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 translati... See more...

Aliases for ABO Gene

Aliases for ABO Gene

  • ABO, Alpha 1-3-N-Acetylgalactosaminyltransferase And Alpha 1-3-Galactosyltransferase 2 3 5
  • ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase; Transferase B, Alpha 1-3-Galactosyltransferase) 2 3
  • Histo-Blood Group ABO System Transferase 3 4
  • A3GALNT 2 3
  • A3GALT1 2 3
  • NAGAT 3 4
  • Glycoprotein-Fucosylgalactoside Alpha-N-Acetylgalactosaminyltransferase 4
  • Fucosylglycoprotein Alpha-N-Acetylgalactosaminyltransferase 4
  • Glycoprotein-Fucosylgalactoside Alpha-Galactosyltransferase 4
  • Fucosylglycoprotein 3-Alpha-Galactosyltransferase 4
  • B(A) Alpha-1,3-Galactosyltransferase 3
  • Histo-Blood Group A2 Transferase 3
  • Histo-Blood Group A Transferase 4
  • Histo-Blood Group B Transferase 4
  • A Transferase 4
  • B Transferase 4
  • EC 2.4.1.40 4
  • EC 2.4.1.37 4
  • GTB 3
  • ABO 5

External Ids for ABO Gene

Previous GeneCards Identifiers for ABO Gene

  • GC09M127220
  • GC09M127687
  • GC09M129484
  • GC09M131407
  • GC09M133160
  • GC09M135120
  • GC09M136130
  • GC09M105623

Summaries for ABO Gene

Entrez Gene Summary for ABO Gene

  • 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, Sep 2019]

GeneCards Summary for ABO Gene

ABO (ABO, Alpha 1-3-N-Acetylgalactosaminyltransferase And Alpha 1-3-Galactosyltransferase) is a Protein Coding gene. Diseases associated with ABO include Epiglottis Cancer and Orbital Tenonitis. Among its related pathways are Hematopoietic Stem Cell Differentiation and Glycosphingolipid biosynthesis - lacto and neolacto series. Gene Ontology (GO) annotations related to this gene include transferase activity, transferring hexosyl groups and fucosylgalactoside 3-alpha-galactosyltransferase activity. An important paralog of this gene is GBGT1.

UniProtKB/Swiss-Prot Summary for ABO Gene

  • 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.

Gene Wiki entry for ABO Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ABO Gene

Genomics for ABO Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for ABO Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ABO on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for ABO

Top Transcription factor binding sites by QIAGEN in the ABO gene promoter:
  • C/EBPalpha
  • CUTL1
  • IRF-7A
  • MyoD
  • Sp1

Genomic Locations for ABO Gene

Genomic Locations for ABO Gene
chr9:133,250,401-133,276,024
(GRCh38/hg38)
Size:
25,624 bases
Orientation:
Minus strand
chr9:136,125,788-136,150,630
(GRCh37/hg19)
Size:
24,843 bases
Orientation:
Minus strand

Genomic View for ABO Gene

Genes around ABO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ABO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ABO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ABO Gene

Proteins for ABO Gene

  • Protein details for ABO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P16442-BGAT_HUMAN
    Recommended name:
    Histo-blood group ABO system transferase
    Protein Accession:
    P16442
    Secondary Accessions:
    • B0JDB9
    • O14758
    • Q14490
    • Q53I57
    • Q6ISD4
    • Q6KFZ2
    • Q70V27
    • Q99484
    • Q99485
    • Q9NY01
    • Q9UQ68
    • Q9UQ69

    Protein attributes for ABO Gene

    Size:
    354 amino acids
    Molecular mass:
    40934 Da
    Cofactor:
    Name=Mn(2+); Xref=ChEBI:CHEBI:29035;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for ABO Gene

neXtProt entry for ABO Gene

Post-translational modifications for ABO Gene

  • The soluble form derives from the membrane form by proteolytic processing.
  • Glycosylation at Asn113
  • Modification sites at PhosphoSitePlus

Other Protein References for ABO Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Boster Bio Antibodies for ABO

No data available for DME Specific Peptides for ABO Gene

Domains & Families for ABO Gene

Gene Families for ABO Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins
  • Predicted secreted proteins

