B4GALNT2
entrez
124872
canonical
uniprot
Q8NHY0
canonical
ensembl
ENSG00000167080
resolver
ensp
ENSP00000300404
resolver
ensp
ENSP00000377022
resolver
ensp
ENSP00000425510
resolver
genesymbol
B4GALNT2
resolver
genesymbol_syn
GALGT2
resolver
hgnc
HGNC:24136
resolver
uniprot
B4DZE4
resolver
uniprot
Q14CP1
resolver
uniprot
Q86Y40
resolver
uniprot_entry
B4GN2_HUMAN
resolver
uniprot_sec
B4DZE4
resolver
uniprot_sec
Q14CP1
resolver
uniprot_sec
Q86Y40
resolver
amino_acid_sequence
MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGRSRRQGSRFLWLLKILVIILVLGIVGFMFGSMFLQAVFSSPKPELPSPAPGVQKLKLLPEERLRNLFSYDGIWLFPKNQCKCEANKEQGGYNFQDAYGQSDLPAVKARRQAEFEHFQRREGLPRPLPLLVQPNLPFGYPVHGVEVMPLHTVPIPGLQFEGPDAPVYEVTLTASLGTLNTLADVPDSVVQGRGQKQLIISTSDRKLLKFILQHVTYTSTGYQHQKVDIVSLESRSSVAKFPVTIRHPVIPKLYDPGPERKLRNLVTIATKTFLRPHKLMIMLRSIREYYPDLTVIVADDSQKPLEIKDNHVEYYTMPFGKGWFAGRNLAISQVTTKYVLWVDDDFLFNEETKIEVLVDVLEKTELDVVGGSVLGNVFQFKLLLEQSENGACLHKRMGFFQPLDGFPSCVVTSGVVNFFLAHTERLQRVGFDPRLQRVAHSEFFIDGLGTLLVGSCPEVIIGHQSRSPVVDSELAALEKTYNTYRSNTLTRVQFKLALHYFKNHLQCAA
uniprot
proteins
disease_involvement
DISEASE: Sd(a) polyagglutination syndrome (SDPS) [MIM:615018]: A condition characterized by red blood cells agglutination upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory. SDPS depends on the strength of expression of the Sd(a) antigen on red blood cells. Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but can result in red cell agglutination if they are transfused with cells showing strong Sd(a) expression. {ECO:0000269|PubMed:31367682}. Note=The gene represented in this entry is involved in disease pathogenesis.
uniprot
proteins
ec_number
2.4.1.165
uniprot
proteins
function
FUNCTION: Beta-1,4 N-acetylgalactosaminyltransferase involved in the biosynthesis of Sd(a) histo-blood group antigen. Catalyzes the transfer of N-acetylgalactosamine (GalNAc) group in a beta-1,4-linkage from UDP-GalNAc to the galactose residue of NeuAcalpha2->3Gal-R to form Sd(a) glycan epitope GalNAcbeta1->4(NeuAcalpha2->3)Gal-R. The Sd(a) epitope is carried in O- and N-linked glycoproteins and glycolipids, including O-linked core 1 structures on GYPA/glycophorin, SLC4A1 and SLC29A1 in erythrocytes, N-linked glycans attached to the Tamm-Horsfall glycoprotein UMOD/uromodulin in renal fluids, O-linked core 3 glycans on mucins in colon and neolactosides in gastric mucosa (PubMed:12678917, PubMed:14688233, PubMed:16024623, PubMed:35409292). Confers protection against influenza A virus strains that attach to NeuAcalpha2->3-carrying host receptors. Modifies N-glycan chains on host receptors and prevents virus entry into cells (PubMed:28813663). {ECO:0000269|PubMed:12678917, ECO:0000269|PubMed:14688233, ECO:0000269|PubMed:16024623, ECO:0000269|PubMed:28813663, ECO:0000269|PubMed:35409292}.
uniprot
proteins
mass_dalton
63258
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein glycosylation. {ECO:0000269|PubMed:35409292}.; PATHWAY: Glycolipid biosynthesis. {ECO:0000305|PubMed:16024623}.
uniprot
proteins
protein_family
Glycosyltransferase 2 family
uniprot
proteins
pubmed
12678917
uniprot
proteins
pubmed
14688233
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16024623
uniprot
proteins
pubmed
16625196
uniprot
proteins
pubmed
16959974
uniprot
proteins
pubmed
18669648
uniprot
proteins
pubmed
28813663
uniprot
proteins
pubmed
30067891
uniprot
proteins
pubmed
31367682
uniprot
proteins
pubmed
35409292
uniprot
proteins
sequence_length
566
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: [Isoform 1]: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:30067891}; Single-pass type II membrane protein {ECO:0000255}. Cytoplasmic vesicle membrane {ECO:0000269|PubMed:30067891}; Single-pass type II membrane protein {ECO:0000255}. Note=Partially colocalizes with EEA1 and LAMP2 in early endosomes and lysosomes, respectively. {ECO:0000269|PubMed:30067891}.; SUBCELLULAR LOCATION: [Isoform 2]: Golgi apparatus, trans-Golgi network membrane {ECO:0000269|PubMed:30067891}; Single-pass type II membrane protein {ECO:0000255}.
uniprot
proteins
transmembrane_region
TRANSMEM 68..88; /note="Helical; Signal-anchor for type II membrane protein"; /evidence="ECO:0000255
uniprot
proteins