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
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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 categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
36
Gene SNPs Other IDs Associated diseases
Show/Hide Unknown Diseases (5)
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2118940061, rs8176749, rs8176746, rs8176741, rs7853989, rs8176720, rs8176743, rs2490454028, rs2490453993, rs563704490, rs1053878 -
ABO blood group system association; Affects; Benign rs1554760445, rs507666, rs532436, rs2519093, rs782544248, rs2490441566, rs1556058284, rs56392308, rs55722397 RCV001527067
RCV001527068
RCV001527069
RCV001527070
RCV001543625
RCV002286564
RCV000019309
RCV000019311
RCV000019313
ABO-related disorder Likely benign rs8176744, rs2490918899 RCV003909496
RCV003909573
Severely weakened expression of A on erythrocytes Affects; Benign rs782544248, rs1554758313, rs782760415 RCV003315368
RCV003315396
RCV003315397
Show/Hide Text Mining Associations (134)
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Acute Coronary Syndrome Associate 26600159, 37334748
Adenocarcinoma Mucinous Associate 26075384
Alcoholism Associate 21792085
Alzheimer Disease Associate 25668062, 37334594
amyloidosis IX Associate 21829393
Anemia Sickle Cell Associate 15679419, 33666655, 37426651
Anxiety Associate 31871497
Asthma Associate 11491170, 33328473
Atherosclerosis Associate 27542834
Atrial Fibrillation Associate 40304040