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 seco... See more...

Aliases for PIGV Gene

Aliases for PIGV Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class V 2 3 5
  • GPI Mannosyltransferase 2 2 3 4
  • Dol-P-Man Dependent GPI Mannosyltransferase 2 3
  • GPI Mannosyltransferase II 3 4
  • GPI-MT-II 3 4
  • PIG-V 3 4
  • Phosphatidylinositol-Glycan Biosynthesis Class V Protein 4
  • Phosphatidylinositol Glycan, Class V 2
  • Ybr004c Homolog 3
  • EC 2.4.1.- 4
  • HPMRS1 3

External Ids for PIGV Gene

Previous GeneCards Identifiers for PIGV Gene

  • GC01P026799
  • GC01P026987
  • GC01P027113
  • GC01P025367

Summaries for PIGV Gene

Entrez Gene Summary for PIGV Gene

  • 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]

GeneCards Summary for PIGV Gene

PIGV (Phosphatidylinositol Glycan Anchor Biosynthesis Class V) is a Protein Coding gene. Diseases associated with PIGV include Hyperphosphatasia With Mental Retardation Syndrome 1 and Hyperphosphatasia-Intellectual Disability Syndrome. Among its related pathways are Metabolism and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and mannosyltransferase activity.

UniProtKB/Swiss-Prot Summary for PIGV Gene

  • Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.

Gene Wiki entry for PIGV Gene

Additional gene information for PIGV Gene

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

Genomics for PIGV Gene

GeneHancer (GH) Regulatory Elements for PIGV Gene

Promoters and enhancers for PIGV 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 PIGV on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the PIGV gene promoter:
  • AP-1
  • CBF(2)
  • GATA-2
  • NF-1
  • NF-1/L
  • NF-Y
  • p53
  • Pax-4a
  • RORalpha2
  • TBP

Genomic Locations for PIGV Gene

Genomic Locations for PIGV Gene
chr1:26,787,472-26,798,403
(GRCh38/hg38)
Size:
10,932 bases
Orientation:
Plus strand
chr1:27,113,963-27,124,894
(GRCh37/hg19)
Size:
10,932 bases
Orientation:
Plus strand

Genomic View for PIGV Gene

Genes around PIGV on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGV Gene

Proteins for PIGV Gene

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

    Protein Symbol:
    Q9NUD9-PIGV_HUMAN
    Recommended name:
    GPI mannosyltransferase 2
    Protein Accession:
    Q9NUD9
    Secondary Accessions:
    • D3DPL2
    • Q5JYG7
    • Q5JYG8
    • Q5JYG9
    • Q9NX26

    Protein attributes for PIGV Gene

    Size:
    493 amino acids
    Molecular mass:
    55713 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PIGV Gene

Post-translational modifications for PIGV Gene

Other Protein References for PIGV Gene

No data available for DME Specific Peptides for PIGV Gene

Domains & Families for PIGV Gene

Gene Families for PIGV Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for PIGV Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGV Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ51354, highly similar to GPI mannosyltransferase 2 (EC 2.4.1.-) (B4DWP9_HUMAN)
  • Phosphatidylinositol-glycan biosynthesis class V protein (PIGV_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9NUD9

UniProtKB/Swiss-Prot:

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

Function for PIGV Gene

Molecular function for PIGV Gene

UniProtKB/Swiss-Prot Function:
Alpha-1,6-mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the second mannose to the glycosylphosphatidylinositol during GPI precursor assembly.

Enzyme Numbers (IUBMB) for PIGV Gene

Phenotypes From GWAS Catalog for PIGV Gene

Gene Ontology (GO) - Molecular Function for PIGV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IMP 15623507
GO:0004376 glycolipid mannosyltransferase activity TAS --
GO:0004584 dolichyl-phosphate-mannose-glycolipid alpha-mannosyltransferase activity IEA --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with PIGV: view
genes like me logo Genes that share phenotypes with PIGV: view

Human Phenotype Ontology for PIGV Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGV

CRISPR Products

Clone Products

  • Addgene plasmids for PIGV

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for PIGV Gene

Localization for PIGV Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGV 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 PIGV gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 3
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Endoplasmic reticulum (3)
  • Cytosol (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIGV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 15623507
GO:0031501 mannosyltransferase complex IBA 21873635
genes like me logo Genes that share ontologies with PIGV: view

Pathways & Interactions for PIGV Gene

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

UniProtKB/Swiss-Prot Q9NUD9-PIGV_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Interacting Proteins for PIGV Gene

Gene Ontology (GO) - Biological Process for PIGV Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IMP,IEA 15623507
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0097502 mannosylation IEA --
genes like me logo Genes that share ontologies with PIGV: view

No data available for SIGNOR curated interactions for PIGV Gene

Drugs & Compounds for PIGV Gene

(4) Drugs for PIGV Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Phytosphingosine Experimental Pharma 0
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

(893) Additional Compounds for PIGV Gene - From: HMDB

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 PIGV: view

Transcripts for PIGV Gene

mRNA/cDNA for PIGV Gene

CRISPR Products

Clone Products

  • Addgene plasmids for PIGV

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

ExUns: 1 ^ 2a · 2b ^ 3a · 3b · 3c ^ 4a · 4b · 4c · 4d ^ 5 ^ 6a · 6b ^ 7 ^ 8a · 8b · 8c · 8d · 8e · 8f · 8g · 8h ^ 9 ^ 10
SP1: - - - - -
SP2: - -
SP3: - - - -
SP4: - - - - - - - - - - -
SP5: - - - - - - - - -
SP6: - - - - - -
SP7: - - - -
SP8: - - -
SP9: -
SP10: - - - - - - - -

