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 61 - 70 of 78 in total
HPO ID HPO Term
HP:0002558 Supernumerary nipple
HP:0002650 Scoliosis
HP:0002696 Abnormal parietal bone morphology
HP:0002714 Downturned corners of mouth
HP:0003155 Elevated circulating alkaline phosphatase concentration
HP:0003196 Short nose
HP:0003577 Congenital onset
HP:0004969 Peripheral pulmonary artery stenosis
HP:0006118 Shortening of all distal phalanges of the fingers
HP:0006808 Cerebral hypomyelination
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

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024