This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannos... See more...

Aliases for PIGB Gene

Aliases for PIGB Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class B 2 3 5
  • GPI Mannosyltransferase 3 2 3 4
  • Phosphatidylinositol-Glycan Biosynthesis Class B Protein 3 4
  • Dol-P-Man Dependent GPI Mannosyltransferase 2 3
  • Phosphatidylinositol Glycan, Class B 2 3
  • GPI Mannosyltransferase III 3 4
  • GPI-MT-III 3 4
  • PIG-B 3 4
  • EC 2.4.1.- 4
  • EC 2.4.1 52
  • EIEE80 3

External Ids for PIGB Gene

Previous GeneCards Identifiers for PIGB Gene

  • GC15P051169
  • GC15P048658
  • GC15P053190
  • GC15P053327
  • GC15P053398
  • GC15P055611
  • GC15P032437

Summaries for PIGB Gene

Entrez Gene Summary for PIGB Gene

  • This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI) anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This gene is thought to encode a member of a family of dolichol-phosphate-mannose (Dol-P-Man) dependent mannosyltransferases. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGB Gene

PIGB (Phosphatidylinositol Glycan Anchor Biosynthesis Class B) is a Protein Coding gene. Diseases associated with PIGB include Epileptic Encephalopathy, Early Infantile, 80 and Griscelli Syndrome. Among its related pathways are Metabolism of proteins and Glycosylphosphatidylinositol (GPI)-anchor biosynthesis. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring glycosyl groups and mannosyltransferase activity. An important paralog of this gene is ALG9.

UniProtKB/Swiss-Prot Summary for PIGB Gene

  • Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly.

Gene Wiki entry for PIGB Gene

Additional gene information for PIGB Gene

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

Genomics for PIGB Gene

GeneHancer (GH) Regulatory Elements for PIGB Gene

Promoters and enhancers for PIGB Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH15J055318 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE CraniofacialAtlas 535.8 +0.3 336 3.6 EP300 ZBTB40 ZNF217 NRF1 TCF12 POLR2G GTF2E2 PHF8 PHB2 ZFX PIGB PIGBOS1 HSALNG0106066 RAB27A lnc-PIGBOS1-1 DNAAF4
GH15J055275 Promoter/Enhancer 1.7 FANTOM5 Ensembl ENCODE dbSUPER 33.1 -37.7 -37696 10.4 SP1 JUND PHB2 FOS ZNF639 EP300 AFF1 REST RELA MEF2C PIGB RSL24D1 RAB27A RF00001-124 lnc-PIGBOS1-6 lnc-RAB27A-3
GH15J055288 Promoter/Enhancer 2.4 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 12.8 -29.3 -29264 3.2 CTCF NRF1 POLR2G USF1 BCLAF1 GTF2E2 PHF8 PHB2 ZFX POLR2A RAB27A ENSG00000276533 lnc-PIGBOS1-6 PIGB DNAAF4 CCPG1 lnc-PIGBOS1-1
GH15J055265 Promoter/Enhancer 1.5 FANTOM5 Ensembl ENCODE dbSUPER 16.9 -51.3 -51337 4.6 JUND FOS RBM25 LEF1 ZNF316 ZBTB17 PBX2 NBN SPI1 USF1 PIGB RAB27A DNAAF4 RF00001-124 lnc-PIGBOS1-6 RSL24D1 lnc-RAB27A-3
GH15J055194 Promoter/Enhancer 2.3 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 10.3 -122.8 -122764 4.6 FOXK2 ZBTB40 ZNF217 EP300 CTCF SIN3A NRF1 TCF12 MYC POLR2G RSL24D1 lnc-RAB27A-3 PIGBOS1 RAB27A PIGB C15orf65 ENSG00000279145 lnc-PIGB-2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGB on UCSC Golden Path with GeneCards custom track

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

Top Transcription factor binding sites by QIAGEN in the PIGB gene promoter:
  • c-Rel
  • C/EBPbeta
  • FOXO1
  • FOXO1a
  • NRSF form 2
  • RelA
  • STAT5A
  • Zic1
  • ZID

Genomic Locations for PIGB Gene

Genomic Locations for PIGB Gene
chr15:55,318,865-55,355,648
(GRCh38/hg38)
Size:
36,784 bases
Orientation:
Plus strand
chr15:55,611,133-55,647,846
(GRCh37/hg19)
Size:
36,714 bases
Orientation:
Plus strand