Protein Domains for ABO Gene

InterPro:
Blocks:
  • Glycosyl transferase, family 6
ProtoNet:

Suggested Antigen Peptide Sequences for ABO Gene

GenScript: Design optimal peptide antigens:
  • Alpha 1-3-N-acetylgactosaminyltransferase (A1EAJ6_HUMAN)
  • Cis ABO5 glycosyltransferase (A1Z626_HUMAN)
  • ABO-glycosyltransferase B (A5X6H3_HUMAN)
  • ABO-glycosyltransferase B (A5X6H4_HUMAN)
  • ABO-glycosyltransferase B (A5X6H5_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P16442

UniProtKB/Swiss-Prot:

BGAT_HUMAN :
  • The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis.
  • Belongs to the glycosyltransferase 6 family.
Domain:
  • The conserved DXD motif is involved in cofactor binding. The manganese ion interacts with the beta-phosphate group of UDP and may also have a role in catalysis.
Family:
  • Belongs to the glycosyltransferase 6 family.
genes like me logo Genes that share domains with ABO: view

Function for ABO Gene

Molecular function for ABO Gene

UniProtKB/Swiss-Prot 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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an alpha-L-fucosyl-(1->2)-beta-D-galactosyl derivative + UDP-N-acetyl-alpha-D-galactosamine = an N-acetyl-alpha-D-galactosaminyl-(1->3)-[alpha-L-fucosyl-(1->2)]-beta-D-galactosyl derivative + H(+) + UDP; Xref=Rhea:RHEA:19021, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:67138, ChEBI:CHEBI:140327, ChEBI:CHEBI:140559; EC=2.4.1.40; Evidence={ECO:0000269|PubMed:12198488, ECO:0000269|PubMed:17259183};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=an alpha-L-fucosyl-(1->2)-beta-D-galactosyl derivative + UDP-alpha-D-galactose = an alpha-D-galactosyl-(1->3)-[alpha-L-fucosyl-(1->2)]-beta-D-galactosyl derivative + H(+) + UDP; Xref=Rhea:RHEA:14349, ChEBI:CHEBI:15378, ChEBI:CHEBI:58223, ChEBI:CHEBI:66914, ChEBI:CHEBI:140327, ChEBI:CHEBI:140328; EC=2.4.1.37; Evidence={ECO:0000269|PubMed:12198488, ECO:0000269|PubMed:17259183};.

Enzyme Numbers (IUBMB) for ABO Gene

Phenotypes From GWAS Catalog for ABO Gene

Gene Ontology (GO) - Molecular Function for ABO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000166 nucleotide binding IMP 12198488
GO:0003823 antigen binding IMP 12198488
GO:0004380 glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IEA --
GO:0004381 fucosylgalactoside 3-alpha-galactosyltransferase activity IEA --
GO:0016757 transferase activity, transferring glycosyl groups IBA 21873635
genes like me logo Genes that share ontologies with ABO: view
genes like me logo Genes that share phenotypes with ABO: view

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABO

No data available for Human Phenotype Ontology , Animal Models , miRNA , Transcription Factor Targets and HOMER Transcription for ABO Gene

Localization for ABO Gene

Subcellular locations from UniProtKB/Swiss-Prot for ABO Gene

Golgi apparatus, Golgi stack membrane. Single-pass type II membrane protein. Secreted. Note=Membrane-bound form in trans cisternae of Golgi. Secreted into the body fluid.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ABO gene
Compartment Confidence
extracellular 5
golgi apparatus 5
plasma membrane 2
nucleus 2
cytosol 2
cytoskeleton 1
mitochondrion 1
endoplasmic reticulum 1
endosome 1
lysosome 1

Gene Ontology (GO) - Cellular Components for ABO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region IEA --
GO:0005794 Golgi apparatus IBA 21873635
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
GO:0031982 vesicle IBA 21873635
genes like me logo Genes that share ontologies with ABO: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ABO Gene

Pathways & Interactions for ABO Gene

genes like me logo Genes that share pathways with ABO: view

Pathways by source for ABO Gene

UniProtKB/Swiss-Prot P16442-BGAT_HUMAN

  • Pathway: Protein modification; protein glycosylation.

