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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;...

 Explore 50 diseases affiliated with
ABO via our new
 Human Malady Compendium 
Biological research products
for ABO
    

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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
A3GALNT1 2     ABO Glycosyltransferase2
A3GALT11 2     ABO Weak Transfer2
Fucosylglycoprotein 3-Alpha-Galactosyltransferase2 3     B(A) Alpha-1,3-Galactosyltransferase2
Fucosylglycoprotein Alpha-N-Acetylgalactosaminyltransferase2 3     Histo-Blood Group A2 Transferase2
Glycoprotein-Fucosylgalactoside Alpha-Galactosyltransferase2 3     Histo-Blood Group ABO System Transferase2
Glycoprotein-Fucosylgalactoside Alpha-N-Acetylgalactosaminyltransferase2 3     EC 2.4.1.373
Histo-Blood Group A Transferase2 3     EC 2.4.1.403
Histo-Blood Group B Transferase2 3     A Transferase3
NAGAT2 3     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:
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)

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


(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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000009.11  NC_018920.1  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:
136,130,563 bp from pter      End:
136,150,630 bp from pter
Size:
20,068 bases      Orientation:
minus strand

1 alternative location:
Chr9-,PATCHES 136,125,503-136,145,542     

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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 Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
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:

  • The soluble form derives from the membrane form by proteolytic processing1
  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_P16442

  • ABO Protein expression data from MOPED and PaxDb: --
    REFSEQ proteins: NP_065202.2  
    Human Recombinant Protein Products: 
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    Novus Biologicals ABO Proteins
    Novus Biologicals ABO Lysate
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ABO
    Browse Proteins at Uscn

    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 and CLIAs at Uscn


    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section

    ABO for domains           About GeneDecksing

    1 InterPro domain/family:
     IPR005076 Glyco_trans_6

    Graphical View of Domain Structure for InterPro Entry P16442

    ProtoNet protein and cluster: P16442

    1 Blocks protein family: 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


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    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, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section

    Function Summary:

         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
    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

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    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


    1 GenomeRNAi human phenotype for ABO:
     Proliferating cells 


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glycosphingolipid biosynthesis - lacto and neolacto series
    Glycosphingolipid biosynthesis - lacto and neolacto series1.00
    2Metabolism
    Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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, 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

    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 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 235 Homo sapiens; Mar 10 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,
    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, 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(lincRNA)(uc004cda.1 uc010naf.1 uc011mcz.1 uc010nag.1)
    ENST00000538324(lincRNA)

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

    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
    CGAP TAG: TTCTCAGGCC

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)

    About this image
    Genevestigator expression for ABO

    SOURCE GeneReport for Unigene cluster: Hs.654423
        SABiosciences Custom PCR Arrays for ABO
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    In Situ
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    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
      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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


    10/950 NCBI SNPs in ABO are shown (see all 950    About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs81767471,2
    C,F,H,non-pathogenic136131315(-) GGGGGG/CGTTCT 2 /A /G mis112Minor allele frequency- C:0.14NS NA EA WA EU 1224
    rs10538781,2
    C,F,non-pathogenic136131651(-) CCAGCC/TGGCCG 2 P L mis1 ese312Minor allele frequency- T:0.17EA NS MN NA WA EU 2749
    rs557223971,2
    Cpathogenic136131418(-) TGCACC/G/TCCGGC 3 P A S mis10--------
    rs81767561,2
    C--136130077(-) AGTGTACACACAGA
    CACATAGA
    /-
    CCACA
    1 -- ds50013Minor allele frequency- -:0.06NS CSA 88
    rs112440541,2
    C,--136130225(+) GGTGTA/GTGTCT 1 -- ds50010--------
    rs556975121,2
    C,--136130241(+) TGTGTC/GTATGT 1 -- ds50010--------
    rs561291341,2
    C,--136130247(+) TATGTC/TTGTGT 1 -- ds50010--------
    rs1443905461,2
    --136130294(+) GTGAT-/TGTG  
      TGTGTG
    TGTGT
    1 -- ds50010--------
    rs1173082901,2
    C,F,--136130382(+) GTAACG/AGTGTG 1 -- ds50011Minor allele frequency- A:0.02NA 120
    rs1122346721,2
    C,F--136130464(+) GTGGCG/AGGGAG 1 -- ds50012Minor allele frequency- A:0.50WA NA 4

    HapMap Linkage Disequilibrium report for ABO (136130563 - 136150630 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 8 variations for ABO
         7 CNVs: 29809 38736 65542 53331 10311 52737 29808
         1 Indel: 13207
    Human Gene Mutation Database (HGMD): ABO

    Locus Specific Mutation Databases (LSDB): ABO

    SABiosciences Cancer Mutation PCR Assays
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    (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.)
    About This Section

    ABO for disorders           About GeneDecksing

    OMIM gene information: 110300    OMIM disorders: --

    20/50 diseases for ABO (see all 50):    About MalaCards
    blood group incompatibility    nail-patella syndrome    plasmodium falciparum malaria    pre-eclampsia
    atrophic gastritis    congenital muscular dystrophy    muscular dystrophy    cystic fibrosis lung disease
    oral squamous cell carcinoma    peptic ulcer    fatty liver disease    cystic fibrosis
    squamous cell carcinoma    myeloid leukemia    exostosis    chronic myeloid leukemia
    smallpox    calcinosis    bleeding disorder    myocardial infarction

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

    7 Novoseek 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 273):
    (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. Weak blood group B phenotypes may be caused by variations in the CCAAT-binding factor/NF-Y enhancer region of the ABO gene. (PubMed id 17764507)1, 2 Seltsam A....Blasczyk R. (2007)
    9. Relationship between ABO and Secretor genotype with plasma levels of factor VIII and von Willebrand factor in thrombosis patients and control individuals. (PubMed id 15606555)1, 4 Schleef M....Spannagl M. (2005)
    10. The ABO blood group genotype and factor VIII levels as independent risk factors for venous thromboembolism. (PubMed id 15735796)1, 4 Tirado I....Fontcuberta J. (2005)

    (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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