This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to... See more...

Aliases for PIGF Gene

Aliases for PIGF Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class F 2 3 5
  • Phosphatidylinositol-Glycan Biosynthesis Class F Protein 3 4
  • GPI11 Homolog 3 4
  • PIG-F 3 4
  • Phosphatidylinositol Glycan, Class F 2

External Ids for PIGF Gene

Previous GeneCards Identifiers for PIGF Gene

  • GC02M046826
  • GC02M046977
  • GC02M046782
  • GC02M046720
  • GC02M046661
  • GC02M046808
  • GC02M046545

Summaries for PIGF Gene

Entrez Gene Summary for PIGF Gene

  • This gene encodes a protein involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor, a glycolipid containing three mannose molecules in its core backbone, is found on many blood cells where it serves to anchor proteins to the cell surface. The encoded protein and another GPI synthesis protein, PIGO, function in the transfer of ethanolaminephosphate to the third mannose in GPI. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGF Gene

PIGF (Phosphatidylinositol Glycan Anchor Biosynthesis Class F) is a Protein Coding gene. Diseases associated with PIGF include Short Stature With Microcephaly And Distinctive Facies and Pre-Eclampsia. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (GO) annotations related to this gene include ethanolaminephosphotransferase activity.

UniProtKB/Swiss-Prot Summary for PIGF Gene

  • Involved in GPI-anchor biosynthesis through the transfer of ethanolamine phosphate to the third mannose of GPI.

Gene Wiki entry for PIGF Gene

Additional gene information for PIGF Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for PIGF Gene

Genomics for PIGF Gene

GeneHancer (GH) Regulatory Elements for PIGF Gene

Promoters and enhancers for PIGF Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGF on UCSC Golden Path with GeneCards custom track

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for PIGF

Top Transcription factor binding sites by QIAGEN in the PIGF gene promoter:
  • aMEF-2
  • AML1a
  • AP-2alpha
  • AP-2alphaA
  • AP-2beta
  • AP-2gamma
  • ATF-2
  • FOXF2
  • FOXO3b
  • MEF-2A

Genomic Locations for PIGF Gene

Genomic Locations for PIGF Gene
chr2:46,580,937-46,617,112
(GRCh38/hg38)
Size:
36,176 bases
Orientation:
Minus strand
chr2:46,808,076-46,844,258
(GRCh37/hg19)
Size:
36,183 bases
Orientation:
Minus strand

Genomic View for PIGF Gene

Genes around PIGF on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGF Gene

Proteins for PIGF Gene

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

    Protein Symbol:
    Q07326-PIGF_HUMAN
    Recommended name:
    Phosphatidylinositol-glycan biosynthesis class F protein
    Protein Accession:
    Q07326
    Secondary Accessions:
    • Q8WW20

    Protein attributes for PIGF Gene

    Size:
    219 amino acids
    Molecular mass:
    24890 Da
    Quaternary structure:
    • Forms a complex with PIGG and PIGO. PIGF is required to stabilize PIGG and PIGO.

    Alternative splice isoforms for PIGF Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for PIGF Gene

Post-translational modifications for PIGF Gene

No Post-translational modifications

Other Protein References for PIGF Gene

No data available for DME Specific Peptides for PIGF Gene

Domains & Families for PIGF Gene

Gene Families for PIGF Gene

Protein Domains for PIGF Gene

Suggested Antigen Peptide Sequences for PIGF Gene

GenScript: Design optimal peptide antigens:
  • GPI11 homolog (PIGF_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q07326

UniProtKB/Swiss-Prot:

PIGF_HUMAN :
  • Belongs to the PIGF family.
Family:
  • Belongs to the PIGF family.
genes like me logo Genes that share domains with PIGF: view

Function for PIGF Gene

Molecular function for PIGF Gene

UniProtKB/Swiss-Prot Function:
Involved in GPI-anchor biosynthesis through the transfer of ethanolamine phosphate to the third mannose of GPI.
GENATLAS Biochemistry:
glycosyl-phosphatidylinositol (GPI),anchor synthesis,24.9kDa,class F

Phenotypes From GWAS Catalog for PIGF Gene

Gene Ontology (GO) - Molecular Function for PIGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004307 ethanolaminephosphotransferase activity TAS 8463218
genes like me logo Genes that share ontologies with PIGF: view
genes like me logo Genes that share phenotypes with PIGF: view

Animal Models for PIGF Gene

MGI Knock Outs for PIGF:
  • Pigf Pigf<tm1a(KOMP)Wtsi>

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGF

CRISPR Products

miRNA for PIGF Gene

miRTarBase miRNAs that target PIGF

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGF

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for PIGF Gene

Localization for PIGF Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGF 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 PIGF gene
Compartment Confidence
endoplasmic reticulum 4
plasma membrane 2
extracellular 1
cytoskeleton 1
lysosome 0

Gene Ontology (GO) - Cellular Components for PIGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with PIGF: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for PIGF Gene

Pathways & Interactions for PIGF Gene

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

UniProtKB/Swiss-Prot Q07326-PIGF_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGF Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process TAS,ISS --
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGF: view

