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

Gene

• Entrez ID: 124872
• Gene name: Beta-1,4-N-acetyl-galactosaminyltransferase 2 (SID blood group)
• Gene symbol: B4GALNT2
• Synonyms (NCBI Gene): B4GALT, GALGT2
• 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

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
MIRT813466	hsa-miR-548an	CLIP-seq
MIRT813467	hsa-miR-940	CLIP-seq

Gene ontology (GO)

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
GO:0006047	Process	UDP-N-acetylglucosamine metabolic process	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IBA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IDA	12678917, 14688233
GO:0008376	Function	Acetylgalactosaminyltransferase activity	IEA
GO:0008376	Function	Acetylgalactosaminyltransferase activity	TAS
GO:0009312	Process	Oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	12678917, 14688233
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0017038	Process	Protein import	IEA
GO:0018279	Process	Protein N-linked glycosylation via asparagine	TAS
GO:0019276	Process	UDP-N-acetylgalactosamine metabolic process	IBA
GO:0019276	Process	UDP-N-acetylgalactosamine metabolic process	IDA	12678917, 14688233
GO:0022408	Process	Negative regulation of cell-cell adhesion	IDA	16024623
GO:0030659	Component	Cytoplasmic vesicle membrane	IEA
GO:0031410	Component	Cytoplasmic vesicle	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IEA
GO:0098528	Process	Skeletal muscle fiber differentiation	IEA
GO:1901137	Process	Carbohydrate derivative biosynthetic process	IEA

Other IDs

• MIM: 111730
• HGNC: 24136
• e!Ensembl: ENSG00000167080

Protein

• UniProt ID: 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

Pathways

KEGG:

Glycosphingolipid biosynthesis - lacto and neolacto series
Metabolic pathways

Reactome:

Asparagine N-linked glycosylation
Lewis blood group biosynthesis

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BLOOD GROUP, SID SYSTEM	Benign; Affects	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GASTROESOPHAGEAL REFLUX DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Neoplasms	Breast neoplasm	Pubtator	39261800	Associate	★☆☆☆☆ Found in Text Mining only
CAMPOMELIC DYSPLASIA	Campomelic Dysplasia	BEFREE	17584082		★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	33919332	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	18485915		★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32290493	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32911675, 33919332	Inhibit	★☆☆☆☆ Found in Text Mining only
Coronary Artery Disease	Coronary artery disease	GWASCAT_DG	29212778		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coronary Artery Disease	Coronary artery disease	Pubtator	31830326	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT	Craniometaphyseal Dysplasia	BEFREE	17584082		★☆☆☆☆ Found in Text Mining only
Crohn Disease	Crohn disease	Pubtator	39261800	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia	Leukemia	Pubtator	20484983	Associate	★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	23744354		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of gastrointestinal tract	Malignant gastrointestinal tract tumors	BEFREE	18485915		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	24953560, 25213663		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy	Muscular dystrophy	BEFREE	17584082		★☆☆☆☆ Found in Text Mining only
Muscular Dystrophy, Duchenne	Duchenne Muscular Dystrophy	BEFREE	17584082		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	29546034		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach Neoplasms	LHGDN	18485915		★☆☆☆☆ Found in Text Mining only
Xanthomatosis, Cerebrotendinous	Cholestanol storage disease	BEFREE	22734004		★☆☆☆☆ Found in Text Mining only