phosphatidylinositol glycan anchor biosynthesis class V

Summary
Gene Symbol
  • PIGV
Aliases
  • FLJ20477
  • GPI mannosyltransferase 2
  • GPI-MT-II
  • PIG-V
  • dol-P-Man dependent GPI mannosyltransferase II
Organism
Homo sapiens (human)
External Links
NCBI Gene
55650
GGDB ID
HGNC
26031
mRNA
map
  • 1p36.11
Protein
OMIM
KEGG Gene ID
hsa:55650
PubChem
55650
Alliance of Genome Resources
Annotation
Keyword
  • Disease variant
  • Endoplasmic reticulum
  • GPI-anchor biosynthesis
  • Glycosyltransferase
  • Intellectual disability
  • Reference proteome
  • Transmembrane helix
Proteins
Displaying 1 entry
UniProt Protein Name
Q9NUD9
  • GPI mannosyltransferase II
  • Phosphatidylinositol-glycan biosynthesis class V protein
Gene Ontology (GO)
GO Hierarchy
GlycoGene Database (GGDB)
GGDB ID
gg223
Gene Symbol
  • PIGV
KEGG BRITE Database
Orthology
K07542
Name
GPI mannosyltransferase 2 [EC:2.4.1.-]
References
Disease
Disease Ontology
Displaying entries 21 - 30 of 30 in total
DO ID Disease Name Source
DOID:1826 epilepsy
DOID:2340 craniosynostosis
DOID:308 early myoclonic encephalopathy
DOID:3535 Unverricht-Lundborg syndrome
DOID:529 blepharospasm
DOID:758 situs inversus
DOID:8455 pyridoxine deficiency anemia
DOID:8927 learning disability
DOID:9834 hyperopia
DOID:9840 esotropia
The Human Phenotype Ontology
Displaying entries 31 - 40 of 89 in total
HPO ID HPO Term
HP:0000582 Upslanted palpebral fissure
HP:0000594 Shallow anterior chamber
HP:0000637 Long palpebral fissure
HP:0000657 Oculomotor apraxia
HP:0000729 Autistic behavior
HP:0000750 Delayed speech and language development
HP:0000767 Pectus excavatum
HP:0001009 Telangiectasia
HP:0001090 Abnormally large globe
HP:0001182 Tapered finger
Displaying all 2 entries
Disease ID Disease Name
OMIM:239300
  • hyperphosphatasia with intellectual disability syndrome 1
ORPHA:247262
  • hyperphosphatasia-intellectual disability syndrome
LIPID MAPS Gene / Proteome Database
LMPD ID
LMP004710
Gene Name
phosphatidylinositol glycan anchor biosynthesis, class V

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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