PIGH (phosphatidylinositol glycan anchor biosynthesis class H)

2007-04-01  

Identity

HGNC
PIGH
LOCATION
14q24.1
LOCUSID
5283
ALIAS
GPI-H

Other Information

Locus ID:

NCBI: 5283
MIM: 600154
HGNC: 8964
Ensembl: ENSG00000100564

Variants:

dbSNP: 5283
ClinVar: 5283
TCGA: ENSG00000100564
COSMIC: PIGH

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000100564ENST00000216452Q14442
ENSG00000100564ENST00000558001H0YNL7
ENSG00000100564ENST00000558198H0YNL7
ENSG00000100564ENST00000558493H0YLD0
ENSG00000100564ENST00000558987H0YKI1
ENSG00000100564ENST00000559415H0YKZ3
ENSG00000100564ENST00000559581H0YMT4
ENSG00000100564ENST00000560722H0YLY9
ENSG00000100564ENST00000561272H0YMV4
ENSG00000100564ENST00000561303B4DEE2

Expression (GTEx)

0
5
10
15
20
25
30
35
40
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
262882492015Variability of Gene Expression Identifies Transcriptional Regulators of Early Human Embryonic Development.17
295730522018A homozygous variant disrupting the PIGH start-codon is associated with developmental delay, epilepsy, and microcephaly.5
303709422019Loss of the GPI-anchor in B-lymphoblastic leukemia by epigenetic downregulation of PIGH expression.2
296035162018A PIGH mutation leading to GPI deficiency is associated with developmental delay and autism.0

Citation

Dessen P

PIGH (phosphatidylinositol glycan anchor biosynthesis class H)

Atlas Genet Cytogenet Oncol Haematol. 2007-04-01

Online version: http://atlasgeneticsoncology.org/gene/46949/pigh