PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q)

2007-04-01  

Identity

HGNC
PIGQ
LOCATION
16p13.3
LOCUSID
9091
ALIAS
DEE77,EIEE77,GPI1,c407A10.1
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 9091
MIM: 605754
HGNC: 14135
Ensembl: ENSG00000007541

Variants:

dbSNP: 9091
ClinVar: 9091
TCGA: ENSG00000007541
COSMIC: PIGQ

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000007541ENST00000026218Q9BRB3
ENSG00000007541ENST00000293874J3QTH6
ENSG00000007541ENST00000321878Q9BRB3
ENSG00000007541ENST00000409527Q9BRB3
ENSG00000007541ENST00000420990H7C336
ENSG00000007541ENST00000422307B8ZZ31
ENSG00000007541ENST00000439574B8ZZ29
ENSG00000007541ENST00000443147E7ERP4
ENSG00000007541ENST00000470411Q9BRB3
ENSG00000007541ENST00000540241H0YFM9
ENSG00000007541ENST00000635205A0A0U1RQX6
ENSG00000007541ENST00000635909A0A1B0GUW1
ENSG00000007541ENST00000636005A0A1B0GVF8
ENSG00000007541ENST00000636657A0A1B0GUF6
ENSG00000007541ENST00000637468A0A1B0GVV7
ENSG00000007541ENST00000638143A0A1B0GVY0

Expression (GTEx)

0
10
20
30
40
50
60
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
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
244638832014Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.79
251140682015Genetic determinants of disease progression in Alzheimer's disease.14
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3

Citation

Dessen P

PIGQ (phosphatidylinositol glycan anchor biosynthesis class Q)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46932/pigq