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.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense				1	4	5
nonsense					2	2
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1		7	8
Total	0	0	1	1	13

Variants in ABO

This is a list of pathogenic ClinVar variants found in the ABO region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-133255669-CG-C		ABO blood group system	Affects (Aug 31, 1992)
9-133255742-A-G		-	no classification for the single variant (-)
9-133255801-C-T		-	no classification for the single variant (-)
9-133255905-C-T		ABO-related disorder	Likely benign (Dec 17, 2020)
9-133255928-C-G		Three Vessel Coronary Disease	Benign (-)
9-133255935-G-T		-	no classification for the single variant (-)
9-133255963-G-A		ABO-related disorder	Likely benign (Dec 17, 2020)
9-133256028-C-T		-	no classification for the single variant (-)
9-133256031-G-C		ABO blood group system	Affects (Aug 27, 1999)
9-133256074-G-A		-	no classification for the single variant (-)
9-133256085-A-T		Three Vessel Coronary Disease	Benign (-)
9-133256202-C-T			Likely benign (Apr 01, 2023)
9-133256205-G-C		-	no classification for the single variant (-)
9-133256205-G-G		-	no classification for the single variant (-)
9-133256234-GT-G		-	no classification for the single variant (-)
9-133256264-G-A		-	no classification for the single variant (-)
9-133256963-T-C		Three Vessel Coronary Disease	Benign (-)
9-133257246-A-G		Three Vessel Coronary Disease	Benign (-)
9-133257486-T-C		-	no classification for the single variant (-)
9-133257486-T-G		-	no classification for the single variant (-)
9-133258116-G-A			Benign (Dec 31, 2019)
9-133259717-G-T		Three Vessel Coronary Disease	Benign (-)
9-133259834-C-C			Benign (Dec 19, 2019)
9-133261366-A-AC		ABO blood group system • Severely weakened expression of A on erythrocytes	Benign; Affects (Jul 12, 2023)
9-133261367-C-A			Benign (Dec 31, 2019)

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