PIGN Gene (Protein Coding)

Phosphatidylinositol Glycan Anchor Biosynthesis Class N

GC18M061905
GIFtS:
41
This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced varian... See more...

Aliases for PIGN Gene

Aliases for PIGN Gene

  • Phosphatidylinositol Glycan Anchor Biosynthesis Class N 2 3 5
  • PIG-N 2 3 4
  • MCD4 2 3 4
  • Phosphatidylinositol-Glycan Biosynthesis Class N Protein 3 4
  • GPI Ethanolamine Phosphate Transferase 1 3 4
  • MCD4 Homolog 3 4
  • Phosphatidylinositol Glycan, Class N 2
  • EC 2.-.-.- 4
  • MCAHS1 3
  • MCAHS 3
  • MDC4 3
  • PIGN 5

External Ids for PIGN Gene

Previous GeneCards Identifiers for PIGN Gene

  • GC18M059550
  • GC18M059684
  • GC18M057860
  • GC18M057862
  • GC18M056421
  • GC18M062043

Summaries for PIGN Gene

Entrez Gene Summary for PIGN Gene

  • This gene encodes a protein that is involved in glycosylphosphatidylinositol (GPI)-anchor biosynthesis. The GPI-anchor is a glycolipid found on many blood cells and serves to anchor proteins to the cell surface. This protein is expressed in the endoplasmic reticulum and transfers phosphoethanolamine (EtNP) to the first mannose of the GPI anchor. Two alternatively spliced variants, which encode an identical isoform, have been reported. [provided by RefSeq, Jul 2008]

GeneCards Summary for PIGN Gene

PIGN (Phosphatidylinositol Glycan Anchor Biosynthesis Class N) is a Protein Coding gene. Diseases associated with PIGN include Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 and Fryns Syndrome. Among its related pathways are Metabolism of proteins and Metabolism. Gene Ontology (GO) annotations related to this gene include transferase activity and sulfuric ester hydrolase activity.

UniProtKB/Swiss-Prot Summary for PIGN Gene

  • Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.

Additional gene information for PIGN Gene

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

Genomics for PIGN Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for PIGN 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
GH18J062185 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 286.4 -0.8 -783 5 CHD2 ZBTB10 SP1 MNT IKZF1 BRCA1 SMAD5 MBD2 POLR2A ZEB1 PIGN RELCH lnc-RNF152-6 CDH20 PHLPP1 TNFRSF11A ENSG00000266900
GH18J062323 Promoter/Enhancer 2.1 EPDnew FANTOM5 Ensembl ENCODE CraniofacialAtlas 15.3 -140.2 -140241 7.7 ZSCAN16 ZBTB10 FEZF1 CTCF ZIC2 KLF7 ZNF341 EBF1 GABPB1 RAD21 TNFRSF11A PIGN ZCCHC2 RELCH ENSG00000267560 ENSG00000199867 HSALNG0121974 NONHSAG024039.2
GH18J062201 Enhancer 0.7 Ensembl ENCODE 36.8 -15.0 -14978 0.6 ZNF217 CUX1 CTBP1 SMARCE1 DPF2 ZNF24 CEBPB CEBPG PIGN RELCH ENSG00000266900 TNFRSF11A
GH18J061947 Enhancer 1.5 FANTOM5 Ensembl ENCODE CraniofacialAtlas dbSUPER 11.9 +236.3 236341 6.4 BCL11A IRF4 TRIM22 EBF1 SMARCA5 CBFB BHLHE40 BATF ZNF24 ELF1 PIGN RELCH RPIAP1 lnc-RNF152-4 piR-31199-155 RNF152 lnc-PIGN-1
GH18J062205 Enhancer 0.5 Ensembl 36.7 -21.0 -20983 4.6 FOXA1 ZNF133 ZNF7 FOXJ2 CBFA2T3 PIGN RELCH TNFRSF11A ENSG00000266900
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around PIGN on the GeneHancer Hub at the UCSC Golden Path