Relevant External Links for PIGV Gene

GeneLoc Exon Structure for
PIGV
ECgene alternative splicing isoforms for
PIGV

Expression for PIGV Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGV Gene

This gene is overexpressed in Ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for PIGV Gene



Protein tissue co-expression partners for PIGV Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of PIGV Gene:

PIGV

SOURCE GeneReport for Unigene cluster for PIGV Gene:

Hs.259605

Evidence on tissue expression from TISSUES for PIGV Gene

  • Lung(4.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGV Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cheek
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
  • tooth
Thorax:
  • heart
Abdomen:
  • biliary tract
  • intestine
  • kidney
  • large intestine
  • liver
Pelvis:
  • anus
  • rectum
Limb:
  • digit
  • finger
  • foot
  • hand
  • lower limb
  • nail
  • toe
  • upper limb
General:
  • hair
  • skin
genes like me logo Genes that share expression patterns with PIGV: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for PIGV Gene

Orthologs for PIGV Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGV Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGV 32
  • 97.11 (n)
cow
(Bos Taurus)
Mammalia PIGV 33 32
  • 88.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ZDHHC18 32
  • 87.63 (n)
PIGV 33
  • 83 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigv 32
  • 83.06 (n)
mouse
(Mus musculus)
Mammalia Pigv 17 33 32
  • 82.34 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGV 33
  • 65 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGV 33
  • 63 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGV 33 32
  • 62.1 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGV 33
  • 56 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigv 32
  • 54.41 (n)
zebrafish
(Danio rerio)
Actinopterygii pigv 32
  • 55.33 (n)
zdhhc18a 33
  • 48 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta veg 33 32
  • 48.49 (n)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP001339 32
  • 47.99 (n)
worm
(Caenorhabditis elegans)
Secernentea T09B4.1 33 32
  • 45.97 (n)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G11880 32
  • 46.52 (n)
rice
(Oryza sativa)
Liliopsida Os12g0498700 32
  • 45.07 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes gpi18 32
  • 42.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 36 (a)
OneToOne
Species where no ortholog for PIGV 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)
  • 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)
  • 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 blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for PIGV Gene

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

Paralogs for PIGV Gene

No data available for Paralogs for PIGV Gene

Variants for PIGV Gene

Sequence variations from dbSNP and Humsavar for PIGV Gene

SNP ID Clin Chr 01 pos Variation AA Info Type
rs1057515437 uncertain-significance, Hyperphosphatasia-intellectual disability syndrome 26,795,042(+) A/G coding_sequence_variant, missense_variant
rs1057515439 uncertain-significance, Hyperphosphatasia-intellectual disability syndrome 26,797,954(+) T/C 3_prime_UTR_variant
rs1057515440 uncertain-significance, Hyperphosphatasia-intellectual disability syndrome 26,798,030(+) G/T 3_prime_UTR_variant
rs1057515441 uncertain-significance, Hyperphosphatasia-intellectual disability syndrome 26,798,297(+) A/T 3_prime_UTR_variant
rs1057515474 uncertain-significance, Hyperphosphatasia-intellectual disability syndrome 26,794,565(+) A/G/T coding_sequence_variant, synonymous_variant

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

Variant ID Type Subtype PubMed ID
nsv1000012 CNV gain 25217958

Variation tolerance for PIGV Gene

Residual Variation Intolerance Score: 26.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.46; 28.53% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGV Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIGV Gene

MalaCards: The human disease database

(7) MalaCards diseases for PIGV Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards

- elite association - COSMIC cancer census association via MalaCards
Search PIGV in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

PIGV_HUMAN
  • Hyperphosphatasia with mental retardation syndrome 1 (HPMRS1) [MIM:239300]: A severe syndrome characterized by elevated serum alkaline phosphatase, severe mental retardation, seizures, hypotonia, facial dysmorphism, and hypoplastic terminal phalanges. {ECO:0000269 PubMed:20802478}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Additional Disease Information for PIGV

genes like me logo Genes that share disorders with PIGV: view

No data available for Genatlas for PIGV Gene

Publications for PIGV Gene

  1. PIG-V involved in transferring the second mannose in glycosylphosphatidylinositol. (PMID: 15623507) Kang JY … Kinoshita T (The Journal of biological chemistry 2005) 2 3 4 56
  2. Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome. (PMID: 20802478) Krawitz PM … Robinson PN (Nature genetics 2010) 3 4 56
  3. The DNA sequence and biological annotation of human chromosome 1. (PMID: 16710414) Gregory SG … Prigmore E (Nature 2006) 3 4 56
  4. Saccharomyces cerevisiae Ybr004c and its human homologue are required for addition of the second mannose during glycosylphosphatidylinositol precursor assembly. (PMID: 15720390) Fabre AL … Taron CH (The FEBS journal 2005) 3 4 56
  5. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4 56

Products for PIGV Gene

Sources for PIGV Gene