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 51 - 60 of 89 in total
HPO ID HPO Term
HP:0001336 Myoclonus
HP:0001344 Absent speech
HP:0001357 Plagiocephaly
HP:0001385 Hip dysplasia
HP:0001510 Growth delay
HP:0001545 Anteriorly placed anus
HP:0001562 Oligohydramnios
HP:0001627 Abnormal heart morphology
HP:0001792 Small nail
HP:0001795 Hyperconvex nail
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

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