PIGG (phosphatidylinositol glycan anchor biosynthesis class G)

2014-11-01  

Identity

HGNC
PIGG
LOCATION
4p16.3
LOCUSID
54872
ALIAS
GPI7,LAS21,MRT53,PRO4405,RLGS1930
FUSION GENES
Show Gene Fusions

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
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
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
341130022021PIGG variant pathogenicity assessment reveals characteristic features within 19 families.4
341130022021PIGG variant pathogenicity assessment reveals characteristic features within 19 families.4
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.2
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.2
285812102017Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.13
285812102017Reduced cell surface levels of GPI-linked markers in a new case with PIGG loss of function.13
269969482016Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.40
269969482016Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.40
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.7
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.17
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.0
197248952009Association of gene polymorphisms with chronic kidney disease in Japanese individuals.0

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-(phosphatidylinositol-glycan-anchor-biosynthesis-class-g)