Identity
HGNC
LOCATION
18q21.33
LOCUSID
ALIAS
MCAHS,MCAHS1,MCD4,MDC4,PIG-N
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23556
MIM: 606097
HGNC: 8967
Ensembl: ENSG00000197563
Variants:
dbSNP: 23556
ClinVar: 23556
TCGA: ENSG00000197563
COSMIC: PIGN
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36322149 | 2023 | Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. | 3 |
| 36322149 | 2023 | Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study. | 3 |
| 36363484 | 2022 | PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation. | 2 |
| 36363484 | 2022 | PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation. | 2 |
| 34051595 | 2021 | Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations. | 1 |
| 34561473 | 2021 | PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression. | 3 |
| 34051595 | 2021 | Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations. | 1 |
| 34561473 | 2021 | PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression. | 3 |
| 29330547 | 2018 | Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. | 9 |
| 29330547 | 2018 | Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. | 9 |
| 27980068 | 2017 | PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis. | 8 |
| 28187452 | 2017 | PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features. | 6 |
| 28327575 | 2017 | Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. | 41 |
| 27980068 | 2017 | PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis. | 8 |
| 28187452 | 2017 | PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features. | 6 |
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-(phosphatidylinositol-glycan-anchor-biosynthesis-class-n)
