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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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)
| GO Term |
|---|
| neuron migration |
| protein O-linked glycosylation |
| protein O-linked mannosylation |
| GO Term |
|---|
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| GO Term |
|---|
| acetylglucosaminyltransferase activity |
| protein O-acetylglucosaminyltransferase activity |
Sequence
MHLSAVFNALLVSVLAAVLWKHVRLREHAATLEEELALSRQATEPAPALRIDYPKALQILMEGGTHMVCTGRTHTDRICRFKWLCYSNEAEEFIFFHGNTSVMLPNLGSRRFQPALLDLSTVEDHNTQYFNFVELPAAALRFMPKPVFVPDVALIANRFNPDNLMHVFHDDLLPLFYTLRQFPGLAHEARLFFMEGWGEGAHFDLYKLLSPKQPLLRAQLKTLGRLLCFSHAFVGLSKITTWYQYGFVQPQGPKANILVSGNEIRQFARFMTEKLNVSHTGVPLGEEYILVFSRTQNRLILNEAELLLALAQEFQMKTVTVSLEDHTFADVVRLVSNASMLVSMHGAQLVTTLFLPRGATVVELFPYAVNPDHYTPYKTLAMLPGMDLQYVAWRNMMPENTVTHPERPWDQGGITHLDRAEQARILQSREVPRHLCCRNPEWLFRIYQDTKVDIPSLIQTIRRVVKGRPGPRKQKWTVGLYPGKVREARCQASVHGASEARLTVSWQIPWNLKYLKVREVKYEVWLQEQGENTYVPYILALQNHTFTENIKPFTTYLVWVRCIFNKILLGPFADVLVCNT
Glycosylation Sites
| Position | Description | PubMed ID | GlyTouCan ID | Source |
|---|---|---|---|---|
| 39 |
|
|||
| 41 |
|
|||
| 43 |
|
|||
| 99 | N-linked (GlcNAc...) asparagine |
|
||
| 276 | N-linked (GlcNAc...) asparagine | |||
| 337 |
|
G57321FI
G49108TO
G62765YT
G31852PQ
G41247ZX
G40926MX
G40574BA
G80920RR
Feature
: Glycosylation Site from GlyGen
: Glycosylation Site from UniProt
Pathway
| Pathway Name | Organism |
|---|---|
| O-linked glycosylation | Homo sapiens |
Disease
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0060278 | pontocerebellar hypoplasia type 9 | |
| DOID:0060287 | cornea plana | |
| DOID:0060469 | Miller-Dieker lissencephaly syndrome | |
| DOID:0060673 | Peters anomaly | |
| DOID:0060807 | syndromic X-linked intellectual disability Najm type | |
| DOID:0060857 | septooptic dysplasia | |
| DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
| DOID:0080092 | myofibrillar myopathy 1 | |
| DOID:0080094 | myofibrillar myopathy 3 | |
| DOID:0090130 | cortical dysplasia-focal epilepsy syndrome |
