ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Gene ID: 28, updated on 4-Nov-2024Gene type: protein coding
Also known as: GTB; NAGAT; A3GALNT; A3GALT1
- See all available tests in GTR for this gene
- Go to complete Gene record for ABO
- Go to Variation Viewer for ABO variants
Summary
This gene encodes proteins related to the first discovered blood group system, ABO. Variation in the ABO gene (chromosome 9q34.2) is the basis of the ABO blood group, thus the presence of an allele determines the blood group in an individual. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. [provided by RefSeq, Apr 2022]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome wide association study identifies common variants associated with lipid levels in the Chinese population. GeneReviews: Not available | |
| A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk. GeneReviews: Not available | |
| A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. GeneReviews: Not available | |
| A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium. GeneReviews: Not available | |
| A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor. GeneReviews: Not available | |
| A genome-wide association study identifies protein quantitative trait loci (pQTLs). GeneReviews: Not available | |
| A genome-wide association study identifies two new risk loci for Graves' disease. GeneReviews: Not available | |
| A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population. GeneReviews: Not available | |
| A genome-wide association study of circulating galectin-3. GeneReviews: Not available | |
| A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q. GeneReviews: Not available | |
| A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function. GeneReviews: Not available | |
| ABO blood group system | See labs |
| An atlas of genetic influences on human blood metabolites. GeneReviews: Not available | |
| Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
| Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach. GeneReviews: Not available | |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Fucosyltransferase 2 (FUT2) non-secretor status and blood group B are associated with elevated serum lipase activity in asymptomatic subjects, and an increased risk for chronic pancreatitis: a genetic association study. GeneReviews: Not available | |
| Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease. GeneReviews: Not available | |
| Genetic predictors of fibrin D-dimer levels in healthy adults. GeneReviews: Not available | |
| Genetic regulation of serum phytosterol levels and risk of coronary artery disease. GeneReviews: Not available | |
| Genetic Variants Associated with Serum Thyroid Stimulating Hormone (TSH) Levels in European Americans and African Americans from the eMERGE Network. GeneReviews: Not available | |
| Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes. GeneReviews: Not available | |
| Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China. GeneReviews: Not available | |
| Genetics of venous thrombosis: insights from a new genome wide association study. GeneReviews: Not available | |
| Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. GeneReviews: Not available | |
| Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci. GeneReviews: Not available | |
| Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin. GeneReviews: Not available | |
| Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma. GeneReviews: Not available | |
| Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. GeneReviews: Not available | |
| Genome-wide association study identifies new susceptibility loci for epithelial ovarian cancer in Han Chinese women. GeneReviews: Not available | |
| Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer. GeneReviews: Not available | |
| Genome-wide association study indicates two novel resistance loci for severe malaria. GeneReviews: Not available | |
| Genome-wide association study of hematological and biochemical traits in a Japanese population. GeneReviews: Not available | |
| Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links. GeneReviews: Not available | |
| Genome-wide association study on serum alkaline phosphatase levels in a Chinese population. GeneReviews: Not available | |
| Human metabolic individuality in biomedical and pharmaceutical research. GeneReviews: Not available | |
| Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies. GeneReviews: Not available | |
| Imputation-based meta-analysis of severe malaria in three African populations. GeneReviews: Not available | |
| Ischemic stroke is associated with the ABO locus: the EuroCLOT study. GeneReviews: Not available | |
| Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. GeneReviews: Not available | |
| Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits. GeneReviews: Not available | |
| Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels. GeneReviews: Not available | |
| Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. GeneReviews: Not available | |
| Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. GeneReviews: Not available | |
| Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. GeneReviews: Not available | |
| Novel loci affecting iron homeostasis and their effects in individuals at risk for hemochromatosis. GeneReviews: Not available | |
| Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. GeneReviews: Not available | |
| Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis. GeneReviews: Not available | |
| Seventy-five genetic loci influencing the human red blood cell. GeneReviews: Not available | |
| Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants. GeneReviews: Not available |
Genomic context
- Location:
- 9q34.2
- Sequence:
- Chromosome: 9; NC_000009.12 (133250401..133275201, complement)
- Total number of exons:
- 7
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ABO variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ABO database
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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