Genomic View for PIGB Gene

Genes around PIGB on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGB Gene

Proteins for PIGB Gene

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

    Protein Symbol:
    Q92521-PIGB_HUMAN
    Recommended name:
    GPI mannosyltransferase 3
    Protein Accession:
    Q92521
    Secondary Accessions:
    • Q53FF9
    • Q8WVN7

    Protein attributes for PIGB Gene

    Size:
    554 amino acids
    Molecular mass:
    65056 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PIGB Gene

Selected DME Specific Peptides for PIGB Gene

Q92521:
  • DEYWQSLE
  • YYPLEGS
  • HKEFRFIYPVLPFCM
  • FYGSHPWHWY
  • THLPFFIHGC
  • MPCHSTP
  • TRTLTNTME

Post-translational modifications for PIGB Gene

  • Glycosylation at Asn26 and Asn427
  • Modification sites at PhosphoSitePlus

Domains & Families for PIGB Gene

Protein Domains for PIGB Gene

Blocks:
  • Plasmid Maintenance Protein
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGB Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-glycan biosynthesis class B protein (PIGB_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q92521

UniProtKB/Swiss-Prot:

PIGB_HUMAN :
  • Belongs to the glycosyltransferase 22 family. PIGB subfamily.
Family:
  • Belongs to the glycosyltransferase 22 family. PIGB subfamily.
genes like me logo Genes that share domains with PIGB: view

Function for PIGB Gene

Molecular function for PIGB Gene

UniProtKB/Swiss-Prot Function:
Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the third alpha-1,2-mannose to Man2-GlcN-acyl-PI during GPI precursor assembly.
GENATLAS Biochemistry:
glycosyl-phosphatidylinositol (GPI) anchor synthesis,class B

Enzyme Numbers (IUBMB) for PIGB Gene

Phenotypes From GWAS Catalog for PIGB Gene

Gene Ontology (GO) - Molecular Function for PIGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000030 mannosyltransferase activity IDA 8861954
GO:0004376 glycolipid mannosyltransferase activity TAS --
GO:0016740 transferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IEA --
genes like me logo Genes that share ontologies with PIGB: view
genes like me logo Genes that share phenotypes with PIGB: view

Animal Model Products

  • Taconic Biosciences Mouse Models for PIGB

CRISPR Products

miRNA for PIGB Gene

miRTarBase miRNAs that target PIGB

Clone Products

  • Addgene plasmids for PIGB

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

Localization for PIGB Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGB 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 PIGB gene
Compartment Confidence
endoplasmic reticulum 5
plasma membrane 4
peroxisome 2
cytosol 2
extracellular 1
nucleus 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (1)
  • Plasma membrane (1)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IBA,IEA 21873635
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA,NAS 8861954
genes like me logo Genes that share ontologies with PIGB: view

Pathways & Interactions for PIGB Gene

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

UniProtKB/Swiss-Prot Q92521-PIGB_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA,IDA 8861954
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
GO:0097502 mannosylation IDA,IEA 8861954
genes like me logo Genes that share ontologies with PIGB: view

No data available for SIGNOR curated interactions for PIGB Gene

Drugs & Compounds for PIGB Gene

(7) Drugs for PIGB Gene - From: PharmGKB and HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Cyclophosphamide Approved, Investigational Pharma Nitrogen mustard alkylating agent and prodrug. 3570
Epirubicin Approved Pharma 468
Fluorouracil Approved Pharma RNA processing inhibitor and thymidylate synthase inhibitor 2258
Phytosphingosine Experimental Pharma 0
Sphingosine Experimental Pharma 0

(893) Additional Compounds for PIGB 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 PIGB: view

Transcripts for PIGB Gene

mRNA/cDNA for PIGB Gene

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

CRISPR Products

Clone Products

  • Addgene plasmids for PIGB

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

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8 ^ 9a · 9b ^ 10 ^ 11 ^ 12 ^ 13a · 13b ^ 14
SP1: -
SP2: -
SP3: -
SP4: - - - -
SP5:
SP6:
SP7:

Relevant External Links for PIGB Gene

GeneLoc Exon Structure for
PIGB

Expression for PIGB Gene

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

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGB Gene

This gene is overexpressed in Testis (42.6) and Placenta (22.5).

