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148789 B3GALNT2

148789

B3GALNT2

beta-1,3-N-acetylgalactosaminyltransferase 2

protein-coding

Homo sapiens

基因描述

Type Description
Definition beta-1,3-N-acetylgalactosaminyltransferase 2

研究结论

Date Results Publications
2020-01-11 12:10:00 B3GALNT2 primarily transferred LDN to intracellular glycoproteins, thereby clearly delineating proteins that carry type-I or type-II LacdiNAcs 30898876
2019-11-16 13:26:00 B3GALNT2 reduced expression of some metabolic enzymes and thus downregulated levels of secreted acetoacetate. This relieved the activity of MIF and enhanced macrophage recruitment to promote tumor growth. 29618368
2018-11-10 11:36:00 Mutations in B3GALNT2 give rise to a novel muscular dystrophy-dystroglycanopathies syndrome presentation, characterized by intellectual disability and seizure, but without any apparent muscular involvement. 29273094
2015-01-31 11:38:00 B3GALNT2 is a gene associated with congenital muscular dystrophy with brain malformations. 24084573
2014-09-13 11:20:00 B3GALNT2 overexpression is associated with breast cancer. 24285400

名称对应

Type IDs
Synonymous B3GalNAc-T2, MDDGA11
Gene
UniProtKB-ID: B3GL2_HUMAN
UniprotKB: Q8NCR0
UniParc: UPI0000470B12, UPI0000071B30
EMBL: AB209046, AL135928, BC016974, BC029564
Ensembl: ENSG00000162885, ENSG00000282880
KO: hsa:148789
Nucleutide sequences
EMBL-CDS: BAD92283.1, AAH16974.1, CAI21727.1, CAI21728.1, AAH29564.1
Ensembl_TRS: ENST00000366600, ENST00000635453, ENST00000313984, ENST00000635244
Protein sequencees
Ensembl_PRO: ENSP00000315678, ENSP00000489342, ENSP00000489219, ENSP00000355559
RefSeq: NP_689703.1, NP_001264084.1, XP_006711812.1, XP_016855883.1, XP_016855884.1
Others
UniRef100: UniRef100_Q8NCR0
UniRef90: UniRef90_Q8NCR0
UniRef50: UniRef50_Q8NCR0
UniGene: Hs.498143
CCDS: CCDS60453.1, CCDS1606.1

全选

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