phosphatidylinositol glycan anchor biosynthesis class O

Summary
Gene Symbol
  • PIGO
Aliases
  • DKFZp434M222
  • FLJ00135
  • PIG-O
Organism
Homo sapiens (human)
External Links
NCBI Gene
84720
GGDB ID
HGNC
23215
mRNA
map
  • 9p13.3, 9p13.2 (HGNC)
Protein
OMIM
KEGG Gene ID
hsa:84720
PubChem
84720
Alliance of Genome Resources
Annotation
Keyword
  • Alternative splicing
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Glycoprotein
  • Intellectual disability
  • Reference proteome
  • Transferase
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q8TEQ8
  • Phosphatidylinositol-glycan biosynthesis class O protein
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg227
Gene Symbol
  • PIGO
KEGG BRITE Database
Orthology
K05288
Name
GPI ethanolamine phosphate transferase 3 subunit O [EC:2.7.-.-]
References
Reactions
Displaying 1 entry
KEGG Reaction Enzyme Acceptor Product
R08107
Disease
Disease Ontology
Displaying entries 1 - 10 of 36 in total
DO ID Disease Name Source
DOID:0070309 absence epilepsy
DOID:0050428 nonepidermolytic palmoplantar keratoderma
DOID:0050841 focal hand dystonia
DOID:0060216 Cogan syndrome
DOID:0060249 scoliosis
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0070434 hyperphosphatasia with impaired intellectual development syndrome 2
DOID:0080199 colorectal carcinoma
DOID:0110213 isolated cleft palate
DOID:10003 sensorineural hearing loss
The Human Phenotype Ontology
Displaying entries 1 - 10 of 78 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000076 Vesicoureteral reflux
HP:0000126 Hydronephrosis
HP:0000175 Cleft palate
HP:0000193 Bifid uvula
HP:0000218 High palate
HP:0000248 Brachycephaly
HP:0000252 Microcephaly
HP:0000280 Coarse facial features
HP:0000286 Epicanthus
Displaying all 2 entries
Disease ID Disease Name
OMIM:614749
  • hyperphosphatasia with intellectual disability syndrome 2
ORPHA:247262
  • hyperphosphatasia-intellectual disability syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP001314
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class O

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024