No data available for SIGNOR curated interactions for PIGF Gene

Drugs & Compounds for PIGF Gene

(9) Drugs for PIGF Gene - From: DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Aflibercept Approved Pharma inhibitor Vascular endothelial growth factor (VEGF) and VEGF receptor (VEGFR) inhibitors 0
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0
ziv-aflibercept Pharma antibody Therapeutic Antibodies 0
sphinganine Pharma 0

(895) Additional Compounds for PIGF Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
3-Dehydrosphinganine
  • 3-dehydro-D-Sphinganine
  • 3-Ketodihydrosphingosine
  • 3-Ketosphinganine
  • (2S)-2-amino-1-Hydroxyoctadecan-3-one
  • 1-Hydroxy-2-amino-3-oxo-octadecane
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 PIGF: view

Transcripts for PIGF Gene

mRNA/cDNA for PIGF Gene

2 REFSEQ mRNAs :
5 NCBI additional mRNA sequence :
7 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for PIGF

Clone Products

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

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6
SP1: -
SP2: -
SP3:

Relevant External Links for PIGF Gene

GeneLoc Exon Structure for
PIGF

Expression for PIGF Gene

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

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for PIGF

SOURCE GeneReport for Unigene cluster for PIGF Gene:

Hs.468415

Evidence on tissue expression from TISSUES for PIGF Gene

  • Heart(2.5)
genes like me logo Genes that share expression patterns with PIGF: view

No data available for mRNA differential expression in normal tissues , Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGF Gene

Orthologs for PIGF Gene

This gene was present in the common ancestor of chordates.

Orthologs for PIGF Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGF 31 30
  • 99.7 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIGF 31 30
  • 93.46 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIGF 31 30
  • 91.78 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Pigf 17 31 30
  • 86.45 (n)
rat
(Rattus norvegicus)
Mammalia Pigf 30
  • 85.84 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGF 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGF 31
  • 6 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGF 31 30
  • 70.62 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGF 31
  • 70 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigf 30
  • 63.93 (n)
Str.8112 30
African clawed frog
(Xenopus laevis)
Amphibia Xl.1780 30
zebrafish
(Danio rerio)
Actinopterygii pigf 31 30
  • 59.14 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2777 30
Species where no ortholog for PIGF was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • 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)
  • worm (Caenorhabditis elegans)

Evolution for PIGF Gene

ENSEMBL:
Gene Tree for PIGF (if available)
TreeFam:
Gene Tree for PIGF (if available)
Aminode:
Evolutionary constrained regions (ECRs) for PIGF: view image

Paralogs for PIGF Gene

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

No data available for Paralogs for PIGF Gene

Variants for PIGF Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for PIGF Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
221619 Pathogenic: Short stature with microcephaly and distinctive facies 46,616,860(-) CGGCGAGCGCCGGCGG

Additional dbSNP identifiers (rs#s) for PIGF Gene

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

Variant ID Type Subtype PubMed ID
dgv149e55 CNV loss 17911159
esv2759046 CNV loss 17122850
nsv1009735 CNV loss 25217958
nsv521013 CNV loss 19592680
nsv961403 CNV duplication 23825009

Variation tolerance for PIGF Gene

Residual Variation Intolerance Score: 75.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.70; 32.38% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGF Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIGF Gene

MalaCards: The human disease database

(2) MalaCards diseases for PIGF Gene - From: Novoseek and GeneCards

Disorder Aliases PubMed IDs
short stature with microcephaly and distinctive facies
  • ssmcf
pre-eclampsia
  • toxemia of pregnancy
- elite association - COSMIC cancer census association via MalaCards
Search PIGF in MalaCards View complete list of genes associated with diseases

Additional Disease Information for PIGF

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

No data available for UniProtKB/Swiss-Prot and Genatlas for PIGF Gene

Publications for PIGF Gene

  1. Cloning of a human gene, PIG-F, a component of glycosylphosphatidylinositol anchor biosynthesis, by a novel expression cloning strategy. (PMID: 8463218) Inoue N … Takeda J (The Journal of biological chemistry 1993) 2 3 4 23 54
  2. Structure and chromosomal localization of the GPI-anchor synthesis gene PIGF and its pseudogene psi PIGF. (PMID: 8575782) Ohishi K … Kinoshita T (Genomics 1995) 2 3 23 54
  3. Genome-wide association study of anthropometric traits and evidence of interactions with age and study year in Filipino women. (PMID: 20966902) Croteau-Chonka DC … Mohlke KL (Obesity (Silver Spring, Md.) 2011) 3 41 54
  4. Identification of type 2 diabetes-associated combination of SNPs using support vector machine. (PMID: 20416077) Ban HJ … Park KJ (BMC genetics 2010) 3 41 54
  5. GPI7 is the second partner of PIG-F and involved in modification of glycosylphosphatidylinositol. (PMID: 15632136) Shishioh N … Kinoshita T (The Journal of biological chemistry 2005) 3 4 54

Products for PIGF Gene

Sources for PIGF Gene