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 1 - 10 of 30 in total
DO ID Disease Name Source
DOID:0050841 focal hand dystonia
DOID:0060216 Cogan syndrome
DOID:0060249 scoliosis
DOID:0060823 syndromic X-linked intellectual disability 94
DOID:0070433 hyperphosphatasia with impaired intellectual development syndrome 1
DOID:10003 sensorineural hearing loss
DOID:10293 monocular esotropia
DOID:10487 Hirschsprung's disease
DOID:1059 intellectual disability
DOID:11014 anorectal stricture
The Human Phenotype Ontology
Displaying entries 1 - 10 of 89 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000126 Hydronephrosis
HP:0000175 Cleft palate
HP:0000193 Bifid uvula
HP:0000204 Cleft upper lip
HP:0000218 High palate
HP:0000219 Thin upper lip vermilion
HP:0000238 Hydrocephalus
HP:0000248 Brachycephaly
HP:0000272 Malar flattening
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