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Aliases for PIGG Gene

Aliases for PIGG Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class G 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class G Protein 3 4
  • GPI7 3 4
  • GPI Ethanolamine Phosphate Transferase 2 3
  • Phosphatidylinositol Glycan, Class G 2
  • GPI7 Homolog 4
  • EC 2.-.-.- 4
  • RLGS1930 3
  • PRO4405 3
  • LAS21 3
  • MRT53 3
  • PIG-G 4
  • HGPI7 4

External Ids for PIGG Gene

Summaries for PIGG Gene

Entrez Gene Summary for PIGG Gene

  • 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]

GeneCards Summary for PIGG Gene

PIGG (Phosphatidylinositol Glycan Anchor Biosynthesis Class G) is a Protein Coding gene. Diseases associated with PIGG include Mental Retardation, Autosomal Recessive 53 and Hypotonia. Among its related pathways are Glycosylphosphatidylinositol (GPI)-anchor biosynthesis and Metabolism of proteins. GO annotations related to this gene include phosphotransferase activity, for other substituted phosphate groups and CP2 mannose-ethanolamine phosphotransferase activity.

UniProtKB/Swiss-Prot for PIGG Gene

  • Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI second mannose.

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

Genomics for PIGG Gene

Regulatory Elements for PIGG Gene

Enhancers for PIGG Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04F000472 1.1 ENCODE 13.7 -25.4 -25407 2.1 HDGF PKNOX1 ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1 ZNF143 ZNF721 ZNF718 PIGG CTBP1-AS2 ENSG00000272588 CRIPAK ABCA11P PIR50641
GH04F000385 0.4 ENCODE 12.2 -113.2 -113154 0.2 PKNOX1 POLR2A ZNF721 PIGG GC04P000388 GC04P000351
GH04F000921 1.4 FANTOM5 Ensembl ENCODE 2.5 +424.4 424374 4.5 HDGF KLF1 TBL1XR1 NFXL1 EBF1 ZIC2 ZBTB40 RELA ZNF121 GLIS2 FGFRL1 DGKQ SLC26A1 GAK PCGF3 PIGG TMEM175 UVSSA ZNF721 GC04M000897
GH04F000386 0.2 Ensembl 12.2 -112.4 -112400 0.8 ZNF721 PIGG ENSG00000281016 ZNF519P4
GH04F000878 1.2 FANTOM5 Ensembl ENCODE 1.5 +380.5 380479 2.3 CTCF POLR2A GLIS1 IKZF1 EED RAD21 MAFK SPI1 DGKQ PCGF3 TMEM175 PIGG UVSSA GC04P000882 PIR57058 PIR45035
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around PIGG on UCSC Golden Path with GeneCards custom track

Promoters for PIGG Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001428677 -100 1801 HDGF PKNOX1 CREB3L1 MLX WRNIP1 ARID4B SIN3A DMAP1 ZNF2 YY1

Genomic Location for PIGG Gene

Chromosome:
4
Start:
499,200 bp from pter
End:
540,196 bp from pter
Size:
40,997 bases
Orientation:
Plus strand

Genomic View for PIGG Gene

Genes around PIGG on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
PIGG Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for PIGG Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for PIGG Gene

Proteins for PIGG Gene

  • Protein details for PIGG Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q5H8A4-PIGG_HUMAN
    Recommended name:
    GPI ethanolamine phosphate transferase 2
    Protein Accession:
    Q5H8A4
    Secondary Accessions:
    • B4DKC7
    • Q2TAK5
    • Q6UX31
    • Q7L5Y4
    • Q8N866
    • Q8NCC9
    • Q96SY9
    • Q9BVT7
    • Q9NXG5

    Protein attributes for PIGG Gene

    Size:
    983 amino acids
    Molecular mass:
    108173 Da
    Quaternary structure:
    • Forms a complex with PIGF. PIGF is required to stabilize it. Competes with PIGO for the binding of PIGF.
    SequenceCaution:
    • Sequence=AAQ88902.1; Type=Erroneous termination; Positions=311; Note=Translated as Gln.; Evidence={ECO:0000305}; Sequence=BAA91046.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305}; Sequence=BAB55130.1; Type=Erroneous initiation; Note=Translation N-terminally extended.; Evidence={ECO:0000305};

    Alternative splice isoforms for PIGG Gene

neXtProt entry for PIGG Gene

Post-translational modifications for PIGG Gene

No data available for DME Specific Peptides for PIGG Gene

Domains & Families for PIGG Gene

Gene Families for PIGG Gene

Graphical View of Domain Structure for InterPro Entry

Q5H8A4

UniProtKB/Swiss-Prot:

PIGG_HUMAN :
  • Belongs to the PIGG/PIGN/PIGO family. PIGG subfamily.
Family:
  • Belongs to the PIGG/PIGN/PIGO family. PIGG subfamily.
genes like me logo Genes that share domains with PIGG: view

Function for PIGG Gene

Molecular function for PIGG Gene

UniProtKB/Swiss-Prot Function:
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the GPI second mannose.

