phosphatidylinositol glycan anchor biosynthesis class C

Summary
Gene Symbol
  • PIGC
Aliases
  • GPI2
  • PIG-C
  • phosphatidylinositol N-acetylglucosaminyltransferase subunit C
Organism
Homo sapiens (human)
External Links
NCBI Gene
5279
GGDB ID
HGNC
8960
mRNA
map
  • 1q23-q25, 1q24.3 (OMIM)
Protein
OMIM
KEGG Gene ID
hsa:5279
PubChem
5279
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Intellectual disability
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q92535
  • Phosphatidylinositol-glycan biosynthesis class C protein
Gene Ontology (GO)
Displaying 1 entry
GO Term Evidence Code PMID
GPI anchor biosynthetic process
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg214
Gene Symbol
  • PIGC
KEGG BRITE Database
Orthology
K03859
Name
phosphatidylinositol N-acetylglucosaminyltransferase subunit C
References
Disease
Disease Ontology
Displaying entries 21 - 29 of 29 in total
DO ID Disease Name Source
DOID:2481 obsolete infantile epileptic encephalopathy
DOID:2848 obsolete melancholia
DOID:3327 partial motor epilepsy
DOID:4090 agnosia
DOID:4964 neurotic disorder
DOID:543 dystonia
DOID:8927 learning disability
DOID:9854 lingual-facial-buccal dyskinesia
DOID:9923 developmental coordination disorder
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0001249 Intellectual disability
HP:0001250 Seizure
HP:0001263 Global developmental delay
HP:0002465 Poor speech
HP:0003155 Elevated circulating alkaline phosphatase concentration
HP:0003593 Infantile onset
Displaying 1 entry
Disease ID Disease Name
OMIM:617816
  • glycosylphosphatidylinositol biosynthesis defect 16
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP000545
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class C

About Release Notes Help Feedback

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