Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
UDP-GalNAc:beta-1,3-N-acetylgalactosaminyltransferase 2
Summary
- UniProt ID
- Q8NCR0
- Gene Symbol
-
- B3GALNT2
- Organism
- Homo sapiens (human)
External Links
- PubChem
- Q8NCR0
Annotation
- Keyword
-
- Alternative splicing
- Congenital muscular dystrophy
- Disease variant
- Dystroglycanopathy
- Endoplasmic reticulum
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Lissencephaly
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Gene Ontology (GO)
| GO Term |
|---|
| protein glycosylation |
| protein O-linked glycosylation |
| GO Term |
|---|
| endoplasmic reticulum |
| endoplasmic reticulum membrane |
| Golgi membrane |
| GO Term |
|---|
| acetylgalactosaminyltransferase activity |
| UDP-glycosyltransferase activity |
Sequence
MRNWLVLLCPCVLGAALHLWLRLRSPPPACASGAGPADQLALFPQWKSTHYDVVVGVLSARNNHELRNVIRSTWMRHLLQHPTLSQRVLVKFIIGAHGCEVPVEDREDPYSCKLLNITNPVLNQEIEAFSLSEDTSSGLPEDRVVSVSFRVLYPIVITSLGVFYDANDVGFQRNITVKLYQAEQEEALFIARFSPPSCGVQVNKLWYKPVEQFILPESFEGTIVWESQDLHGLVSRNLHKVTVNDGGGVLRVITAGEGALPHEFLEGVEGVAGGFIYTIQEGDALLHNLHSRPQRLIDHIRNLHEEDALLKEESSIYDDIVFVDVVDTYRNVPAKLLNFYRWTVETTSFNLLLKTDDDCYIDLEAVFNRIVQKNLDGPNFWWGNFRLNWAVDRTGKWQELEYPSPAYPAFACGSGYVISKDIVKWLASNSGRLKTYQGEDVSMGIWMAAIGPKRYQDSLWLCEKTCETGMLSSPQYSPWELTELWKLKERCGDPCRCQAR
Glycosylation Sites
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:0080092 | myofibrillar myopathy 1 | |
| DOID:0080094 | myofibrillar myopathy 3 | |
| DOID:0090130 | cortical dysplasia-focal epilepsy syndrome | |
| DOID:540 | strabismus | |
| 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 |
