ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase)

2007-02-01  

Identity

HGNC
LOCATION
9q34.2
LOCUSID
ALIAS
A3GALNT,A3GALT1,GTB,NAGAT

Other Information

Locus ID:

NCBI: 28
MIM: 110300
HGNC: 79
Ensembl: ENSG00000175164

Variants:

dbSNP: 28
ClinVar: 28
TCGA: ENSG00000175164
COSMIC: ABO

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000175164ENST00000538324A0A087X009
ENSG00000175164ENST00000611156A0A087X0C2

Expression (GTEx)

0
10
20
30
40
50
60
70

Pathways

PathwaySourceExternal ID
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGko00601
Glycosphingolipid biosynthesis - lacto and neolacto seriesKEGGhsa00601
Metabolic pathwaysKEGGhsa01100

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA164712308Ace Inhibitors, PlainChemicalClinicalAnnotationassociatedPD21832968
PA452637hormonal contraceptives for systemic useChemicalClinicalAnnotationassociatedPD28750087

References

Pubmed IDYearTitleCitations
377517742024ABO Blood Group and the Risk of Thrombosis in Cancer Patients: A Mini-Review.0
389463732024[Analysis of a Chinese pedigree with Bw subtype due to a novel variant of α-1,3-N-acetylgalactosaminyltransferase gene].0
377517742024ABO Blood Group and the Risk of Thrombosis in Cancer Patients: A Mini-Review.0
389463732024[Analysis of a Chinese pedigree with Bw subtype due to a novel variant of α-1,3-N-acetylgalactosaminyltransferase gene].0
360494762023Role of the ABO Blood Groups as a Risk Factor for Retinal Vein Occlusion.1
365358282023Mother-newborn ABO group discrepancy caused by a rare BW.17 variant.0
370768722023Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.11
360494762023Role of the ABO Blood Groups as a Risk Factor for Retinal Vein Occlusion.1
365358282023Mother-newborn ABO group discrepancy caused by a rare BW.17 variant.0
370768722023Genome-wide association analyses identified novel susceptibility loci for pulmonary embolism among Han Chinese population.11
351156892022Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort.118
351156902022Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project.95
354540752022The rs8176740 T/A and rs512770 T/C Genetic Variants of the ABO Gene Increased the Risk of COVID-19, as well as the Plasma Concentration Platelets.3
351156892022Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort.118
351156902022Effect of host genetics on the gut microbiome in 7,738 participants of the Dutch Microbiome Project.95

Citation

Dessen P

ABO (ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase)

Atlas Genet Cytogenet Oncol Haematol. 2007-02-01

Online version: http://atlasgeneticsoncology.org/gene/46430/abo