ABO
protein-codingABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase, the group of Blood group antigens|Glycosyltransferase family 6
Gene 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]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~42.7 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
Clinical Genomic Database (CGD)
Manifestation: Hematologic
Intervention: Hematologic
Rationale: Variants associated with a blood group may be important in specific situations (eg, related to transfusion)
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to ABO variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript . Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 1 | 4 | 5 | |||
| nonsense | 2 | 2 | ||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 0 | 1 | 6 | 7 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| Ensembl | ENSP00000483018.1 | 9 | Standard | |
| Ensembl | ENSP00000483265.1 | 8 | Standard | |
| Ensembl | ENSP00000483265.1 | 8 | Standard | |
| Ensembl | ENSP00000506089.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human)
- Globo Sphingolipid Metabolism
- Hematopoietic Stem Cell Differentiation
- Glycosphingolipid biosynthesis - lactoseries
- Glycosphingolipid biosynthesis - neolactoseries
Biological Process
- carbohydrate metabolic process
- protein glycosylation
- lipid glycosylation
Molecular Function
- nucleotide binding
- antigen binding
- glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity
- fucosylgalactoside 3-alpha-galactosyltransferase activity
- transferase activity, transferring glycosyl groups
Cellular Component
- extracellular region
- Golgi apparatus
- integral component of membrane
- vesicle
- Golgi cisterna membrane
dbNSFP Gene Annotations
Source:
- Function
- FUNCTION: This protein is the basis of the ABO blood group system. The histo-blood group ABO involves three carbohydrate antigens: A, B, and H. A, B, and AB individuals express a glycosyltransferase activity that converts the H antigen to the A antigen (by addition of UDP-GalNAc) or to the B antigen (by addition of UDP-Gal), whereas O individuals lack such activity.;
Recessive Scores
- pRec
- 0.829
Essentials
- Indispensability pred.
- N
- Indispensability score
- 0.186