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ABO Gene

protein-coding   GIFtS: 61
GCID: GC09M136130

ABO Blood Group (Transferase A, Alpha 1-3-N-Acetylgalactosaminyltransferase;...

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
ABO Blood Group (Transferase A, Alpha
1-3-N-Acetylgalactosaminyltransferase; Transferase B, Alpha
1-3-Galactosyltransferase)1 2
     ABO A3 Transferase2
Fucosylglycoprotein 3-Alpha-Galactosyltransferase2 3     ABO Glycosyltransferase2
Fucosylglycoprotein Alpha-N-Acetylgalactosaminyltransferase2 3     ABO Weak Transfer2
Glycoprotein-Fucosylgalactoside Alpha-Galactosyltransferase2 3     B(A) Alpha-1,3-Galactosyltransferase2
Glycoprotein-Fucosylgalactoside Alpha-N-Acetylgalactosaminyltransferase2 3     Histo-Blood Group A2 Transferase2
Histo-Blood Group A Transferase2 3     Histo-Blood Group ABO System Transferase2
Histo-Blood Group B Transferase2 3     EC 2.4.1.373
NAGAT2 3     EC 2.4.1.403
A3GALNT2     A Transferase3
A3GALT12     B Transferase3
GTB2     

External Ids:    HGNC: 791   Entrez Gene: 282   Ensembl: ENSG000001751647   OMIM: 1103005   UniProtKB: P164423   
ORGUL members:         

Export aliases for ABO gene to outside databases

Previous GC identifers: GC09M127220 GC09M127687 GC09M129484 GC09M131407 GC09M133160 GC09M135120 GC09M105623


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for ABO Gene:
This gene encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an
individual determines the blood group. 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, Jul 2008)

GeneCards Summary for ABO Gene:
ABO (ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)) is a protein-coding gene. Diseases associated with ABO include blood group incompatibility, and exostosis. GO annotations related to this gene include glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity and fucosylgalactoside 3-alpha-galactosyltransferase activity.

UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442
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

Gene Wiki entry for ABO Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000009.12  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ABO gene promoter:
         Sp1   MyoD   IRF-7A   CUTL1   C/EBPalpha   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for ABO

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat ABO


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 9q34.2   Ensembl cytogenetic band:  9q34.2   HGNC cytogenetic band: 9q34.2

ABO Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
ABO gene location

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M136130:  view genomic region     (about GC identifiers)

Start:
136,125,788 bp from pter      End:
136,150,630 bp from pter
Size:
24,843 bases      Orientation:
minus strand

1 alternative location:
Chr9-,NW_003315925 81,269-101,308     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442 (See protein sequence)
Recommended Name: Histo-blood group ABO system transferase  
Size: 354 amino acids; 40934 Da
Cofactor: Binds 1 manganese ion per subunit
Selected PDB 3D structures from and Proteopedia for ABO (see all 100):
1LZ0 (3D)        1LZ7 (3D)        1LZI (3D)        1LZJ (3D)        1R7T (3D)        1R7U (3D)    
Secondary accessions: B0JDB9 O14758 Q14490 Q53I57 Q6ISD4 Q6KFZ2 Q70V27 Q99484 Q99485 Q9NY01
Q9UQ68 Q9UQ69

Explore the universe of human proteins at neXtProt for ABO: NX_P16442

Explore proteomics data for ABO at MOPED

Post-translational modifications: 

  • The soluble form derives from the membrane form by proteolytic processing1
  • Glycosylation2 at Asn113

  • See ABO Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_065202.2  

    ABO Human Recombinant Protein Products:

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    Novus Biologicals ABO Proteins
    Novus Biologicals ABO Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    ProSpec Recombinant Protein for ABO
    Browse Proteins at Cloud-Clone Corp.

    ABO Antibody Products:

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    ABO Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for ABO
    Browse Enzo Life Sciences for kits & assays
    Browse ELISAs at Cloud-Clone Corp.
    Browse CLIAs at Cloud-Clone Corp.