Interacting Proteins for ABO Gene

Gene Ontology (GO) - Biological Process for ABO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005975 carbohydrate metabolic process IEA --
GO:0006486 protein glycosylation IEA --
GO:0030259 lipid glycosylation IBA 21873635
genes like me logo Genes that share ontologies with ABO: view

No data available for SIGNOR curated interactions for ABO Gene

Drugs & Compounds for ABO Gene

(22) Drugs for ABO Gene - From: DrugBank, PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Manganese Approved Nutra 56
Uridine 5'-diphosphate Experimental Pharma Target 0
Uridine diphosphategalactose Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol Experimental Pharma Target 0
2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,5-Diol Experimental Pharma Target 0

(8) Additional Compounds for ABO Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Lactosamine
  • 2-amino-2-Deoxy-4-O-beta-D-galactopyranosyl-D-glucose
  • 2-amino-2-Deoxy-4-O-beta-delta-galactopyranosyl-delta-glucose
  • beta-D-Galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose
  • beta-D-Galactopyranosyl-(1->4)-D-glucosamine
  • beta-delta-Galactopyranosyl-(1->4)-2-amino-2-deoxy-delta-glucose
13000-25-4
Uridine diphosphate-N-acetylgalactosamine
  • UDP-N-Acetyl-D-galactosamine
  • UDP-N-Acetyl-delta-galactosamine
  • UDP-N-Acetylgalactosamine
  • Uridine 5'-diphospho-N-acetylgalactosamine
  • Uridine diphosphate-N-acetyl-D-galactosamine
7277-98-7
genes like me logo Genes that share compounds with ABO: view

Transcripts for ABO Gene

mRNA/cDNA for ABO Gene

1 REFSEQ mRNAs :
35 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ABO

Alternative Splicing Database (ASD) splice patterns (SP) for ABO Gene

ExUns: 1 ^ 2a · 2b ^ 3 ^ 4 ^ 5 ^ 6a · 6b · 6c ^ 7 ^ 8a · 8b · 8c
SP1: - -
SP2: - -
SP3: - - - -
SP4:

Relevant External Links for ABO Gene

GeneLoc Exon Structure for
ABO

Expression for ABO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for ABO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ABO Gene

This gene is overexpressed in Colon - Transverse (x8.6), Esophagus - Mucosa (x4.8), and Small Intestine - Terminal Ileum (x4.4).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for ABO

SOURCE GeneReport for Unigene cluster for ABO Gene:

Hs.654423

Evidence on tissue expression from TISSUES for ABO Gene

  • Blood(4.6)
  • Saliva(2.2)
  • Heart(2.2)
  • Kidney(2.2)
  • Skin(2.1)
genes like me logo Genes that share expression patterns with ABO: view

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ABO Gene

Orthologs for ABO Gene

This gene was present in the common ancestor of mammals.

Orthologs for ABO Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia ABO 30
  • 98.49 (n)
Rat
(Rattus norvegicus)
Mammalia Abo2 30
  • 78.35 (n)
Cow
(Bos Taurus)
Mammalia ABO 30
  • 77.51 (n)
Dog
(Canis familiaris)
Mammalia ABO 30
  • 76.42 (n)
Mouse
(Mus musculus)
Mammalia Abo 30 17
  • 75.61 (n)
Species where no ortholog for ABO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Fruit Fly (Drosophila melanogaster)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Lizard (Anolis carolinensis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Oppossum (Monodelphis domestica)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Tropical Clawed Frog (Silurana tropicalis)
  • Wheat (Triticum aestivum)
  • Worm (Caenorhabditis elegans)
  • Zebrafish (Danio rerio)

Evolution for ABO Gene

ENSEMBL:
Gene Tree for ABO (if available)
TreeFam:
Gene Tree for ABO (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ABO: view image

Paralogs for ABO Gene

Paralogs for ABO Gene

(4) SIMAP similar genes for ABO Gene using alignment to 242 proteins:

  • BGAT_HUMAN
  • A1EAJ6_HUMAN
  • A1Z626_HUMAN
  • A5X6H3_HUMAN
  • A5X6H4_HUMAN
  • A5X6H5_HUMAN
  • A5X6H7_HUMAN
  • A5X6H8_HUMAN
  • A5X6H9_HUMAN
  • A8D971_HUMAN
  • A8E057_HUMAN
  • A8E058_HUMAN
  • A9QUS2_HUMAN
  • A9UHN3_HUMAN
  • A9UHN4_HUMAN
  • B0B1U2_HUMAN
  • B0FY45_HUMAN
  • B0FY46_HUMAN
  • B0FY48_HUMAN
  • B0FY49_HUMAN
  • B0LVD8_HUMAN
  • B1AC83_HUMAN
  • B2CPK0_HUMAN
  • B2CPK1_HUMAN
  • B2CW70_HUMAN
  • B5LYM4_HUMAN
  • B5TRS7_HUMAN
  • B6E948_HUMAN
  • B6E949_HUMAN
  • B8Y570_HUMAN
  • C1K0H8_HUMAN
  • C3VA42_HUMAN
  • C3VA43_HUMAN
  • C3VA44_HUMAN
  • C3VA45_HUMAN
  • C3VA47_HUMAN
  • C5J4L4_HUMAN
  • C6KD89_HUMAN
  • C6KD90_HUMAN
  • C6KD91_HUMAN
  • C6KD92_HUMAN
  • C6KIE4_HUMAN
  • C6KIE5_HUMAN
  • D3HIC2_HUMAN
  • D3HIC3_HUMAN
  • D3HIC4_HUMAN
  • D3YE67_HUMAN
  • D7RNR0_HUMAN
  • D8MIB7_HUMAN
  • D8MIB8_HUMAN
  • E0ZMB5_HUMAN
  • E1Y3Y6_HUMAN
  • E1Y3Y7_HUMAN
  • E3T200_HUMAN
  • E3T201_HUMAN
  • E3T202_HUMAN
  • E3T203_HUMAN
  • E3T204_HUMAN
  • E3T205_HUMAN
  • E3T206_HUMAN
  • E3T387_HUMAN
  • E3T388_HUMAN
  • E3TGR9_HUMAN
  • E3TGS0_HUMAN
  • E3TGS1_HUMAN
  • E5L3Z6_HUMAN
  • F0X353_HUMAN
  • F0X357_HUMAN
  • F0X359_HUMAN
  • F0X360_HUMAN
  • F0X362_HUMAN
  • F0X363_HUMAN
  • F0X364_HUMAN
  • F2X1S4_HUMAN
  • G0V4X4_HUMAN
  • G3FEP9_HUMAN
  • G3FM75_HUMAN
  • G8IIL0_HUMAN
  • G9HR99_HUMAN
  • H6A2X0_HUMAN
  • H6UK81_HUMAN
  • H6UK82_HUMAN
  • H6UK83_HUMAN
  • H6VPB4_HUMAN
  • H9XVR5_HUMAN
  • I1VEE1_HUMAN
  • I1VYG6_HUMAN
  • I6SWF8_HUMAN
  • I6TS22_HUMAN
  • I6U2M5_HUMAN
  • I7APP0_HUMAN
  • J9XP05_HUMAN
  • J9XP21_HUMAN
  • J9XT30_HUMAN
  • J9XV13_HUMAN
  • K4INT6_HUMAN
  • K4MMM0_HUMAN
  • K4MQF1_HUMAN
  • K4MTH0_HUMAN
  • M9QZC0_HUMAN
  • O14759_HUMAN
  • O15512_HUMAN
  • Q102J2_HUMAN
  • Q15951_HUMAN
  • Q1L131_HUMAN
  • Q207T9_HUMAN
  • Q2LFC5_HUMAN
  • Q2LFC6_HUMAN
  • Q2PJQ0_HUMAN
  • Q2PJQ1_HUMAN
  • Q2PJQ2_HUMAN
  • Q2PJQ3_HUMAN
  • Q2VU69_HUMAN
  • Q2VU70_HUMAN
  • Q3ZMG8_HUMAN
  • Q45L90_HUMAN
  • Q45L91_HUMAN
  • Q4JGX0_HUMAN
  • Q4JGX1_HUMAN
  • Q4JGX2_HUMAN
  • Q4LAQ2_HUMAN