Enzyme Numbers (IUBMB) for PIGG Gene

Gene Ontology (GO) - Molecular Function for PIGG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0016740 transferase activity IEA --
GO:0016780 phosphotransferase activity, for other substituted phosphate groups TAS --
GO:0051267 CP2 mannose-ethanolamine phosphotransferase activity IDA 15632136
genes like me logo Genes that share ontologies with PIGG: view

Phenotypes for PIGG Gene

GenomeRNAi human phenotypes for PIGG:
genes like me logo Genes that share phenotypes with PIGG: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGG

Inhibitory RNA Products

Flow Cytometry Products

No data available for Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for PIGG Gene

Localization for PIGG Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGG Gene

Endoplasmic reticulum membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for PIGG gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
nucleus 2
cytosol 2

Gene Ontology (GO) - Cellular Components for PIGG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IDA 15632136
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA,IDA 19946888
GO:0016021 integral component of membrane IEA --
GO:0030176 integral component of endoplasmic reticulum membrane IBA --
genes like me logo Genes that share ontologies with PIGG: view

Pathways & Interactions for PIGG Gene

genes like me logo Genes that share pathways with PIGG: view

UniProtKB/Swiss-Prot Q5H8A4-PIGG_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGG Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IDA 15632136
GO:0008152 metabolic process IEA --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGG: view

No data available for SIGNOR curated interactions for PIGG Gene

Drugs & Compounds for PIGG Gene

(3) Drugs for PIGG Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Sphingosine Experimental Pharma 0
sphinganine Pharma 0
Sphingosine-1-phosphate Pharma Full agonist, Agonist endogenous second messenger and ligand for S1PR1, Endogenous agonist at S1P1-5 0

(841) Additional Compounds for PIGG Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • (2S)-2-amino-1-hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
  • 2-Amino-1-hydroxy-3-Octadecanone
  • 3-Dehydro-D-sphinganine
  • 3-Dehydrosphinganine
16105-69-4
3-O-Sulfogalactosylceramide (d18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-Sulfo-beta-D-galactosylceramide
  • 3-O-Sulfo-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
  • Cerebroside 3-sulfate
244215-65-4
genes like me logo Genes that share compounds with PIGG: view

Transcripts for PIGG Gene

Unigene Clusters for PIGG Gene

Phosphatidylinositol glycan anchor biosynthesis, class G:
Representative Sequences:

Inhibitory RNA Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for PIGG Gene

ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b · 2c ^ 3a · 3b ^ 4 ^ 5 ^ 6 ^ 7 ^ 8 ^ 9a · 9b · 9c ^ 10a · 10b · 10c · 10d ^ 11 ^ 12 ^ 13a · 13b ·
SP1: - - - - - - -
SP2: - - - - - -
SP3: - - - - - - -
SP4: - - - - - - - -
SP5: - -
SP6: - - - - - - -
SP7: - - - - - -
SP8:
SP9: - -
SP10: - -
SP11:
SP12:
SP13: - - -
SP14:
SP15: - -
SP16:
SP17:
SP18:

ExUns: 13c · 13d ^ 14a · 14b ^ 15a · 15b · 15c ^ 16a · 16b · 16c ^ 17a · 17b · 17c ^ 18a · 18b ^ 19a · 19b ^ 20a · 20b
SP1: - - - - - - - - -
SP2: - - - - - - - - -
SP3: - - - - - - - - -
SP4:
SP5:
SP6:
SP7:
SP8:
SP9:
SP10: - - - - - - - -
SP11: - - - - - - - -
SP12: - -
SP13:
SP14: - - - - - -
SP15:
SP16: - - - -
SP17:
SP18:

Relevant External Links for PIGG Gene

GeneLoc Exon Structure for
PIGG
ECgene alternative splicing isoforms for
PIGG

Expression for PIGG Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for PIGG Gene

Protein differential expression in normal tissues from HIPED for PIGG Gene

This gene is overexpressed in Testis (25.5), Retina (14.9), Placenta (9.3), and Islet of Langerhans (9.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for PIGG Gene



Protein tissue co-expression partners for PIGG Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIGG Gene:

PIGG

SOURCE GeneReport for Unigene cluster for PIGG Gene:

Hs.7099
genes like me logo Genes that share expression patterns with PIGG: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGG Gene

Orthologs for PIGG Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for PIGG Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGG 34 35
  • 99.42 (n)
dog
(Canis familiaris)
Mammalia PIGG 34 35
  • 83.96 (n)
mouse
(Mus musculus)
Mammalia Pigg 34 16 35
  • 81.2 (n)
rat
(Rattus norvegicus)
Mammalia LOC100910143 34
  • 80.87 (n)
cow
(Bos Taurus)
Mammalia PIGG 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 35
  • 73 (a)
OneToMany
-- 35
  • 64 (a)
OneToMany
oppossum
(Monodelphis domestica)
Mammalia PIGG 35
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGG 34 35
  • 70.76 (n)
lizard
(Anolis carolinensis)
Reptilia PIGG 35
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigg 34
  • 64 (n)
zebrafish
(Danio rerio)
Actinopterygii pigg 34
  • 62.27 (n)
PIGG 35
  • 61 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004958 34
  • 44.98 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG2144 34 35
  • 43.53 (n)
worm
(Caenorhabditis elegans)
Secernentea C27A12.9 35
  • 20 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI13 35
  • 19 (a)
OneToMany
LAS21 37
Species where no ortholog for PIGG was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGG Gene