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    bloodgroup: Blood group antigens
    GLT6: Glycosyltransferase family 6 domain containing

    1 InterPro protein domain:
     IPR005076 Glyco_trans_6

    Graphical View of Domain Structure for InterPro Entry P16442

    ProtoNet protein and cluster: P16442

    1 Blocks protein domain: IPB005076 Glycosyl transferase

    UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442
    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
    Similarity: Belongs to the glycosyltransferase 6 family


    ABO for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: BGAT_HUMAN, P16442
    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
    Catalytic activity: UDP-N-acetyl-alpha-beta-D-galactosamine + glycoprotein-alpha-L-fucosyl-(1->2)-D-galactose =
    UDP + glycoprotein-N-acetyl-alpha-D-galactosaminyl-(1->3)-(alpha-L-fucosyl-(1->2))-beta-D-galactose
    Catalytic activity: UDP-alpha-D-galactose + alpha-L-fucosyl-(1->2)-D-galactosyl-R = UDP +
    alpha-D-galactosyl-(1->3)-(alpha-L-fucosyl-(1->2))-D-galactosyl-R

         Enzyme Numbers (IUBMB): EC 2.4.1.371 EC 2.4.1.401

         Gene Ontology (GO): 3 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004380glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity IEA--
    GO:0004381fucosylgalactoside 3-alpha-galactosyltransferase activity IEA--
    GO:0046872metal ion binding IEA--
         
    ABO for ontologies           About GeneDecksing


    Phenotypes:
         1 GenomeRNAi human phenotype for ABO:
     Proliferating cells 

         1 MGI phenotypic allele for Abo (no phenotypes)

    ABO for phenotypes           About GeneDecksing

    Animal Models:
       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for ABO
       inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for ABO

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for ABO
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for ABO

    miRNA
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    SwitchGear 3'UTR luciferase reporter plasmidABO 3' UTR sequence
    Inhib. RNA
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    Predesigned siRNA for gene silencing in human, mouse, rat ABO

    Gene Editing
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    Clone
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    OriGene clones in human, mouse for ABO (see all 6)
    OriGene ORF clones in mouse, rat for ABO
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector: ABO (NM_020469)
    Sino Biological Human cDNA Clone for ABO
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ABO
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ABO

    Cell Line
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABO


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    BGAT_HUMAN, P16442: 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: 

    CompartmentConfidence
    extracellular5
    golgi apparatus5
    plasma membrane2
    endoplasmic reticulum1
    lysosome1

    Gene Ontology (GO): 3 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region IEA--
    GO:0016021integral component of membrane IEA--
    GO:0032580Golgi cisterna membrane IEA--

    ABO for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for ABO About    
    See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.38
    2Glycosphingolipid biosynthesis - lacto and neolacto series
    Glycosphingolipid biosynthesis - lacto and neolacto series

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways




    2 Kegg Pathways  (Kegg details for ABO):
        Glycosphingolipid biosynthesis - lacto and neolacto series
    Metabolic pathways

    UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442
    Pathway: Protein modification; protein glycosylation


    ABO for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for ABO
    Interactions:

        GeneGlobe Interaction Network for ABO

    Gene Ontology (GO): 1 biological process term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006486protein glycosylation IEA--

    ABO for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for ABO (BGAT)

    5 HMDB Compounds for ABO    About this table
    CompoundSynonyms CAS #PubMed Ids
    Lactosaminebeta-D-galactopyranosyl-(1->4)-2-amino-2-deoxy-D-glucose (see all 8)13000-25-4--
    Manganesemanganese 7439-96-5--
    Uridine 5'-diphosphate5'-UDP (see all 9)58-98-0--
    Uridine diphosphate-N-acetylgalactosamineUDP-N-acetyl-D-galactosamine (see all 17)7277-98-7--
    Uridine diphosphategalactoseGDU (see all 39)2956-16-3--

