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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

ABO Gene

protein-coding   GIFtS: 61
GCID: GC09M136130

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

Microbiology & Infectious Diseases Congress
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(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

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   

Export aliases for ABO gene to outside databases

Previous GC identifers: GC09M127220 GC09M127687 GC09M129484 GC09M131407 GC09M133160 GC09M135120 GC09M105623


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

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, and among its related super-pathways are Metabolism. 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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.2  NT_035014.4  
Regulatory elements:
   SABiosciences 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 SABiosciences Chromatin IP Primers for ABO

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB 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., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

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
Subcellular location: 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
6/83 PDB 3D structures from and Proteopedia for ABO (see all 83):
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

Post-translational modifications:

  • UniProtKB: The soluble form derives from the membrane form by proteolytic processing
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P16442

  • ABO Protein expression data from MOPED1, PaxDb2 and MAXQB3 : --
    REFSEQ proteins: NP_065202.2  
    Human Recombinant Protein Products for ABO: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for ABO (Blood Group B Transferase/GTB)
    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Protein for ABO
    OriGene Protein Over-expression Lysate for ABO
    OriGene MassSpec for ABO 
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    GenScript Custom Purified and Recombinant Proteins Services for ABO
    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. 

    Gene Ontology (GO): 3 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region NAS--
    GO:0030173integral to Golgi membrane NAS--
    GO:0032580Golgi cisterna membrane IEA--

    ABO for ontologies           About GeneDecksing



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    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)
    About This Section
    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,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    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 (GO ID links to tree view):    About this table

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


    Phenotypes:
         1 GenomeRNAi human phenotype for ABO:
     Proliferating cells 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ABO 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions 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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    Clone
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    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
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ABO


    (Pathways according to EMD Millipore, 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 SABiosciences, 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 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for ABO About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Metabolism
    Metabolic pathways0.40
    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

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ABO

    Gene Ontology (GO): 1 biological process term (GO ID links to tree view):    About this table

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

    ABO for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    ABO for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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--

    10/13 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

    10/12 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)

    Search CenterWatch for drugs/clinical trials and news about ABO / BGAT

    (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,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    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(uc004cda.1 uc010naf.1 uc011mcz.1 uc010nag.1)
    ENST00000538324
    Congresses - knowledge worth sharing:  
    European Congress of Clinical Microbiology and Infectious Diseases (ECCMID) 10 - 13 May 2014

    miRNA
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    Inhib. RNA
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    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 

    24/29 AceView cDNA sequences (see all 29):

    U15197 BX485027 J05175 AW302156 BC069605 AF134412 BC069814 AF134416 
    NM_020469 AF134413 AA431249 AI476688 AF134415 AA595771 AV761252 BP351212 
    BP352662 BP354524 AA931083 BP351450 AF134414 BC069595 BF448058 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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    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


    Genevestigator expression for ABO

    SOURCE GeneReport for Unigene cluster: Hs.654423
        SABiosciences Custom PCR Arrays for ABO
    Primer
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ABO
    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)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for ABO gene from 2/6 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 75.56(n)1
    75.15(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)
    About This Section
    Paralogs for ABO gene
    3 SIMAP similar genes for ABO using alignment to 216 protein entries:     BGAT_HUMAN (see all proteins):
    ABO-B    GBGT1    GLT6D1

    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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: BGAT_HUMAN, P16442
    Polymorphism: 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


    10/983 SNPs in ABO are shown (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
    VAR_0367414
    ----see VAR_0367412 E D mis40--------
    VAR_0367444
    ----see VAR_0367442 K M mis40--------
    VAR_0191504
    ----see VAR_0191502 P S mis40--------
    VAR_0034144
    ----see VAR_0034142 R W mis40--------
    VAR_0367424
    ----see VAR_0367422 M R mis40--------
    VAR_0367454
    ----see VAR_0367452 R G mis40--------
    VAR_0367434
    ----see VAR_0367432 D N mis40--------

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

    Structural Variations
         Database of Genomic Variants (DGV) 10/28 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
    SABiosciences Cancer Mutation 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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 110300    OMIM disorders: --

    20/49 diseases for ABO (see all 49):    About MalaCards
    blood group incompatibility    exostosis    hiv/aids    plasmodium falciparum malaria
    nail-patella syndrome    smallpox    calcinosis    atrophic gastritis
    von willebrand's disease    cholera    venous thromboembolism    congenital muscular dystrophy
    peptic ulcer    gastritis    thromboembolism    gigantism
    duodenal ulcer    acne    hematopoietic stem cell transplantation    malaria

    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)
    About This Section

    PubMed articles for ABO gene, integrated from 9 sources (see all 289):
    (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. (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. (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. (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. (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. (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. (2002)
    7. Molecular genetic basis of the histo-blood group ABO system. (PubMed id 2333095)1, 2, 9 Yamamoto F.... Hakomori S. (1990)
    8. A genome-wide association scan on the levels of marker s of inflammation in Sardinians reveals associations that underpin its complex r egulation. (PubMed id 22291609)1, 4 Naitza S....Cucca F. (2012)
    9. A genome-wide association study identifies two suscept ibility loci for duodenal ulcer in the Japanese population. (PubMed id 22387998)1, 4 Tanikawa C....Matsuda K. (2012)
    10. Genetic predictors of fibrin D-dimer levels in health y adults. (PubMed id 21502573)1, 4 Smith N.L....Hayward C. (2011)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     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)
    About This Section
    Entrez Gene: 28 HGNC: 79 AceView: ABO Ensembl:ENSG00000175164 euGenes: HUgn28
    ECgene: ABO Kegg: 28 H-InvDB: ABO

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for ABO Pharmacogenomics, SNPs, Pathways
    GGDBhttp://riodb.ibase.aist.go.jp/rcmg/ggdb/
    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.)
    About This Section
    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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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 3 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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