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

Top Transcription factor binding sites by QIAGEN in the PIGN gene promoter:
  • NF-kappaB
  • NF-kappaB1
  • NF-kappaB2
  • Nkx2-5
  • Olf-1
  • POU2F1
  • POU2F1a
  • POU3F1
  • USF-1
  • USF1

Genomic Locations for PIGN Gene

Latest Assembly
chr18:61,905,255-62,187,118
(GRCh38/hg38)
Size:
281,864 bases
Orientation:
Minus strand

Previous Assembly
chr18:59,708,397-59,854,289
(GRCh37/hg19 by Entrez Gene)
Size:
145,893 bases
Orientation:
Minus strand

chr18:59,710,800-59,854,351
(GRCh37/hg19 by Ensembl)
Size:
143,552 bases
Orientation:
Minus strand

Genomic View for PIGN Gene

Genes around PIGN on UCSC Golden Path with GeneCards custom track

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

RefSeq DNA sequence for PIGN Gene

Proteins for PIGN Gene

Products:

  1. Antibodies for research
  2. Protein products for research
  3. Assay products for research

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

    Protein Symbol:
    O95427-PIGN_HUMAN
    Recommended name:
    GPI ethanolamine phosphate transferase 1
    Protein Accession:
    O95427
    Secondary Accessions:
    • Q7L8F8
    • Q8TC01
    • Q9NT05

    Protein attributes for PIGN Gene

    Size:
    931 amino acids
    Molecular mass:
    105810 Da
    Quaternary structure:
    No Data Available

neXtProt entry for PIGN Gene

Protein Expression for PIGN Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for PIGN Gene

  • Glycosylation at Asn128, Asn192, and Asn350
  • Ubiquitination at Lys397
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for PIGN Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for PIGN Gene

Domains & Families for PIGN Gene

Gene Families for PIGN Gene

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

Protein Domains for PIGN Gene

InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for PIGN Gene

GenScript: Design optimal peptide antigens:
  • Phosphatidylinositol-glycan biosynthesis class N protein (PIGN_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O95427

UniProtKB/Swiss-Prot:

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

Function for PIGN Gene

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  1. Animal Models for research
  2. CRISPR products for research
  3. miRNA products for research
  4. Inhibitory RNAs for research
  5. Clone products for research
  6. Cell Lines for research

Molecular function for PIGN Gene

UniProtKB/Swiss-Prot Function:
Ethanolamine phosphate transferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers ethanolamine phosphate to the first alpha-1,4-linked mannose of the glycosylphosphatidylinositol precursor of GPI-anchor (By similarity). May act as suppressor of replication stress and chromosome missegregation.

Enzyme Numbers (IUBMB) for PIGN Gene

Phenotypes From GWAS Catalog for PIGN Gene

Gene Ontology (GO) - Molecular Function for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003824 catalytic activity IEA --
GO:0008484 sulfuric ester hydrolase activity IEA --
GO:0016740 transferase activity IEA --
GO:0051377 mannose-ethanolamine phosphotransferase activity IEA,TAS --
genes like me logo Genes that share ontologies with PIGN: view
genes like me logo Genes that share phenotypes with PIGN: view

Human Phenotype Ontology for PIGN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

  • Taconic Biosciences Mouse Models for PIGN

Inhibitory RNAs for research

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

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

Localization for PIGN Gene

Subcellular locations from UniProtKB/Swiss-Prot for PIGN 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 PIGN gene
Compartment Confidence
plasma membrane 5
cytosol 5
endoplasmic reticulum 2
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (4)
  • Plasma membrane (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane IEA,TAS --
GO:0005829 cytosol IDA --
GO:0005886 plasma membrane IDA --
GO:0016020 membrane IEA,HDA 19946888
genes like me logo Genes that share ontologies with PIGN: view

Pathways & Interactions for PIGN Gene

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

UniProtKB/Swiss-Prot O95427-PIGN_HUMAN

  • Pathway: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.

