A3GALT2 (alpha 1,3-galactosyltransferase 2)

2014-11-01  

Identity

HGNC
LOCATION
1p35.1
LOCUSID
ALIAS
A3GALT2P,IGB3S,IGBS3S

Other Information

Locus ID:

NCBI: 127550
HGNC: 30005
Ensembl: ENSG00000184389

Variants:

dbSNP: 127550
ClinVar: 127550
TCGA: ENSG00000184389
COSMIC: A3GALT2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000184389ENST00000442999U3KPV4

Expression (GTEx)

0
1

Pathways

PathwaySourceExternal ID
Glycosphingolipid biosynthesis - globo and isoglobo seriesKEGGhsa00603

References

Pubmed IDYearTitleCitations
186309882008Humans lack iGb3 due to the absence of functional iGb3-synthase: implications for NKT cell development and transplantation.49

Citation

Dessen P

A3GALT2 (alpha 1,3-galactosyltransferase 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/60006/a3galt2