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



Protein tissue co-expression partners for PIGB Gene

- Elite partner

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

SOURCE GeneReport for Unigene cluster for PIGB Gene:

Hs.612814
genes like me logo Genes that share expression patterns with PIGB: view

No data available for mRNA differential expression in normal tissues , mRNA Expression by UniProt/SwissProt , Evidence on tissue expression from TISSUES and Phenotype-based relationships between genes and organs from Gene ORGANizer for PIGB Gene

Orthologs for PIGB Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia PIGB 31 30
  • 99.58 (n)
OneToOne
cow
(Bos Taurus)
Mammalia PIGB 31 30
  • 89.78 (n)
OneToOne
dog
(Canis familiaris)
Mammalia PIGB 31 30
  • 89.4 (n)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pigb 30
  • 80.48 (n)
mouse
(Mus musculus)
Mammalia Pigb 17 31 30
  • 78.82 (n)
oppossum
(Monodelphis domestica)
Mammalia PIGB 31
  • 78 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia PIGB 31
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves PIGB 31 30
  • 69.83 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia PIGB 31
  • 53 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia pigb 30
  • 67.51 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.10358 30
zebrafish
(Danio rerio)
Actinopterygii pigb 31 30
  • 58.54 (n)
OneToOne
zgc63658 30
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP003792 30
  • 49.86 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG12006 31 32 30
  • 48.95 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea T27F7.3a 32
  • 36 (a)
T27F7.4 31
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes GPI10 33 31
  • 25 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G14850 30
  • 51.39 (n)
rice
(Oryza sativa)
Liliopsida Os01g0580100 30
  • 49.56 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 40 (a)
OneToOne
Species where no ortholog for PIGB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • 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 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 PIGB Gene

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

Paralogs for PIGB Gene

Paralogs for PIGB Gene

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

Variants for PIGB Gene

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

SNP ID Clinical significance and condition Chr 15 pos Variation AA Info Type
689514 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 55,320,323(+) G/A MISSENSE_VARIANT
689515 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 55,350,737(+) G/C MISSENSE_VARIANT
689516 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 55,340,621(+) G/C MISSENSE_VARIANT
689517 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 55,333,908(+) G/A MISSENSE_VARIANT
689519 Pathogenic: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80 55,340,602(+) A/G INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for PIGB Gene

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

Variant ID Type Subtype PubMed ID
esv2761899 CNV gain+loss 21179565
esv3333010 CNV insertion 20981092
esv3569598 CNV gain 25503493
nsv1036924 CNV loss 25217958
nsv1043789 CNV gain 25217958
nsv520799 CNV loss 19592680
nsv569523 CNV gain 21841781
nsv569524 CNV loss 21841781

Variation tolerance for PIGB Gene

Residual Variation Intolerance Score: 71.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 8.27; 85.12% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGB Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
PIGB

SNP Genotyping and Copy Number Assay Products

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

Disorders for PIGB Gene

MalaCards: The human disease database

(5) MalaCards diseases for PIGB Gene - From: OMIM, ClinVar, DISEASES, and GeneCards

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

Additional Disease Information for PIGB

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 PIGB: view

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

Publications for PIGB Gene

  1. PIG-B, a membrane protein of the endoplasmic reticulum with a large lumenal domain, is involved in transferring the third mannose of the GPI anchor. (PMID: 8861954) Takahashi M … Kinoshita T (The EMBO journal 1996) 2 3 4 23 54
  2. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PMID: 20379614) Rose JE … Uhl GR (Molecular medicine (Cambridge, Mass.) 2010) 3 41 54
  3. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard DS … MGC Project Team (Genome research 2004) 3 4 54
  4. Glycoinositol phospholipid anchor-defective K562 mutants with biochemical lesions distinct from those in Thy-1- murine lymphoma mutants. (PMID: 7907094) Mohney RP … Medof ME (The Journal of biological chemistry 1994) 3 4 54
  5. VIRMA mediates preferential m6A mRNA methylation in 3'UTR and near stop codon and associates with alternative polyadenylation. (PMID: 29507755) Yue Y … Liu J (Cell discovery 2018) 3 54

Products for PIGB Gene

Sources for PIGB Gene