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Standards Ontologies Notations
Protein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2

Summary
UniProt ID
Q8NAT1
Gene Symbol
  • POMGNT2
  • AGO61
  • C3orf39
  • EOGTL
  • GTDC2
Organism
Homo sapiens (human)
External Links
GlyGen
Q8NAT1
PubChem
Q8NAT1
The Human Metabolome Database
HMDBP11759
The O-GlcNAc Database
Q8NAT1
O-GlcNAcAtlas
Q8NAT1
Annotation
Keyword
  • 3D-structure
  • Congenital muscular dystrophy
  • Disease variant
  • Dystroglycanopathy
  • Endoplasmic reticulum
  • Glycoprotein
  • Glycosyltransferase
  • Limb-girdle muscular dystrophy
  • Lissencephaly
  • Reference proteome
  • Signal-anchor
  • Transmembrane helix
Gene Ontology (GO)
Displaying all 2 entries
GO Term
endoplasmic reticulum
endoplasmic reticulum membrane
Annotation information from UniProt.
Sequence
MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALSRQATEPAPALRIDYPKALQILMEGGTHMVCTGRTHTDRICRFKWLCYSNEAEEFIFFHGNTSVMLPNLGSRRFQPALLDLSTVEDHNTQYFNFVELPAAALRFMPKPVFVPDVALIANRFNPDNLMHVFHDDLLPLFYTLRQFPGLAHEARLFFMEGWGEGAHFDLYKLLSPKQPLLRAQLKTLGRLLCFSHAFVGLSKITTWYQYGFVQPQGPKANILVSGNEIRQFARFMTEKLNVSHTGVPLGEEYILVFSRTQNRLILNEAELLLALAQEFQMKTVTVSLEDHTFADVVRLVSNASMLVSMHGAQLVTTLFLPRGATVVELFPYAVNPDHYTPYKTLAMLPGMDLQYVAWRNMMPENTVTHPERPWDQGGITHLDRAEQARILQSREVPRHLCCRNPEWLFRIYQDTKVDIPSLIQTIRRVVKGRPGPRKQKWTVGLYPGKVREARCQASVHGASEARLTVSWQIPWNLKYLKVREVKYEVWLQEQGENTYVPYILALQNHTFTENIKPFTTYLVWVRCIFNKILLGPFADVLVCNT
  • N : N-glycosylation Site
  • ___ : Potential Sequon
Glycosylation Sites
Displaying all 6 entries
Position Description PubMed ID GlyTouCan ID Source
39
41
43
99 N-linked (GlcNAc...) asparagine
276 N-linked (GlcNAc...) asparagine
337
Feature
  • ProtVista GlyGen : Glycosylation Site from GlyGen
  • ProtVista UniProt : Glycosylation Site from UniProt
Pathway
Displaying 1 entry
Pathway Name Organism
O-linked glycosylation Homo sapiens
Disease
Displaying entries 21 - 30 of 85 in total
DO ID Disease Name Source
DOID:0090132 complex cortical dysplasia with other brain malformations 7
DOID:0090137 complex cortical dysplasia with other brain malformations 1
DOID:0110096 short-rib thoracic dysplasia 14 with polydactyly
DOID:0110273 autosomal dominant limb-girdle muscular dystrophy
DOID:0110274 autosomal recessive limb-girdle muscular dystrophy
DOID:0110275 autosomal recessive limb-girdle muscular dystrophy type 2A
DOID:0110276 autosomal recessive limb-girdle muscular dystrophy type 2B
DOID:0110277 autosomal recessive limb-girdle muscular dystrophy type 2C
DOID:0110278 autosomal recessive limb-girdle muscular dystrophy type 2D
DOID:0110279 autosomal recessive limb-girdle muscular dystrophy type 2E
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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

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Last updated: August 19, 2024