Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	8707
Gene name	Beta-1,3-galactosyltransferase 2
Gene symbol	B3GALT2
Synonyms (NCBI Gene)	BETA3GALT2GLCT2beta3Gal-T2
Chromosome	1
Chromosome location	1q31.2
Summary	This gene is a member of the beta-1,3-galactosyltransferase (beta3GalT) gene family. This family encodes type II membrane-bound glycoproteins with diverse enzymatic functions using different donor substrates (UDP-galactose and UDP-N-acetylglucosamine) and

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miRTarBase ID	miRNA	Experiments
MIRT812935	hsa-miR-1245	CLIP-seq
MIRT812936	hsa-miR-1323	CLIP-seq
MIRT812937	hsa-miR-1470	CLIP-seq
MIRT812938	hsa-miR-2355-5p	CLIP-seq
MIRT812939	hsa-miR-323-3p	CLIP-seq
MIRT812940	hsa-miR-3674	CLIP-seq
MIRT812941	hsa-miR-3679-3p	CLIP-seq
MIRT812942	hsa-miR-4261	CLIP-seq
MIRT812943	hsa-miR-4307	CLIP-seq
MIRT812944	hsa-miR-4446-5p	CLIP-seq
MIRT812945	hsa-miR-4667-3p	CLIP-seq
MIRT812946	hsa-miR-4699-3p	CLIP-seq
MIRT812947	hsa-miR-4703-3p	CLIP-seq
MIRT812948	hsa-miR-4796-5p	CLIP-seq
MIRT812949	hsa-miR-494	CLIP-seq
MIRT812950	hsa-miR-548o	CLIP-seq
MIRT2179251	hsa-miR-137	CLIP-seq
MIRT2179252	hsa-miR-25	CLIP-seq
MIRT2179253	hsa-miR-32	CLIP-seq
MIRT2179254	hsa-miR-33a	CLIP-seq
MIRT2179255	hsa-miR-33b	CLIP-seq
MIRT2179256	hsa-miR-363	CLIP-seq
MIRT2179257	hsa-miR-367	CLIP-seq
MIRT2179258	hsa-miR-92a	CLIP-seq
MIRT2179259	hsa-miR-92b	CLIP-seq

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000139	Component	Golgi membrane	IBA
GO:0000139	Component	Golgi membrane	IEA
GO:0000139	Component	Golgi membrane	TAS
GO:0005515	Function	Protein binding	IPI	28514442, 33961781
GO:0005794	Component	Golgi apparatus	IEA
GO:0006486	Process	Protein glycosylation	IEA
GO:0006486	Process	Protein glycosylation	TAS	9417100
GO:0006493	Process	Protein O-linked glycosylation	IBA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006682	Process	Galactosylceramide biosynthetic process	IDA	9582303
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IBA
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IDA	9582303
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	IEA
GO:0008499	Function	N-acetyl-beta-D-glucosaminide beta-(1,3)-galactosyltransferase activity	TAS	9417100
GO:0009312	Process	Oligosaccharide biosynthetic process	IEA
GO:0009312	Process	Oligosaccharide biosynthetic process	TAS
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:1901137	Process	Carbohydrate derivative biosynthetic process	IEA

MIM	HGNC	e!Ensembl
603018	917	ENSG00000162630

O43825

Protein name

Beta-1,3-galactosyltransferase 2 (Beta-1,3-GalTase 2) (Beta3Gal-T2) (Beta3GalT2) (EC 2.4.1.86) (UDP-galactose:2-acetamido-2-deoxy-D-glucose 3beta-galactosyltransferase 2)

Protein function

Beta-1,3-galactosyltransferase that transfers galactose from UDP-galactose to substrates with a terminal beta-N-acetylglucosamine (beta-GlcNAc) residue. Can also utilize substrates with a terminal galactose residue, albeit with lower efficiency.

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF01762	Galactosyl_T	165 → 359	Galactosyltransferase	Family

Tissue specificity

TISSUE SPECIFICITY: Detected in heart and brain. {ECO:0000269|PubMed:9417100, ECO:0000269|PubMed:9582303}.

Sequence

MLQWRRRHCCFAKMTWNAKRSLFRTHLIGVLSLVFLFAMFLFFNHHDWLPGRAGFKENPV
TYTFRGFRSTKSETNHSSLRNIWKETVPQTLRPQTATNSNNTDLSPQGVTGLENTLSANG
SIYNEKGTGHPNSYHFKYIINEPEKCQEKSPFLILLIAAEPGQIEARRAIRQTWGNESLA
PGIQITRIFLLGLSIKLNGYLQRAILEESRQYHDIIQQEYLDTYYNLTIKTLMGMNWVAT
YCPHIPYVMKTDSDMFVNTEYLINKLLKPDLPPRHNYFTGYLMRGYAPNRNKDSKWYMPP
DLYPSERYPVFCSGTGYVFSGDLAEKIFKVSLGIRRLHLEDVYVGICLAKLRIDPVPPPN
EFVFNHWRVSYSSCKYSHLITSHQFQPSELIKYWNHLQQNKHNACANAAKEKAGRYRHRK
LH

Sequence length

422

Interactions

View interactions

	KEGG		Reactome
	Glycosphingolipid biosynthesis - lacto and neolacto series Metabolic pathways		Lewis blood group biosynthesis

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)

Show/Hide Unknown Diseases (1)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
HYPERPARATHYROIDISM 1	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

B3GALT2 (beta-1,3-galactosyltransferase 2)