ABO

ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase, the group of Blood group antigens|Glycosyltransferase family 6

Basic information

Region (hg38): 9:133233278-133276024

Links

ENSG00000175164 ∙ NCBI:28 ∙ OMIM:110300 ∙ HGNC:79 ∙ Uniprot:P16442 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Blood group, ABO system	BG	Hematologic	Variants associated with a blood group may be important in specific situations (eg, related to transfusion)	Hematologic	4014172; 2647864; 2333095; 1303212; 1572640; 8075282; 7772867; 9099833; 11520811; 12014997; 12829588; 17959777

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ABO gene.

• - (13 variants)
• Three Vessel Coronary Disease (9 variants)
• ABO blood group system (8 variants)
• not provided (4 variants)
• Severely weakened expression of A on erythrocytes (3 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABO gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	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

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• 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.
• Pathway: Glycosphingolipid biosynthesis - lacto and neolacto series - Homo sapiens (human);Globo Sphingolipid Metabolism;Hematopoietic Stem Cell Differentiation;Glycosphingolipid biosynthesis - lactoseries;Glycosphingolipid biosynthesis - neolactoseries (Consensus)

Recessive Scores

• pRec: 0.829

Haploinsufficiency Scores

• pHI: 0.133

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.186

Mouse Genome Informatics

• Gene name: Abo

Gene ontology

• Biological process: carbohydrate metabolic process;protein glycosylation;lipid glycosylation
• Cellular component: extracellular region;Golgi apparatus;integral component of membrane;vesicle;Golgi cisterna membrane
• Molecular function: nucleotide binding;antigen binding;glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity;fucosylgalactoside 3-alpha-galactosyltransferase activity;transferase activity, transferring glycosyl groups;manganese ion binding