A3GALT2 - alpha 1,3-galactosyltransferase 2 Gene

Homo sapiens

Also known as IGB3S; IGBS3S; A3GALT2P

Gene ID: 127550 | Gene type: protein coding

About A3GALT2

Cytogenetic location: 1p35.1 Genomic coordinates (GRCh38): 1:33,306,766-33,321,098 (from NCBI)

This gene has 1 transcript (splice variant), 220 orthologues and 3 paralogues. Low expression observed in reference dataset.

Summary

Predicted to enable N-acetyllactosaminide 3-alpha-galactosyltransferase activity and alpha-1,3-galactosyltransferase activity. Predicted to be involved in lipid glycosylation. Predicted to act upstream of or within glycosphingolipid biosynthetic process. Predicted to be located in Golgi cisterna membrane. Predicted to be integral component of membrane. Predicted to be active in Golgi apparatus and vesicle. [provided by Alliance of Genome Resources, Apr 2022]

A3GALT2 Products(1)

mRNA	Protein	Name
NM_001080438.1	NP_001073907.1	alpha-1,3-galactosyltransferase 2

Gene Ontology

Molecular Function

Molecular Function GO Annotation	Evidence	Reference	Source
NOT enables alpha-1,3-galactosyltransferase activity	IDA IDA: Inferred from direct assay	18630988	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

A3GALT2 Protein Structure

Glyco_transf_6

0
100
200
300
340 a.a.

Protein Preferred Names

Protein Names

alpha-1,3-galactosyltransferase 2

alpha 1,3-galactosyltransferase 2, pseudogene

Related Diseases

Diseases

Alias

Niemann-Pick Disease, Type C1

Niemann-Pick Disease, Type C	NPC1
Niemann-Pick Disease, Type D	Niemann-Pick Disease Type C1
Niemann-Pick Disease With Cholesterol Esterification Block	Niemann-Pick Disease, Subacute Juvenile Form
Neurovisceral Storage Disease With Vertical Supranuclear Ophthalmoplegia	Npc
Niemann-Pick Disease, Chronic Neuronopathic Form	Niemann-Pick Disease Without Sphingomyelinase Deficiency
Niemann-Pick Disease Type C	Niemann-Pick Disease Type D
Niemann-Pick C1 Disease	Niemann-Pick Disease C1
Niemann-Pick Disease Chronic Neuronopathic Form	Niemann-Pick Disease Nova Scotian Type
Niemann-Pick Disease Subacute Juvenile Form	Niemann-Pick Disease Type Ii
Niemann-Picks Disease Type C

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS00012	A3GALT2 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	A3GALT2	MGD	MGI:2685279
Bos taurus	A3GALT2	VGNC	VGNC:55323
Felis catus	A3GALT2	VGNC	VGNC:107482
Canis familiaris	A3GALT2	VGNC	VGNC:52212
Macaca mulatta	A3GALT2	VGNC	VGNC:69550
Rattus norvegicus	A3GALT2	RGD	RGD:727913

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