PIGG (phosphatidylinositol glycan anchor biosynthesis class G)

2014-11-01  

Identity

HGNC
LOCATION
4p16.3
LOCUSID
ALIAS
GPI7,LAS21,MRT53,PRO4405,RLGS1930
FUSION GENES

Other Information

Locus ID:

NCBI: 54872
MIM: 616918
HGNC: 25985
Ensembl: ENSG00000174227

Variants:

dbSNP: 54872
ClinVar: 54872
TCGA: ENSG00000174227
COSMIC: PIGG

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000174227ENST00000310340Q5H8A4
ENSG00000174227ENST00000383028Q5H8A4
ENSG00000174227ENST00000453061Q5H8A4
ENSG00000174227ENST00000503111Q5H8A4
ENSG00000174227ENST00000504187D6RD39
ENSG00000174227ENST00000504346E7EWV1
ENSG00000174227ENST00000506402E7EM50
ENSG00000174227ENST00000509768D6RFE8
ENSG00000174227ENST00000510235D6RC16
ENSG00000174227ENST00000511448D6R9J9

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGko00563
Glycosylphosphatidylinositol (GPI)-anchor biosynthesisKEGGhsa00563
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
269969482016Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.24
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.7
285812102017Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.5
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3
314143512019Identification and In Silico Characterization of a Novel Point Mutation within the Phosphatidylinositol Glycan Anchor Biosynthesis Class G Gene in an Iranian Family with Intellectual Disability.1

Citation

Dessen P

PIGG (phosphatidylinositol glycan anchor biosynthesis class G)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/71908/pigg