  • Q4VVG1_HUMAN
  • Q4VY24_HUMAN
  • Q538Y8_HUMAN
  • Q538Y9_HUMAN
  • Q56S51_HUMAN
  • Q56S52_HUMAN
  • Q56S53_HUMAN
  • Q56S55_HUMAN
  • Q5VJ25_HUMAN
  • Q679L5_HUMAN
  • Q67BB2_HUMAN
  • Q6IS73_HUMAN
  • Q6L635_HUMAN
  • Q6L636_HUMAN
  • Q6L637_HUMAN
  • Q6L638_HUMAN
  • Q6L639_HUMAN
  • Q6L640_HUMAN
  • Q6L641_HUMAN
  • Q6L643_HUMAN
  • Q6L644_HUMAN
  • Q6L645_HUMAN
  • Q6L647_HUMAN
  • Q6L648_HUMAN
  • Q6LCV2_HUMAN
  • Q6PNN6_HUMAN
  • Q6R5A7_HUMAN
  • Q6R5J3_HUMAN
  • Q6R675_HUMAN
  • Q70V10_HUMAN
  • Q70V12_HUMAN
  • Q70V13_HUMAN
  • Q70V15_HUMAN
  • Q70V16_HUMAN
  • Q70V22_HUMAN
  • Q70V24_HUMAN
  • Q70V25_HUMAN
  • Q70V26_HUMAN
  • Q70V29_HUMAN
  • Q70V30_HUMAN
  • Q70V31_HUMAN
  • Q70V32_HUMAN
  • Q70V33_HUMAN
  • Q70V35_HUMAN
  • Q70V37_HUMAN
  • Q70V39_HUMAN
  • Q70V41_HUMAN
  • Q7LCZ1_HUMAN
  • Q7Z535_HUMAN
  • Q8N3W8_HUMAN
  • Q8NFW0_HUMAN
  • Q8WWJ1_HUMAN
  • Q8WXY5_HUMAN
  • Q8WXY6_HUMAN
  • Q8WXY7_HUMAN
  • Q8WXY8_HUMAN
  • Q8WXY9_HUMAN
  • Q8WXZ0_HUMAN
  • Q8WXZ1_HUMAN
  • Q8WXZ2_HUMAN
  • Q8WXZ3_HUMAN
  • Q8WXZ4_HUMAN
  • Q8WXZ5_HUMAN
  • Q8WXZ6_HUMAN
  • Q8WXZ7_HUMAN
  • Q99477_HUMAN
  • Q99478_HUMAN
  • Q99479_HUMAN
  • Q99480_HUMAN
  • Q99481_HUMAN
  • Q99482_HUMAN
  • Q99483_HUMAN
  • Q99486_HUMAN
  • Q99488_HUMAN
  • Q9BQ97_HUMAN
  • Q9C087_HUMAN
  • Q9C088_HUMAN
  • Q9C089_HUMAN
  • Q9C090_HUMAN
  • Q9NPA6_HUMAN
  • Q9NY02_HUMAN
  • Q9UBW4_HUMAN
  • Q9UIR1_HUMAN
  • Q9UK42_HUMAN
  • Q9UMY6_HUMAN
  • Q9UMY7_HUMAN
  • Q9UMY8_HUMAN
  • Q9UP69_HUMAN
  • Q9UP70_HUMAN
  • Q9UQ62_HUMAN
  • Q9UQ63_HUMAN
  • Q9UQ64_HUMAN
  • Q9UQ65_HUMAN
  • Q9UQ66_HUMAN
  • Q9UQ67_HUMAN
  • T1WHV8_HUMAN
  • U5NJV0_HUMAN
  • U5NKB0_HUMAN
  • U5NNF6_HUMAN
  • U5NNJ6_HUMAN
  • U5YJY7_HUMAN
  • U5YJZ4_HUMAN
  • U5YK38_HUMAN
  • U5YKX4_HUMAN
  • U5YMY3_HUMAN
  • U5YN54_HUMAN
  • V5USW5_HUMAN
  • V5UU28_HUMAN
  • V5UUM3_HUMAN
  • V5UV59_HUMAN
  • V5ZDN8_HUMAN
  • V5ZDN9_HUMAN
  • V5ZDP0_HUMAN
  • V5ZDU5_HUMAN
  • V5ZDU6_HUMAN
  • V9GWR4_HUMAN
  • V9GWR5_HUMAN
  • V9GWR6_HUMAN
  • V9GWR7_HUMAN
  • W0LGR6_HUMAN
  • W0LH19_HUMAN

