PIGV Gene

HGNC Family	Glycosyltransferases, Phosphatidylinositol glycan anchor biosynthesis (PIG)
Name	phosphatidylinositol glycan anchor biosynthesis, class V
Description	This gene encodes a mannosyltransferase enzyme involved in the biosynthesis of glycosylphosphatidylinositol (GPI). GPI is a complex glycolipid that functions as a membrane anchor for many proteins and plays a role in multiple cellular processes including protein sorting and signal transduction. The encoded protein is localized to the endoplasmic reticulum and transfers the second mannose to the GPI backbone. Mutations in this gene are associated with hyperphosphatasia cognitive disability syndrome. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Feb 2011]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nThe gene PIGV has been identified as a critical factor in hyperphosphatasia‐mental retardation syndrome (HPMR), a rare autosomal recessive condition characterized by intellectual disability, distinctive facial features, brachytelephalangy, and increased serum alkaline phosphatase levels. Exome sequencing and genetic studies in multiple families have revealed homozygous or compound heterozygous mutations in PIGV as the molecular basis for this syndrome, thereby establishing it as an integral component of the GPI‐anchor biosynthesis pathway."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "4"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nFunctionally, PIGV encodes a mannosyltransferase localized to the endoplasmic reticulum that is essential for proper glycosylphosphatidylinositol (GPI) anchor assembly. More specifically, PIGV mediates the transfer of the second mannose from dolichol-phosphate-mannose to the GPI precursor, a vital step that ensures the structural integrity of the mature GPI anchor. Experimental studies further demonstrate that when PIGV activity is compromised, cells accumulate incomplete GPI intermediates and misprocess GPI-anchored proteins such as alkaline phosphatase, leading to their aberrant secretion."}, {"type": "fg", "children": [{"type": "fg_f", "ref": "5"}]}, {"type": "t", "text": "\n"}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nCollectively, these investigations underline that PIGV is a pivotal, and under conditions of limited dolichol-phosphate mannose, even a rate-limiting, enzyme in GPI biosynthesis. Its dysfunction not only disrupts the normal anchoring and cell surface expression of a wide array of proteins but also triggers downstream clinical manifestations such as hyperphosphatasia due to the mislocalization and secretion of enzymes normally tethered to the membrane. This integrated view of PIGV’s biochemical function and its pathogenic consequences provides key insights into the molecular etiology of HPMR."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "6"}]}, {"type": "t", "text": "\n"}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Peter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Nat Genet (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ng.653"}], "href": "https://doi.org/10.1038/ng.653"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20802478"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20802478"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Yoshiko Murakami, Noriyuki Kanzawa, Kazunobu Saito, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Mechanism for release of alkaline phosphatase caused by glycosylphosphatidylinositol deficiency in patients with hyperphosphatasia mental retardation syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M111.331090"}], "href": "https://doi.org/10.1074/jbc.M111.331090"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22228761"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22228761"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Denise Horn, Peter Krawitz, Anca Mannhardt, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Hyperphosphatasia-mental retardation syndrome due to PIGV mutations: expanded clinical spectrum."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Am J Med Genet A (2011)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/ajmg.a.34102"}], "href": "https://doi.org/10.1002/ajmg.a.34102"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "21739589"}], "href": "https://pubmed.ncbi.nlm.nih.gov/21739589"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Denise Horn, Dagmar Wieczorek, Kay Metcalfe, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Eur J Hum Genet (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1038/ejhg.2013.241"}], "href": "https://doi.org/10.1038/ejhg.2013.241"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24129430"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24129430"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Ji Young Kang, Yeongjin Hong, Hisashi Ashida, et al. "}, {"type": "b", "children": [{"type": "t", "text": "PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biol Chem (2005)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1074/jbc.M413867200"}], "href": "https://doi.org/10.1074/jbc.M413867200"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "15623507"}], "href": "https://pubmed.ncbi.nlm.nih.gov/15623507"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Tetsuya Hirata, Morihisa Fujita, Noriyuki Kanzawa, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Biochem (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1093/jb/mvt045"}], "href": "https://doi.org/10.1093/jb/mvt045"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23694781"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23694781"}]}]}]}
Synonyms	GPI-MT-II, PIG-V, HPMRS1
Proteins	PIGV_HUMAN
NCBI Gene ID	55650
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

PIGV has 6,373 functional associations with biological entities spanning 9 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA, sequence feature) extracted from 108 datasets.

Click the + buttons to view associations for PIGV from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

PIGV Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PIGV gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of PIGV gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles	tissue samples with high or low expression of PIGV gene relative to other tissue samples from the Allen Brain Atlas Aging Dementia and Traumatic Brain Injury Tissue Sample Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of PIGV gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of PIGV gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of PIGV gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of PIGV gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PIGV gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of PIGV gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of PIGV gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of PIGV gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with PIGV gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PIGV gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of PIGV gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of PIGV gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with PIGV gene from the curated ClinVar Gene-Phenotype Associations dataset.
	ClinVar Gene-Phenotype Associations 2025	phenotypes associated with PIGV gene from the curated ClinVar Gene-Phenotype Associations 2025 dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of PIGV gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing PIGV protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores 2025	cellular components containing PIGV protein from the COMPARTMENTS Curated Protein Localization Evidence Scores 2025 dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with PIGV protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with PIGV protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of PIGV gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with PIGV gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Chemical Interactions	chemicals interacting with PIGV gene/protein from the curated CTD Gene-Chemical Interactions dataset.
	CTD Gene-Disease Associations	diseases associated with PIGV gene/protein from the curated CTD Gene-Disease Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by PIGV gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving PIGV gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving PIGV gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with PIGV gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with PIGV gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with PIGV gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with PIGV gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with PIGV gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at PIGV gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of PIGV gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of PIGV gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing PIGV from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of PIGV gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.
	GeneRIF Biological Term Annotations	biological terms co-occuring with PIGV gene in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.