PIGN (phosphatidylinositol glycan anchor biosynthesis class N)

2007-04-01  

Identity

HGNC
PIGN
LOCATION
18q21.33
LOCUSID
23556
ALIAS
MCAHS,MCAHS1,MCD4,MDC4,PIG-N
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
363221492023Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.3
363221492023Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.3
363634842022PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.2
363634842022PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation.2
340515952021Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.1
345614732021PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression.3
340515952021Novel insights into the clinico-radiological spectrum of phenotypes associated to PIGN mutations.1
345614732021PIGN spatiotemporally regulates the spindle assembly checkpoint proteins in leukemia transformation and progression.3
293305472018Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.9
293305472018Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome.9
279800682017PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis.8
281874522017PIGN gene expression aberration is associated with genomic instability and leukemic progression in acute myeloid leukemia with myelodysplastic features.6
283275752017Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.41
279800682017PIGN prevents protein aggregation in the endoplasmic reticulum independently of its function in the GPI synthesis.8
281874522017PIGN 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)