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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
LARGE xylosyl- and glucuronyltransferase 2
Summary
- Gene Symbol
-
- LARGE2
- Aliases
-
- FLJ35207
- PP5656
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 120071
- GGDB ID
- HGNC
- 16522
- mRNA
- map
-
- 11p11.2
- Protein
- OMIM
- KEGG Gene ID
- hsa:120071
- PubChem
- 120071
- Alliance of Genome Resources
Annotation
- Keyword
-
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Manganese
- Metal-binding
- Multifunctional enzyme
- Proteomics identification
- Reference proteome
- Signal
- Signal-anchor
- Transferase
- Transmembrane helix
- Proteins
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| muscle cell cellular homeostasis | ||
| protein O-linked glycosylation | ||
| protein O-linked mannosylation |
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi apparatus | ||
| Golgi membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| UDP-xylosyltransferase activity | ||
| manganese ion binding | ||
| protein binding | ||
| xylosyltransferase activity | ||
| glucuronosyltransferase activity |
GO Hierarchy
GlycoGene Database (GGDB)
- GGDB ID
- gg172
- Gene Symbol
-
- LARGE2
- Reactions
G16579HJ
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Rattus norvegicus | NP_954538 | NM_199107 |
| Mus musculus | NP_766258 | NM_172670 |
KEGG BRITE Database
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0050557 | congenital muscular dystrophy | |
| DOID:0060255 | rippling muscle disease 2 | |
| DOID:0070247 | autosomal dominant Emery-Dreifuss muscular dystrophy 2 | |
| DOID:0080092 | myofibrillar myopathy 1 | |
| DOID:0080094 | myofibrillar myopathy 3 | |
| 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 |
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 103236666 | CHLSB00494 | ||
| 108519281 | RHIBE15433 | ||
| 104668383 | RHIRO07348 | ||
| 100601921 | NOMLE10730 | ||
| 105290010 | PTEVA13733 | ||
| 103735061 | NANGA25758 |
