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

Gene Gene information from NCBI Gene database.
Gene SNPs Other IDs Associated diseases
Entrez ID 28
Gene name ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
Gene symbol ABO
Synonyms (NCBI Gene)
A3GALNTA3GALT1GTBNAGAT
Chromosome 9
Chromosome location 9q34.2
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` bloo
SNPs SNP information provided by dbSNP.
2
Gene SNPs Other IDs Associated diseases
Show/Hide all (2)
SNP ID Visualize variation Clinical significance Consequence
rs55722397 G>C Affects Missense variant, coding sequence variant
rs56392308 G>- Affects Frameshift variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
13
Gene SNPs Other IDs Associated diseases
Show/Hide all (13)
miRTarBase ID miRNA Experiments Reference
MIRT1924317 hsa-miR-1908 CLIP-seq
MIRT1924318 hsa-miR-3650 CLIP-seq
MIRT1924319 hsa-miR-4455 CLIP-seq
MIRT1924320 hsa-miR-4706 CLIP-seq
MIRT1924321 hsa-miR-4728-5p CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
Gene SNPs Other IDs Associated diseases
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GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane TAS
GO:0000166 Function Nucleotide binding IMP 12198488
GO:0003823 Function Antigen binding IMP 12198488
GO:0004380 Function Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IBA
GO:0004380 Function Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
Gene SNPs Other IDs Associated diseases
MIM HGNC e!Ensembl
110300 79 ENSG00000175164
Protein Protein information from UniProt database.
Gene SNPs Other IDs Associated diseases
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P16442
Protein name Histo-blood group ABO system transferase (Fucosylglycoprotein 3-alpha-galactosyltransferase) (Fucosylglycoprotein alpha-N-acetylgalactosaminyltransferase) (Glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase) (EC 2.4.1.40) (Glycoprotei
Protein 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 (b
PDB 1LZ0 , 1LZ7 , 1LZI , 1LZJ , 1R7T , 1R7U , 1R7V , 1R7X , 1R7Y , 1R80 , 1R81 , 1R82 , 1WSZ , 1WT0 , 1WT1 , 1WT2 , 1WT3 , 1XZ6 , 1ZHJ , 1ZI1 , 1ZI3 , 1ZI4 , 1ZI5 , 1ZIZ , 1ZJ0 , 1ZJ1 , 1ZJ2 , 1ZJ3 , 1ZJO , 1ZJP , 2A8U , 2A8W , 2I7B , 2O1F , 2O1G , 2O1H , 2PGV , 2PGY , 2RIT , 2RIX , 2RIY , 2RIZ , 2RJ0 , 2RJ1 , 2RJ4 , 2RJ5 , 2RJ6 , 2RJ7 , 2RJ8 , 2RJ9 , 2Y7A
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03414 Glyco_transf_6 35 → 353 Glycosyltransferase family 6 Family
Tissue specificity TISSUE SPECIFICITY: Expressed at high levels in testis. Also expressed in pancreas, uterus and lung and salivary gland. {ECO:0000269|PubMed:7598760}.
Sequence
Sequence length 354
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
92
Gene SNPs Other IDs Associated diseases
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Show/Hide Unknown Diseases (92)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
ABO blood group system association; Affects; Benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ABO-related disorder Likely benign ClinVar
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA — GWAS catalog
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANEMIA, HEMOLYTIC — Disgenet
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Show/Hide Text Mining Associations (355)
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Acute Cerebrovascular Accidents Stroke CTD_human_DG 29531354
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Coronary Syndrome Coronary Syndrome BEFREE 26600159
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute leukemia Leukemia BEFREE 10391104, 17065136, 28963906, 6127543
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute lymphocytic leukemia Lymphocytic Leukemia BEFREE 17065136, 29334169
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute monocytic leukemia Monocytic Leukemia BEFREE 28939368, 30324575
★★★★★
★☆☆☆☆
Found in Text Mining only
Acute Promyelocytic Leukemia Promyelocytic Leukemia BEFREE 28963906
★★★★★
★☆☆☆☆
Found in Text Mining only
Adenocarcinoma Adenocarcinoma BEFREE 22642827
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Acute Lymphocytic Leukemia Lymphocytic Leukemia BEFREE 17065136, 29334169
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Diffuse Large B-Cell Lymphoma B-cell Lymphoma BEFREE 22670181
★★★★★
★☆☆☆☆
Found in Text Mining only
Adult Hepatocellular Carcinoma Liver carcinoma BEFREE 23300138
★★★★★
★☆☆☆☆
Found in Text Mining only