    Selected DrugBank Compounds for ABO (see all 13)    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,4,5-Triol-- --target--17139284 17016423 10592235
    2-Hexyloxy-6-Hydroxymethyl-Tetrahydro-Pyran-3,5-Diol-- --target--17139284 17016423 10592235
    Uridine-5'-Diphosphate-- 58-98-0target--17139284 17016423
    Uridine-Diphosphate-N-Acetylgalactosamine-- --target--17139284 17016423
    4-AMINO-2-HEXYLOXY-6-HYDROXYMETHYL-TETRAHYDRO-PYRAN-3,5-DIOL-- --target--10592235
    4-AMINO-2-OCTYLOXY-6-HYDROXYMETHYL-TETRAHYDRO-PYRAN-3,5-DIOL-- --target--10592235
    GALACTOSE GREASE-- --target--10592235
    Uridine Diphosphate GalactoseGALACTOSE-URIDINE-5'-DIPHOSPHATE (see all 18)2956-16-3target--12972418
    octyl 3-amino-3-deoxy-2-O-(2,6-dideoxy-alpha-L-lyxo-hexopyranosyl)-beta-D-galactopyranoside-- --target--10592235
    octyl 3-deoxy-2-O-(6-deoxy-alpha-L-galactopyranosyl)-beta-D-xylo-hexopyranoside-- --target--10592235

    Selected Novoseek inferred chemical compound relationships for ABO gene (see all 12)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    udp-n-acetylgalactosamine 67.8 1 1289243 (1)
    udpglucose 62.2 9 17031966 (2), 20154292 (2), 18202596 (1), 12198488 (1)
    galalpha(1,3)gal 58.6 2 11895782 (1)
    galactose 54.4 3 16923820 (1), 12529355 (1)
    de-oxy 41.1 1 8252553 (1)
    monosaccharide 26.3 2 15475562 (1)
    methionine 6.19 1 18202596 (1)
    agarose 0 1 9633556 (1)
    alanine 0 4 8631849 (2), 18202596 (1)
    arginine 0 1 1903936 (1)



    ABO for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for ABO gene: 
    NM_020469.2  

    Unigene Cluster for ABO:

    ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
    Hs.654423  [show with all ESTs]
    Unigene Representative Sequence: AK124587
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000453660(processed_transcript) ENST00000538324(processed_transcript)
    miRNA
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      QuantiFast Probe-based Assays in human, mouse, rat ABO

    Additional mRNA sequence: 

    AF134412.1 AF134413.1 AF134414.1 AF134415.1 AF134416.1 AK095379.1 AK124587.1 AK302203.1 
    AY579471.1 AY727862.1 BC069595.1 BC069605.1 BC069814.1 BC111575.1 DQ139865.1 FR691751.1 
    FR691752.1 J05175.1 JN791441.1 JX519569.1 JX519570.1 U15197.1 

    5 DOTS entries:

    DT.211476  DT.428863  DT.102822581  DT.95202884  DT.121166283 

    Selected AceView cDNA sequences (see all 29):

    U15197 BX485027 BC069814 AI476688 AF134415 AF134416 J05175 NM_020469 
    AA431249 BC069605 AF134412 AA595771 AF134413 AW302156 BF448058 BP351212 
    BC069595 BP354524 AV761252 BP351450 BP352662 AA931083 AF134414 S44054 

    GeneLoc Exon Structure

    4 Alternative Splicing Database (ASD) splice patterns (SP) for ABO    About this scheme

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


    ECgene alternative splicing isoforms for ABO

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    ABO expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: TTCTCAGGCC
    ABO Expression
    About this image

    ABO Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ABO Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.654423
        Custom PCR Arrays for ABO
    Primer
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABO

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of chordates.

