A3GALT2 - alpha 1,3-galactosyltransferase 2 Gene

Also Known as IGB3S; IGBS3S; A3GALT2P

Species: Homo sapiens

Gene Type: protein coding
Gene ID: 127550

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
Molecular Function GO Annotation Evidence References 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

Glyco_transf_6: Glycosyltransferase family 6 (63 - 340)

  • 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

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
Others A3GALT2 NCBI