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MIRAGE
beta-1,3-N-acetylgalactosaminyltransferase 2
Summary
- Gene Symbol
-
- B3GALNT2
- Aliases
-
- MGC39558
- Organism
- Homo sapiens (human)
External Links
- NCBI Gene
- 148789
- GGDB ID
- HGNC
- 28596
- mRNA
- map
-
- 1q42.3
- Protein
- OMIM
- KEGG Gene ID
- hsa:148789
- PubChem
- 148789
- Alliance of Genome Resources
Annotation
- Keyword
-
- Alternative splicing
- Congenital muscular dystrophy
- Disease variant
- Dystroglycanopathy
- Endoplasmic reticulum
- Glycoprotein
- Glycosyltransferase
- Golgi apparatus
- Lissencephaly
- Reference proteome
- Signal-anchor
- Transmembrane helix
- Proteins
| UniProt | Protein Name |
|---|---|
| Q8NCR0 |
|
Gene Ontology (GO)
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein glycosylation | ||
| protein O-linked glycosylation | ||
| protein O-linked glycosylation | ||
| protein O-linked glycosylation |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| Golgi membrane | ||
| endoplasmic reticulum | ||
| endoplasmic reticulum membrane |
GO Hierarchy
| GO Term | Evidence Code | PMID |
|---|---|---|
| protein binding | ||
| UDP-glycosyltransferase activity | ||
| acetylgalactosaminyltransferase activity | ||
| acetylgalactosaminyltransferase activity |
GO Hierarchy
OrthoDB (Group)
- Group level
- Eukaryota
- Group Name
- galactosyltransferase
- Functional Category
-
- K: Transcription
- M: Cell wall/membrane/envelope biogenesis
- T: Signal transduction mechanisms
| Gene Ontology |
|---|
| hexosyltransferase activity |
| transferase activity |
| InterPro |
|---|
| Glycosyl transferase, family 31 |
GlycoGene Database (GGDB)
- GGDB ID
- gg103
- Gene Symbol
-
- B3GALNT2
- Reactions
| Donor | Acceptor | Reducing terminal(Acceptor) | Product | Reducing terminal(Product) | Reference |
|---|---|---|---|---|---|
| UDP-GalNAc |
G00035MO
|
(core3)-pNP |
G18975PJ
|
(core3)-pNP | |
| UDP-GalNAc |
G49108TO
|
R |
G36387CV
|
R | |
| UDP-GalNAc |
G00033MO
|
(core2)-pNP |
G01707KB
|
(core2)-pNP | |
| UDP-GalNAc |
G97041TX
|
MU |
G82715NG
|
MU | |
| UDP-GalNAc |
G49108TO
|
[beta]-Bz |
G36387CV
|
[beta]-Bz |
G57321FI
G93723GS
G65889KE
G84224TW
G84088FO
- Orthologous Gene
| Species | Protein | mRNA |
|---|---|---|
| Mus musculus | NP_848755 | NM_178640 |
| Rattus norvegicus | XP_225436 | XM_225436 |
KEGG BRITE Database
Rhea
Disease
- Disease Ontology
| DO ID | Disease Name | Source |
|---|---|---|
| DOID:0111230 | congenital muscular dystrophy-dystroglycanopathy type A11 |
- 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:615181 |
|
| ORPHA:899 |
|
| ORPHA:588 |
|
PubChem Disease
- MedGen Diseases
- OMIM Phenotypes
- KEGG Diseases
Ortholog
| Species | Gene ID | Alliance of Genome Resources | Orthologous MAtrix |
|---|---|---|---|
| 97884 | Xenbase:XB-GENE-1012156 | MOUSE11939 | |
| 148789 | Xenbase:XB-GENE-1012156 | ||
| 291212 | Xenbase:XB-GENE-1012156 | RATNO12814 | |
| 431874 | Xenbase:XB-GENE-1012156 | ||
| 469715 | PANTR23971 | ||
| 479196 | CANLF14536 | ||
| 496641 | Xenbase:XB-GENE-1012156 | ||
| 553716 | Xenbase:XB-GENE-1012156 | DANRE05171 | |
| 711550 | MACMU22564 | ||
| 100058647 | HORSE18233 |
