Identity
HGNC
LOCATION
1q42.3
LOCUSID
ALIAS
B3GalNAc-T2,MDDGA11
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 148789
MIM: 610194
HGNC: 28596
Ensembl: ENSG00000162885
Variants:
dbSNP: 148789
ClinVar: 148789
TCGA: ENSG00000162885
COSMIC: B3GALNT2
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000162885 | ENST00000313984 | Q8NCR0 |
| ENSG00000162885 | ENST00000366600 | Q8NCR0 |
| ENSG00000162885 | ENST00000612859 | A0A087WY64 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37368380 | 2023 | [Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene]. | 0 |
| 37368380 | 2023 | [Genetic analysis of a Chinese family affected with α-dystroglycanopathy due to variant of B3GALNT2 gene]. | 0 |
| 35338537 | 2022 | Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene. | 2 |
| 35338537 | 2022 | Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene. | 2 |
| 33290285 | 2020 | Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients. | 0 |
| 33290285 | 2020 | Novel mutations in B3GALNT2 gene causing α-dystroglycanopathy in Chinese patients. | 0 |
| 30898876 | 2019 | Identification of mammalian glycoproteins with type-I LacdiNAc structures synthesized by the glycosyltransferase B3GALNT2. | 6 |
| 30898876 | 2019 | Identification of mammalian glycoproteins with type-I LacdiNAc structures synthesized by the glycosyltransferase B3GALNT2. | 6 |
| 29618368 | 2018 | Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity. | 10 |
| 29618368 | 2018 | Increased B3GALNT2 in hepatocellular carcinoma promotes macrophage recruitment via reducing acetoacetate secretion and elevating MIF activity. | 10 |
| 29273094 | 2017 | B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. | 9 |
| 29273094 | 2017 | B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies. | 9 |
| 24084573 | 2014 | B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. | 12 |
| 24285400 | 2014 | Involvement of B3GALNT2 overexpression in the cell growth of breast cancer. | 8 |
| 24084573 | 2014 | B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. | 12 |
Citation
Dessen P
B3GALNT2 (beta-1,3-N-acetylgalactosaminyltransferase 2)
Atlas Genet Cytogenet Oncol Haematol. 2014-09-01
Online version: http://atlasgeneticsoncology.org/gene/54875/b3galnt2-(beta-1-3-n-acetylgalactosaminyltransferase-2)
