congenital disorder of glycosylation type II

Summary
Definition
A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain.
Super Class
congenital disorder of glycosylation
Disease Ontology
DOID:0050571
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
2542 SLC37A4 solute carrier family 37 member 4
2590 GALNT2 polypeptide N-acetylgalactosaminyltransferase 2
10159 ATP6AP2 ATPase H+ transporting accessory protein 2
55343 SLC35C1 solute carrier family 35 member C1
55858 TMEM165 transmembrane protein 165
80267 EDEM3 ER degradation enhancing alpha-mannosidase like protein 3
83548 COG3 component of oligomeric golgi complex 3
85365 ALG2 ALG2 alpha-1,3/1,6-mannosyltransferase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
56389 Stx5a syntaxin 5A
66967 Edem3 ER degradation enhancer, mannosidase alpha-like 3
108148 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
292090 Galnt2 polypeptide N-acetylgalactosaminyltransferase 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source
33556 Pgant2 Polypeptide N-Acetylgalactosaminyltransferase 2
34714 Edem2 ER degradation enhancer, mannosidase alpha-like 2
40981 nac neuronally altered carbohydrate
41104 ATP6AP2 ATPase H+ transporting accessory protein 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
570248 galnt2 UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2
Displaying all 4 entries
Gene ID Gene Symbol Description Source Organism
443907 edem3.L ER degradation enhancer, mannosidase alpha-like 3 L homeolog Xenopus laevis (African clawed frog)
100488284 galnt2 polypeptide N-acetylgalactosaminyltransferase 2 Xenopus tropicalis (tropical clawed frog)
101027298 galnt2.S polypeptide N-acetylgalactosaminyltransferase 2 S homeolog Xenopus laevis (African clawed frog)
108716128 galnt2.L polypeptide N-acetylgalactosaminyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 2 entries
Gene ID Gene Symbol Description Source
180302 gly-4 Polypeptide N-acetylgalactosaminyltransferase 4;polypeptide N-acetylgalactosaminyltransferase
181210 ZC506.1 alpha-1,2-Mannosidase
Displaying 1 entry
Gene ID Gene Symbol Description Source
856901 COG3 Golgi transport complex subunit COG3

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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: December 9, 2024