Pseudogenes.org Pseudogenes for ABO Gene

genes like me logo Genes that share paralogs with ABO: view

Variants for ABO Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for ABO Gene

BGAT_HUMAN-P16442
Genetic variations in ABO define the ABO blood group system [MIM:616093]. The ABO blood group system is the most important blood group system in blood transfusion. The sequence shown here is that of the A transferase. The B form differs by a few residues substitution. Residues 266 and 268 are important for specificity. The reference genome assembly (GRCh38/hg38) describes a non-functional O-type ABO allele. The O-type ABO allele results in a guanine deletion (NM_020469.2: c.286delG). This deletion induces a frameshift and creates a premature stop codon resulting in a truncated (117 amino acids) protein deprived of any glycosyltransferase activity (PubMed:2333095).

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for ABO Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
768332 Benign: not provided 133,259,834(-) C/. NO_SEQUENCE_ALTERATION
769757 Benign: not provided 133,258,116(-) G/A MISSENSE_VARIANT
769758 Benign: not provided 133,261,367(-) C/A MISSENSE_VARIANT
812626 Uncertain Significance: Three Vessel Coronary Disease 133,262,243(-) T/C INTRON_VARIANT
812627 Benign: Three Vessel Coronary Disease 133,266,942(-) A/. INTRON_VARIANT

Additional dbSNP identifiers (rs#s) for ABO Gene

Structural Variations from Database of Genomic Variants (DGV) for ABO Gene

Variant ID Type Subtype PubMed ID
dgv1267e201 CNV deletion 23290073
dgv1268e201 CNV deletion 23290073
dgv12930n54 CNV gain 21841781
dgv12932n54 CNV loss 21841781
dgv951n27 CNV gain 19166990
esv21618 CNV loss 19812545
esv2659903 CNV deletion 23128226
esv2662639 CNV deletion 23128226
esv2739138 CNV deletion 23290073
esv3621936 CNV loss 21293372
nsv1125319 OTHER inversion 24896259
nsv415441 CNV deletion 16902084
nsv442166 CNV loss 18776908
nsv469905 CNV gain 18288195
nsv516103 CNV loss 19592680
nsv615616 CNV loss 21841781
nsv615617 CNV gain 21841781
nsv615621 CNV loss 21841781
nsv818729 CNV loss 17921354
nsv951798 CNV deletion 24416366

Additional Variant Information for ABO Gene

Human Gene Mutation Database (HGMD)
ABO
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ABO

SNP Genotyping and Copy Number Assay Products

No data available for Variation tolerance for ABO Gene

Disorders for ABO Gene

MalaCards: The human disease database

(20) MalaCards diseases for ABO Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
epiglottis cancer
  • epiglottic cancer
orbital tenonitis
  • tenonitis
duodenal ulcer
  • curling ulcer
blood group incompatibility
plasmodium falciparum malaria
  • falciparum malaria
- elite association - COSMIC cancer census association via MalaCards
Search ABO in MalaCards View complete list of genes associated with diseases

Additional Disease Information for ABO

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
genes like me logo Genes that share disorders with ABO: view

No data available for UniProtKB/Swiss-Prot and Genatlas for ABO Gene

Publications for ABO Gene

  1. Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif. (PMID: 17259183) Persson M … Olsson ML (The Journal of biological chemistry 2007) 3 4 23
  2. A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase. (PMID: 12529355) Marcus SL … Palcic MM (The Journal of biological chemistry 2003) 3 4 23
  3. The structural basis for specificity in human ABO(H) blood group biosynthesis. (PMID: 12198488) Patenaude SI … Evans SV (Nature structural biology 2002) 3 4 23
  4. The molecular basis for the B(A) allele: an amino acid alteration in the human histoblood group B alpha-(1,3)-galactosyltransferase increases its intrinsic alpha-(1,3)-N-acetylgalactosaminyltransferase activity. (PMID: 10462501) Yu LC … Lin M (Biochemical and biophysical research communications 1999) 3 4 23
  5. Molecular genetic basis of the histo-blood group ABO system. (PMID: 2333095) Yamamoto F … Hakomori S (Nature 1990) 3 4 23

Products for ABO Gene

  • Signalway ELISA kits for ABO
  • Signalway Proteins for ABO

Sources for ABO Gene