B4GALNT2 (beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group))

Gene Gene information from NCBI Gene database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID 124872
Gene name Beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
Gene symbol B4GALNT2
Synonyms (NCBI Gene)
B4GALTGALGT2
Chromosome 17
Chromosome location 17q21.32
Summary B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 a
miRNA miRNA information provided by mirtarbase database.
7
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (7)
miRTarBase ID miRNA Experiments Reference
MIRT813461 hsa-miR-1207-5p CLIP-seq
MIRT813462 hsa-miR-1256 CLIP-seq
MIRT813463 hsa-miR-3714 CLIP-seq
MIRT813464 hsa-miR-4761-3p CLIP-seq
MIRT813465 hsa-miR-4763-3p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
28
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all (28)
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0000139 Component Golgi membrane TAS
GO:0005515 Function Protein binding IPI 32296183
GO:0005794 Component Golgi apparatus IEA
GO:0006047 Process UDP-N-acetylglucosamine metabolic process IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
111730 24136 ENSG00000167080
Protein Protein information from UniProt database.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q8NHY0
Protein name Beta-1,4 N-acetylgalactosaminyltransferase 2 (EC 2.4.1.-) (Sd(a) beta-1,4-GalNAc transferase) (UDP-GalNAc:Neu5Aca2-3Galb-R b1,4-N-acetylgalactosaminyltransferase)
Protein 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 NeuAcalp
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00535 Glycos_transf_2 324 → 470 Glycosyl transferase family 2 Family
Tissue specificity TISSUE SPECIFICITY: Widely expressed. Highly expressed in colon and to a lesser extent in kidney, stomach, ileum and rectum. {ECO:0000269|PubMed:12678917}.
Sequence 
MGSAGFSVGKFHVEVASRGRECVSGTPECGNRLGSAGFGALCLELRGADPAWGPFAAHGR
SRRQGSRFLWLLKILVIILVLGIVGFMFGSMFLQAVFSSPKPELPSPAPGVQKLKLLPEE
RLRNLFSYDGIWLFPKNQCKCEANKEQGGYNFQDAYGQSDLPAVKARRQAEFEHFQRREG
LPRPLPLLVQPNLPFGYPVHGVEVMPLHTVPIPGLQFEGPDAPVYEVTLTASLGTLNTLA
DVPDSVVQGRGQKQLIISTSDRKLLKFILQHVTYTSTGYQHQKVDIVSLESRSSVAKFPV
TIRHPVIPKLYDPGPERKLRNLVTIATKTFLRPHKLMIMLRSIREYYPDLTVIVADDSQK
PLEIKDNHVEYYTMPFGKGWFAGRNLAISQVTTKYVLWVDDDFLFNEETKIEVLVDVLEK
TELDVVGGSVLGNVFQFKLLLEQSENGACLHKRMGFFQPLDGFPSCVVTSGVVNFFLAHT
ERLQRVGFDPRLQRVAHSEFFIDGLGTLLVGSCPEVIIGHQSRSPVVDSELAALEKTYNT
YRSNTLTRVQFKLALHYFKNHLQCAA
Sequence length 566
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG  Reactome
  Glycosphingolipid biosynthesis - lacto and neolacto series
Metabolic pathways 		  Asparagine N-linked glycosylation
Lewis blood group biosynthesis
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
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Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (6)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
BLOOD GROUP, SID SYSTEM Benign; Affects rs72835417, rs7224888, rs148441237, rs61743617 RCV001794483
RCV001794492
RCV001789793
RCV001796332
Cholangiocarcinoma Benign rs72835417 RCV005920383
Colorectal cancer Benign rs72835417 RCV005920380
Nonpapillary renal cell carcinoma Benign rs72835417 RCV005920379
Show/Hide Text Mining Associations (9)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Breast Neoplasms Associate 39261800
Carcinogenesis Associate 33919332
Colorectal Neoplasms Associate 32290493
Colorectal Neoplasms Inhibit 32911675, 33919332
Coronary Artery Disease Associate 31830326
Crohn Disease Associate 39261800
Leukemia Associate 20484983
Leukemia Lymphocytic Chronic B Cell Associate 20484983
Neoplasms Inhibit 32290493, 32911675, 33919332