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

Gene Gene information from NCBI Gene database. Gene Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	127550
Gene name	Alpha 1,3-galactosyltransferase 2
Gene symbol	A3GALT2
Synonyms (NCBI Gene)	A3GALT2PIGB3SIGBS3S
Chromosome	1
Chromosome location	1p35.1

Show/Hide all (17)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001962	Function	Alpha-1,3-galactosyltransferase activity	IDA	18630988
GO:0005794	Component	Golgi apparatus	IBA
GO:0005794	Component	Golgi apparatus	IEA
GO:0005975	Process	Carbohydrate metabolic process	IEA
GO:0006629	Process	Lipid metabolic process	IEA
GO:0006688	Process	Glycosphingolipid biosynthetic process	IBA
GO:0006688	Process	Glycosphingolipid biosynthetic process	IEA
GO:0016020	Component	Membrane	IEA
GO:0016740	Function	Transferase activity	IEA
GO:0016757	Function	Glycosyltransferase activity	IBA
GO:0016757	Function	Glycosyltransferase activity	IEA
GO:0016758	Function	Hexosyltransferase activity	IEA
GO:0031982	Component	Vesicle	IBA
GO:0032580	Component	Golgi cisterna membrane	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0047276	Function	N-acetyllactosaminide 3-alpha-galactosyltransferase activity	IEA
GO:0047276	Function	N-acetyllactosaminide 3-alpha-galactosyltransferase activity	ISS

MIM	HGNC	e!Ensembl
619850	30005	ENSG00000184389

U3KPV4

Protein name

Alpha-1,3-galactosyltransferase 2 (EC 2.4.1.87) (Isoglobotriaosylceramide synthase) (iGb3 synthase) (iGb3S)

Protein function

Synthesizes the galactose-alpha(1,3)-galactose group on the glycosphingolipid isoglobotrihexosylceramide or isogloboside 3 (iGb3) by catalyzing the transfer of galactose from UDP-Galactose to its acceptor molecule Gal-beta-1,4-Glc-ceramide. Can

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF03414	Glyco_transf_6	45 → 340	Glycosyltransferase family 6	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in thymus and monocyte derived dendritic cells. {ECO:0000269|PubMed:23378701}.

Sequence

MALKEGLRAWKRIFWRQILLTLGLLGLFLYGLPKFRHLEALIPMGVCPSATMSQLRDNFT
GALRPWARPEVLTCTPWGAPIIWDGSFDPDVAKQEARQQNLTIGLTIFAVGRYLEKYLER
FLETAEQHFMAGQSVMYYVFTELPGAVPRVALGPGRRLPVERVARERRWQDVSMARMRTL
HAALGGLPGREAHFMFCMDVDQHFSGTFGPEALAESVAQLHSWHYHWPSWLLPFERDAHS
AAAMAWGQGDFYNHAAVFGGSVAALRGLTAHCAGGLDWDRARGLEARWHDESHLNKFFWL
HKPAKVLSPEFCWSPDIGPRAEIRRPRLLWAPKGYRLLRN

Sequence length

340

Interactions

View interactions

	KEGG
	Glycosphingolipid biosynthesis - globo and isoglobo series Metabolic pathways

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 (2)

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.
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

A3GALT2 (alpha 1,3-galactosyltransferase 2)