    Orthologs for ABO gene from Selected species (see all 6)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Abo1 , 5 ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase, more1, 5 75.61(n)1
    75.91(a)1
      2 (19.06 cM)5
    809081  NM_030718.41  NP_109643.31 
     268425035 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia BX710344.12   -- 74.06(n)    BX710344.1 


    ENSEMBL Gene Tree for ABO (if available)
    TreeFam Gene Tree for ABO (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ABO gene
    4 SIMAP similar genes for ABO using alignment to 242 protein entries:     BGAT_HUMAN (see all proteins):
    ABO-B    GBGT1    GLT6D1    A3GALT2

    ABO for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Polymorphic Variants from UniProtKB/Swiss-Prot
    BGAT_HUMAN, P16442: The sequence shown is that of the A transferase. The B form differs by a few residues substitutions.
    The O phenotype results from a single base frameshift in the N-terminal extremity of the gene, resulting in a
    severly truncated protein without catalytic activity


    Selected SNPs for ABO (see all 983)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs557223971,2
    Cpathogenic1136131418(-) TGCACC/G/TCCGGC 2 P A mis10--------
    rs81767471,2,,4
    C,F,Huntested1136131315(-) GGGGGG/CGTTCT 2 /A /G mis112Minor allele frequency- C:0.14NS NA EA WA EU 1224
    rs10538781,2,,4
    C,Funtested1136131651(-) CCAGCC/TGGCCG 2 P L mis1 ese312Minor allele frequency- T:0.17EA NS MN NA WA EU 2749
    rs81767561,2
    C--136130077(-) AGTGTACACACAGA
    CACATAGA
    /-
    CCACA
    1 -- ds50013Minor allele frequency- -:0.06NS CSA 88
    rs112440541,2
    C--136130225(+) ggtgtA/Gtgtct 1 -- ds50010--------
    rs2012210831,2
    C--136130229(+) TATGTC/GTGTGT 1 -- ds50010--------
    rs556975121,2
    C--136130241(+) TGTGTC/GTATGT 1 -- ds50010--------
    rs561291341,2
    C--136130247(+) TATGTC/TTGTGT 1 -- ds50010--------
    rs2004992761,2
    C--136130328(+) TGGTGC/TGTCTC 1 -- ds50010--------
    rs1173082901,2
    C,F--136130382(+) GTAACG/AGTGTG 1 -- ds50011Minor allele frequency- A:0.02NA 120

    HapMap Linkage Disequilibrium report for ABO (136125788 - 136150630 bp)

    Structural Variations
         Database of Genomic Variants (DGV) Selected variations for ABO (see all 28):    About this table    
    Variant IDTypeSubtypePubMed ID
    dgv1325e201CNV Deletion23290073
    esv2662639CNV Deletion23128226
    esv2659903CNV Deletion23128226
    dgv1326e201CNV Deletion23290073
    esv2739138CNV Deletion23290073
    nsv894066CNV Loss21882294
    nsv516103CNV Loss19592680
    dgv8326n71CNV Loss21882294
    dgv8327n71CNV Loss21882294
    dgv8325n71CNV Loss21882294

    Human Gene Mutation Database (HGMD): ABO
    Locus Specific Mutation Databases (LSDB): ABO

    Site Specific Mutation Identification with PCR Assays
    Search QIAGEN SeqTarget long-range PCR primers for resequencing ABO
    DNA2.0 Custom Variant and Variant Library Synthesis for ABO

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 110300    OMIM disorders: --

    Selected diseases for ABO (see all 52):    
    About MalaCards
    blood group incompatibility    exostosis    plasmodium falciparum malaria    nail-patella syndrome
    venous thromboembolism    atrophic gastritis    calcinosis    hiv/aids
    duodenal ulcer    cholera    von willebrand's disease    duodenitis
    congenital muscular dystrophy    thromboembolism    peptic ulcer    gastritis
    gigantism    smallpox    hematopoietic stem cell transplantation    venous thrombosis

