2T-CHM13v2.0

      Range
      492591..533582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054350286.1 → XP_054206261.1  GPI ethanolamine phosphate transferase 2 isoform X1

    2. XM_054350292.1 → XP_054206267.1  GPI ethanolamine phosphate transferase 2 isoform X7

    3. XM_054350289.1 → XP_054206264.1  GPI ethanolamine phosphate transferase 2 isoform X4

    4. XM_054350296.1 → XP_054206271.1  GPI ethanolamine phosphate transferase 2 isoform X11

    5. XM_054350293.1 → XP_054206268.1  GPI ethanolamine phosphate transferase 2 isoform X8

    6. XM_054350288.1 → XP_054206263.1  GPI ethanolamine phosphate transferase 2 isoform X3

    7. XM_054350291.1 → XP_054206266.1  GPI ethanolamine phosphate transferase 2 isoform X6

    8. XM_054350294.1 → XP_054206269.1  GPI ethanolamine phosphate transferase 2 isoform X9

    9. XM_054350297.1 → XP_054206272.1  GPI ethanolamine phosphate transferase 2 isoform X12

    10. XM_054350298.1 → XP_054206273.1  GPI ethanolamine phosphate transferase 2 isoform X13

    11. XM_054350299.1 → XP_054206274.1  GPI ethanolamine phosphate transferase 2 isoform X14

      UniProtKB/TrEMBL
      E7EM50

    12. XM_054350300.1 → XP_054206275.1  GPI ethanolamine phosphate transferase 2 isoform X15

    13. XM_054350287.1 → XP_054206262.1  GPI ethanolamine phosphate transferase 2 isoform X2

    14. XM_054350290.1 → XP_054206265.1  GPI ethanolamine phosphate transferase 2 isoform X5

    15. XM_054350295.1 → XP_054206270.1  GPI ethanolamine phosphate transferase 2 isoform X10

    RNA

    1. XR_008487001.1 RNA Sequence

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q5H8A4.1 GenPept UniProtKB/Swiss-Prot:Q5H8A4

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