ENSEMBL:
Gene Tree for PIGG (if available)
TreeFam:
Gene Tree for PIGG (if available)

Paralogs for PIGG Gene

(1) SIMAP similar genes for PIGG Gene using alignment to 8 proteins:

genes like me logo Genes that share paralogs with PIGG: view

No data available for Paralogs for PIGG Gene

Variants for PIGG Gene

Sequence variations from dbSNP and Humsavar for PIGG Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs372392424 Mental retardation, autosomal recessive 53 (MRT53) [MIM:616917], Pathogenic 523,849(+) TGCTG(C/T)GCTCC intron-variant, nc-transcript-variant, reference, missense
rs869320772 Pathogenic 515,999(+) ACGTC(C/T)AACAG nc-transcript-variant, upstream-variant-2KB, reference, stop-gained, utr-variant-5-prime
rs869320773 Pathogenic 527,231(+) TCCAA(C/G)TAAGT nc-transcript-variant, splice-donor-variant
rs10016761 -- 510,875(+) tcagc(A/G)tcatt intron-variant
rs10020337 -- 504,078(+) CCCCA(C/T)CCTAG intron-variant

Structural Variations from Database of Genomic Variants (DGV) for PIGG Gene

Variant ID Type Subtype PubMed ID
nsv593204 CNV gain 21841781
nsv593202 CNV gain 21841781
nsv508986 CNV insertion 20534489
nsv469997 CNV gain 18288195
nsv461146 CNV gain 19166990
nsv461145 CNV gain 19166990
nsv1136804 CNV deletion 24896259
nsv1074125 CNV deletion 25765185
nsv1006781 CNV gain 25217958
nsv1001899 CNV loss 25217958
esv3893859 CNV gain 25118596
esv3599372 CNV loss 21293372
esv3599371 CNV loss 21293372
esv2726675 CNV deletion 23290073

Variation tolerance for PIGG Gene

Residual Variation Intolerance Score: 96.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 12.72; 94.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for PIGG Gene

Human Gene Mutation Database (HGMD)
PIGG
SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGG

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for PIGG Gene

Disorders for PIGG Gene

MalaCards: The human disease database

(4) MalaCards diseases for PIGG Gene - From: ClinVar, Swiss-Prot, DISEASES, and GeneCards

Disorder Aliases PubMed IDs
mental retardation, autosomal recessive 53
  • glycosylphosphatidylinositol biosynthesis defect 13
hypotonia
iridogoniodysgenesis, type 2
  • iridogoniodysgenesis, type 1
intellectual disability
- elite association - COSMIC cancer census association via MalaCards
Search PIGG in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGG_HUMAN
  • Mental retardation, autosomal recessive 53 (MRT53) [MIM:616917]: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. Most MRT53 patients manifest severely delayed psychomotor development, hypotonia, and early-onset seizures. Additional features, such as cerebellar hypoplasia and ataxia have been observed in some patients. Note=The disease is caused by mutations affecting the gene represented in this entry. Cells from patients carrying PIGG disease-causing mutations show abnormal accumulation of the GPI precursors H7 and H7 and absence of mature GPI precursor H8, consistent with a loss of function. However, GPI-anchored proteins, including CD59, CD55, CD24 and CD16, are normally expressed at the cell surface of lymphocytes and granulocytes and CD59 exhibits sensitivity to bacterial phosphatidylinositol-specific phospholipase C, suggesting a normal structure. The role of PIGG in MRT53 etiology is not clear. {ECO:0000269 PubMed:26996948}.

Relevant External Links for PIGG

Genetic Association Database (GAD)
PIGG
Human Genome Epidemiology (HuGE) Navigator
PIGG
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
PIGG
genes like me logo Genes that share disorders with PIGG: view

No data available for Genatlas for PIGG Gene

Publications for PIGG Gene

  1. GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol. (PMID: 15632136) Shishioh N. … Kinoshita T. (J. Biol. Chem. 2005) 2 3 4 64
  2. Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia. (PMID: 26996948) Makrythanasis P. … Murakami Y. (Am. J. Hum. Genet. 2016) 3 4 64
  3. Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals. (PMID: 19851296) Oguri M. … Yamada Y. (Am. J. Hypertens. 2010) 3 46 64
  4. Association of genetic variants with hemorrhagic stroke in Japanese individuals. (PMID: 20198315) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2010) 3 46 64
  5. Association of gene polymorphisms with chronic kidney disease in Japanese individuals. (PMID: 19724895) Yoshida T. … Yamada Y. (Int. J. Mol. Med. 2009) 3 46 64

Products for PIGG Gene

Sources for PIGG Gene

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