    4 diseases from the University of Copenhagen DISEASES database for ABO:
    Von Willebrand's disease     Blood group incompatibility     Malaria     Peptic ulcer

    ABO for disorders           About GeneDecksing

    7 Novoseek inferred disease relationships for ABO gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    gastric cancer 31.2 10 10601288 (2), 9325321 (2), 15584989 (1), 11856466 (1) (see all 5)
    bladder tumors 27.9 1 9506524 (1)
    myeloid leukemia chronic 22.9 2 10072169 (2)
    cholera 0.658 1 8640757 (1)
    tumors 0 11 14750174 (3), 8640757 (2), 10972144 (1)
    carcinoma 0 1 14750174 (1)
    cancer 0 4 2114334 (1), 10972144 (1), 15939654 (1)

    Genetic Association Database (GAD): ABO
    Human Genome Epidemiology (HuGE) Navigator: ABO (120 documents)

    Export disorders for ABO gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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    PubMed articles for ABO gene, integrated from 10 sources (see all 295):
    (articles sorted by number of sources associating them with ABO)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Cloning and characterization of DNA complementary to human UDP- GalNAc: Fuc alpha 1-->2Gal alpha 1-->3GalNAc transferase (histo-blood group A transferase) mRNA. (PubMed id 2104828)1, 2, 9 Yamamoto F.... Hakomori S. (J. Biol. Chem. 1990)
    2. Structural effects of naturally occurring human blood group B galactosyltransferase mutations adjacent to the DXD motif. (PubMed id 17259183)1, 2, 9 Persson M.... Olsson M.L. (J. Biol. Chem. 2007)
    3. A single point mutation reverses the donor specificity of human blood group B-synthesizing galactosyltransferase. (PubMed id 12529355)1, 2, 9 Marcus S.L.... Palcic M.M. (J. Biol. Chem. 2003)
    4. The influence of an intramolecular hydrogen bond in differential recognition of inhibitory acceptor analogs by human ABO(H) blood group A and B glycosyltransferases. (PubMed id 12972418)2, 7, 9 Nguyen H.P.... Evans S.V. (J. Biol. Chem. 2003)
    5. Sugar-nucleotide donor specificity of histo-blood group A and B transferases is based on amino acid substitutions. (PubMed id 2121736)1, 2, 9 Yamamoto F. and Hakomori S. (J. Biol. Chem. 1990)
    6. The structural basis for specificity in human ABO(H) blood group biosynthesis. (PubMed id 12198488)1, 2, 9 Patenaude S.I.... Evans S.V. (Nat. Struct. Biol. 2002)
    7. Molecular genetic basis of the histo-blood group ABO system. (PubMed id 2333095)1, 2, 9 Yamamoto F.... Hakomori S. (Nature 1990)
    8. A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation. (PubMed id 22291609)1, 4 Naitza S....Cucca F. (PLoS Genet. 2012)
    9. A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population. (PubMed id 22387998)1, 4 Tanikawa C....Matsuda K. (Nat. Genet. 2012)
    10. Genetic predictors of fibrin D-dimer levels in healthy adults. (PubMed id 21502573)1, 4 Smith N.L....Hayward C. (Circulation 2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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    Entrez Gene: 28 HGNC: 79 AceView: ABO Ensembl:ENSG00000175164 euGenes: HUgn28
    ECgene: ABO Kegg: 28 H-InvDB: ABO

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for ABO Pharmacogenomics, SNPs, Pathways
    GGDBhttp://jcggdb.jp/rcmg/ggdb/Homolog?cat=symbol&symbol=ABO
    SeattleSNPshttp://pga.gs.washington.edu/data/abo/
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_450
    Functional Glycomics Gateway - GTasehttp://www.functionalglycomics.org/glycomics/molecule/jsp/glycoEnzyme/viewGlycoEnzyme.jsp?gbpId=gt_hum_502

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
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    Patent Information for ABO gene:
    Search GeneIP for patents involving ABO

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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