PIGN (phosphatidylinositol glycan anchor biosynthesis class N)

2007-04-01  

Identity

HGNC
LOCATION
18q21.33
LOCUSID
ALIAS
MCAHS,MCAHS1,MCD4,MDC4,PIG-N
FUSION GENES

Other Information

Locus ID:

NCBI: 23556
MIM: 606097
HGNC: 8967
Ensembl: ENSG00000197563

Variants:

dbSNP: 23556
ClinVar: 23556
TCGA: ENSG00000197563
COSMIC: PIGN

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000197563ENST00000357637O95427
ENSG00000197563ENST00000357637A0A024R2C3
ENSG00000197563ENST00000400334O95427
ENSG00000197563ENST00000400334A0A024R2C3
ENSG00000197563ENST00000585344K7EL34
ENSG00000197563ENST00000585458K7ESH9
ENSG00000197563ENST00000585923K7EQG0
ENSG00000197563ENST00000585926K7ERX5
ENSG00000197563ENST00000586566K7EPJ2
ENSG00000197563ENST00000588571K7ELE1
ENSG00000197563ENST00000589339K7ELE1
ENSG00000197563ENST00000589720K7ESH9
ENSG00000197563ENST00000590765K7EID9
ENSG00000197563ENST00000590948K7EJM6
ENSG00000197563ENST00000591238K7EMD7
ENSG00000197563ENST00000592803K7ENK2
ENSG00000197563ENST00000638167A0A1W2PPR7
ENSG00000197563ENST00000638183A0A1W2PNR0
ENSG00000197563ENST00000638329K7ELE1
ENSG00000197563ENST00000638369A0A1W2PQP4
ENSG00000197563ENST00000638424A0A1W2PQZ1
ENSG00000197563ENST00000638435A0A1W2PQR8
ENSG00000197563ENST00000638591A0A1W2PRH3
ENSG00000197563ENST00000638904A0A1W2PPB6
ENSG00000197563ENST00000638936O95427
ENSG00000197563ENST00000638936A0A024R2C3
ENSG00000197563ENST00000638977A0A1W2PNH8
ENSG00000197563ENST00000639174A0A1W2PS19
ENSG00000197563ENST00000639342A0A1W2PNQ8
ENSG00000197563ENST00000639372A0A1W2PPK6
ENSG00000197563ENST00000639600A0A1W2PR74
ENSG00000197563ENST00000639681A0A1W2PQ49
ENSG00000197563ENST00000639758A0A1W2PNH8
ENSG00000197563ENST00000639902A0A1W2PQA9
ENSG00000197563ENST00000639912A0A1W2PNH8
ENSG00000197563ENST00000640050O95427
ENSG00000197563ENST00000640050A0A024R2C3
ENSG00000197563ENST00000640145O95427
ENSG00000197563ENST00000640145A0A024R2C3
ENSG00000197563ENST00000640170A0A1W2PQ49
ENSG00000197563ENST00000640252O95427
ENSG00000197563ENST00000640252A0A024R2C3
ENSG00000197563ENST00000640268A0A1W2PNW5
ENSG00000197563ENST00000640540A0A1W2PQA9
ENSG00000197563ENST00000640593A0A1W2PQ49
ENSG00000197563ENST00000640682A0A1W2PPA0
ENSG00000197563ENST00000640876O95427
ENSG00000197563ENST00000640876A0A024R2C3

Expression (GTEx)

0
1
2
3
4
5
6
7

Pathways

PathwaySourceExternal ID
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
Metabolic pathwaysKEGGhsa01100
GPI-anchor biosynthesis, core oligosaccharideKEGGhsa_M00065
GPI-anchor biosynthesis, core oligosaccharideKEGGM00065
Metabolism of proteinsREACTOMER-HSA-392499
Post-translational protein modificationREACTOMER-HSA-597592
Post-translational modification: synthesis of GPI-anchored proteinsREACTOMER-HSA-163125
Synthesis of glycosylphosphatidylinositol (GPI)REACTOMER-HSA-162710

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
214939572011Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.51
242534142014PIGN mutations cause congenital anomalies, developmental delay, hypotonia, epilepsy, and progressive cerebellar atrophy.25
283275752017Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.22
270384152016Fryns Syndrome Associated with Recessive Mutations in PIGN in two Separate Families.13
263947142016Genotype-phenotype correlation of congenital anomalies in multiple congenital anomalies hypotonia seizures syndrome (MCAHS1)/PIGN-related epilepsy.11
196908902009Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mapping.9
263649972016A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.8
293305472018Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.4
279800682017PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis.3

Citation

Dessen P

PIGN (phosphatidylinositol glycan anchor biosynthesis class N)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46809/pign