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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
Summary
- Gene Symbol
-
- POMGNT2
- Aliases
-
- AGO61
- FLJ14566
- protein O-mannose beta-1,4-N-acetylglucosaminyltransferase 2
- Organism
- Homo sapiens (human)
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
- Proteins
| UniProt | Protein Name |
|---|---|
| Q8NAT1 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| neuron migration | ||
| protein O-linked glycosylation | ||
| protein O-linked mannosylation |
| GO Term | Evidence Code | PMID |
|---|---|---|
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| acetylglucosaminyltransferase activity | ||
| protein binding | ||
| protein O-acetylglucosaminyltransferase activity |
GO Hierarchy
GlycoGene Database (GGDB)
G61491DK
G97041TX
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050453 | lissencephaly | |
| DOID:0050557 | congenital muscular dystrophy | |
| DOID:0050559 | Fukuyama congenital muscular dystrophy | |
| DOID:0050560 | Walker-Warburg syndrome | |
| DOID:0050588 | muscular dystrophy-dystroglycanopathy type B1 | |
| DOID:0050777 | Joubert syndrome | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0060270 | pontocerebellar hypoplasia type 2D | |
| DOID:0060276 | pontocerebellar hypoplasia type 7 | |
| DOID:0060277 | pontocerebellar hypoplasia type 8 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000007 | Autosomal recessive inheritance |
| HP:0000028 | Cryptorchidism |
| HP:0000175 | Cleft palate |
| HP:0000176 | Submucous cleft hard palate |
| HP:0000193 | Bifid uvula |
| HP:0000238 | Hydrocephalus |
| HP:0000252 | Microcephaly |
| HP:0000256 | Macrocephaly |
| HP:0000358 | Posteriorly rotated ears |
| HP:0000369 | Low-set ears |
| Disease ID | Disease Name |
|---|---|
| OMIM:614830 |
|
| OMIM:618135 |
|
| ORPHA:899 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103273128 | CARSF02403 | ||
| 115618400 | STRHB15995 |