Gene Ontology (GO) - Biological Process for PIGN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006506 GPI anchor biosynthetic process IEA,IBA 21873635
GO:0016254 preassembly of GPI anchor in ER membrane TAS --
genes like me logo Genes that share ontologies with PIGN: view

No data available for SIGNOR curated interactions for PIGN Gene

Drugs & Compounds for PIGN Gene

Products:

  1. Drug products for research

(5) Drugs for PIGN Gene - From: HMDB

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

(888) Additional Compounds for PIGN 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 (D18:1/12:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
 852100-88-0
3-O-Sulfogalactosylceramide (d18:1/14:0)
  • 3-O-Sulphogalactosylceramide (D18:1/14:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
3-O-Sulfogalactosylceramide (d18:1/16:0)
  • 3-O-Sulphogalactosylceramide (D18:1/16:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
 862509-48-6
3-O-Sulfogalactosylceramide (d18:1/18:0)
  • 3-O-Sulphogalactosylceramide (D18:1/18:0)
  • 3'-O-Sulphogalactosylceramide
  • 3-O-SulfO-beta-D-galactosylceramide
  • 3-O-SulfO-beta-delta-galactosylceramide
  • 3-O-Sulfogalactosylceramide
 244215-65-4
genes like me logo Genes that share compounds with PIGN: view

Transcripts for PIGN Gene

Products:

  1. CRISPR products for research
  2. miRNA products for research
  3. Inhibitory RNAs for research
  4. Clone products for research

mRNA/cDNA for PIGN Gene

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

Inhibitory RNAs for research

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

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

No ASD Table

Relevant External Links for PIGN Gene

GeneLoc Exon Structure for
PIGN

Expression for PIGN Gene

Products:

  1. Primer products for research
  2. Gene Expression Assays for research

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

mRNA expression in normal human tissues for PIGN Gene
mRNA expression by GTEx for PIGN GenemRNA expression by BioGPS for PIGN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for PIGN Gene

This gene is overexpressed in Placenta (24.4), Peripheral blood mononuclear cells (12.3), Monocytes (9.8), and Platelet (9.0).

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



Protein tissue co-expression partners for PIGN Gene

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

SOURCE GeneReport for Unigene cluster for PIGN Gene:

Hs.157031

Evidence on tissue expression from TISSUES for PIGN Gene

  • Nervous system(3)

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

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • integumentary
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • nose
  • outer ear
  • skull
Thorax:
  • esophagus
  • heart
  • heart valve
Abdomen:
  • intestine
  • kidney
  • large intestine
  • stomach
Pelvis:
  • anus
  • placenta
  • rectum
  • testicle
  • ureter
  • uterus
General:
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
genes like me logo Genes that share expression patterns with PIGN: view

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

Orthologs for PIGN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for PIGN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia PIGN 30 31
  • 99.43 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia PIGN 30 31
  • 88.94 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Pign 30
  • 86.39 (n)
Mouse
(Mus musculus)
 Mammalia Pign 30 17 31
  • 86.32 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia PIGN 30 31
  • 83.82 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia -- 31
  • 83 (a)
 OneToMany
-- 31
  • 74 (a)
 OneToMany
-- 31
  • 74 (a)
 OneToMany
-- 31
  • 65 (a)
 OneToMany
-- 31
  • 57 (a)
 OneToMany
Oppossum
(Monodelphis domestica)
 Mammalia PIGN 31
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves PIGN 30 31
  • 73.67 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia PIGN 31
  • 71 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia pign 30
  • 68.72 (n)
Zebrafish
(Danio rerio)
 Actinopterygii pign 30 31
  • 64.1 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP003222 30
  • 46.43 (n)
Fruit Fly
(Drosophila melanogaster)
 Insecta CG2292 30 31 32
  • 45.22 (n)
 OneToMany
CG4907 31 32
  • 24 (a)
 OneToMany
CG13978 31
  • 24 (a)
 OneToMany
CG5342 31
  • 22 (a)
 OneToMany
CG6790 31
  • 22 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea CELE_Y54E10BR.1 30
  • 48.96 (n)
Y54E10BR.1 31 32
  • 34 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes MCD4 30 31 33
  • 50.17 (n)
 OneToOne
K. Lactis Yeast
(Kluyveromyces lactis)
 Saccharomycetes KLLA0B07249g 30
  • 50.04 (n)
A. gosspyii yeast
(Eremothecium gossypii)
 Saccharomycetes AGOS_AEL113C 30
  • 47.89 (n)
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT3G01380 30
  • 49.83 (n)
Rice
(Oryza sativa)
 Liliopsida Os02g0581000 30
  • 46.1 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes its8 30
  • 49.87 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU07999 30
  • 48.43 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 44 (a)
 OneToOne
Species where no ortholog for PIGN was found in the sources mined by GeneCards:
  • 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)
  • 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)
  • 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 Vase (Ciona intestinalis)
  • 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 PIGN Gene

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

Paralogs for PIGN Gene

No data available for Paralogs for PIGN Gene

Variants for PIGN Gene

Products:

  1. SNP Genotyping and Copy Number Assays for research

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

SNP ID Clinical significance and condition Chr 18 pos Variation AA Info Type
264638 Pathogenic: Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,154,348(-) TAGAAACAAAGGAGTT
NM_176787.5(PIGN):c.324_549+196del 		SPLICE_ACCEPTOR_VARIANT,SPLICE_DONOR
835221 Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,102,891(-) C/A
NM_176787.5(PIGN):c.1871G>T (p.Gly624Val) 		MISSENSE
836210 Likely Pathogenic: Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,074,822(-) C/T
NM_176787.5(PIGN):c.2577-1G>A 		SPLICE_ACCEPTOR
836520 Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,090,473(-) T/C
NM_176787.5(PIGN):c.2283+3A>G 		INTRON
837950 Uncertain Significance: Multiple congenital anomalies-hypotonia-seizures syndrome 1 62,145,958(-) C/G
NM_176787.5(PIGN):c.873G>C (p.Lys291Asn) 		MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for PIGN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
dgv1622n106 CNV deletion 24896259
esv2717189 CNV deletion 23290073
esv2717190 CNV deletion 23290073
esv2717191 CNV deletion 23290073
esv2717192 CNV deletion 23290073
esv2717193 CNV deletion 23290073
esv3307664 CNV mobile element insertion 20981092
esv3308328 CNV mobile element insertion 20981092
esv3372987 CNV insertion 20981092
esv33793 CNV loss 17666407
esv3442306 CNV insertion 20981092
esv3555496 CNV deletion 23714750
esv3555497 CNV deletion 23714750
esv3642743 CNV loss 21293372
esv5079 CNV loss 18987735
nsv130647 CNV deletion 16902084
nsv131648 CNV deletion 16902084
nsv474374 CNV novel sequence insertion 20440878
nsv577084 CNV loss 21841781
nsv577085 CNV loss 21841781
nsv833671 CNV gain+loss 17160897

Variation tolerance for PIGN Gene

Residual Variation Intolerance Score: 23.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.15; 61.56% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for PIGN Gene

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

SNP Genotyping and Copy Number Assays for research

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

Disorders for PIGN Gene

MalaCards: The human disease database

(11) MalaCards diseases for PIGN Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

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

UniProtKB/Swiss-Prot

PIGN_HUMAN
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) [MIM:614080]: An autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age. {ECO:0000269 PubMed:21493957}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for PIGN

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

No data available for Genatlas for PIGN Gene

Publications for PIGN Gene

  1. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. (PMID: 21493957) Maydan G … Basel-Vanagaite L (Journal of medical genetics 2011) 3 4 74
  2. MCD4 encodes a conserved endoplasmic reticulum membrane protein essential for glycosylphosphatidylinositol anchor synthesis in yeast. (PMID: 10069808) Gaynor EC … Emr SD (Molecular biology of the cell 1999) 2 3 4
  3. 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
  4. Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping. (PMID: 19690890) McDonough CW … Bowden DW (Human genetics 2009) 3 41
  5. 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

ExternalLinks

View latest publications for PIGN gene in Mastermind

Products for PIGN Gene

Sources for PIGN Gene