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ALDOB Gene

protein-coding   GIFtS: 71
GCID: GC09M104182

Aldolase B, Fructose-Bisphosphate

  See ALDOB-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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Aliases
Aldolase B, Fructose-Bisphosphate1 2     ALDO22
Liver-Type Aldolase2 3     Aldolase 22
ALDB2 3     Aldolase B, Fructose-Bisphosphatase2
EC 4.1.2.133 8     Fructose-Bisphosphate Aldolase B2

External Ids:    HGNC: 4171   Entrez Gene: 2292   Ensembl: ENSG000001368727   OMIM: 6127245   UniProtKB: P050623   

Export aliases for ALDOB gene to outside databases

Previous GC identifers: GC09M094983 GC09M095927 GC09M097641 GC09M099563 GC09M101263 GC09M103222 GC09M073782


(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 ALDOB Gene:
Fructose-1,6-bisphosphate aldolase (EC 4.1.2.13) is a tetrameric glycolytic enzyme that catalyzes the reversible
conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone phosphate. Vertebrates
have 3 aldolase isozymes which are distinguished by their electrophoretic and catalytic properties. Differences
indicate that aldolases A, B, and C are distinct proteins, the products of a family of related 'housekeeping'
genes exhibiting developmentally regulated expression of the different isozymes. The developing embryo produces
aldolase A, which is produced in even greater amounts in adult muscle where it can be as much as 5% of total
cellular protein. In adult liver, kidney and intestine, aldolase A expression is repressed and aldolase B is
produced. In brain and other nervous tissue, aldolase A and C are expressed about equally. There is a high degree
of homology between aldolase A and C. Defects in ALDOB cause hereditary fructose intolerance. (provided by
RefSeq, Dec 2008)

GeneCards Summary for ALDOB Gene:
ALDOB (aldolase B, fructose-bisphosphate) is a protein-coding gene. Diseases associated with ALDOB include eumycotic mycetoma, and mycetoma. GO annotations related to this gene include ATPase binding and identical protein binding. An important paralog of this gene is ALDOA.

Gene Wiki entry for ALDOB (Aldolase B) 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 at NCBI GenBank:
NC_000009.11  NC_018920.2  NT_008470.20  
Regulatory elements:
   Regulatory transcription factor binding sites in the ALDOB gene promoter:
         AML1a   STAT5A   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidALDOB promoter sequence
   Search Chromatin IP Primers for ALDOB

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


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

Entrez Gene cytogenetic band: 9q21.3-q22.2   Ensembl cytogenetic band:  9q31.1   HGNC cytogenetic band: 9q21.3-q22.2

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

GeneLoc information about chromosome 9         GeneLoc Exon Structure

GeneLoc location for GC09M104182:  view genomic region     (about GC identifiers)

Start:
104,182,842 bp from pter      End:
104,198,105 bp from pter
Size:
15,264 bases      Orientation:
minus strand

(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, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062 (See protein sequence)
Recommended Name: Fructose-bisphosphate aldolase B  
Size: 364 amino acids; 39473 Da
Subunit: Homotetramer. Interacts with BBS1, BBS2, BBS4 and BBS7
Miscellaneous: In vertebrates, 3 forms of this ubiquitous glycolytic enzyme are found, aldolase A in muscle,
aldolase B in liver and aldolase C in brain
3 PDB 3D structures from and Proteopedia for ALDOB:
1QO5 (3D)        1XDL (3D)        1XDM (3D)    
Secondary accessions: Q13741 Q13742 Q5T7D6

Explore the universe of human proteins at neXtProt for ALDOB: NX_P05062

Explore proteomics data for ALDOB at MOPED

Post-translational modifications: 

  • Ubiquitination2 at Lys208
  • Modification sites at PhosphoSitePlus
  • Selected DME Specific Peptides for ALDOB (P05062) (see all 24)
     GIVVGIK  PDGDHDL  LARYASI  ATLNLNA 


    See ALDOB Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_000026.2  
    ENSEMBL proteins: 
     ENSP00000363988  
    Reactome Protein details: P05062

    ALDOB Human Recombinant Protein Products:

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    antibodies-online proteins for ALDOB (14 products) 

     
    antibodies-online peptides for ALDOB

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    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR013785 Aldolase_TIM
     IPR000741 Aldolase_I

    Graphical View of Domain Structure for InterPro Entry P05062

    ProtoNet protein and cluster: P05062

    1 Blocks protein domain: IPB000741 Fructose-bisphosphate aldolase

    UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062
    Similarity: Belongs to the class I fructose-bisphosphate aldolase family


    Find genes that share domains with ALDOB           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, 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, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: ALDOB_HUMAN, P05062
    Catalytic activity: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate
    Biophysicochemical properties: Kinetic parameters: KM=1.6 uM for fructose 1,6-bisphosphate; KM=2.3 mM for fructose
    1-phosphate;

         Genatlas biochemistry entry for ALDOB:
    aldolase B,fructose-bisphosphate,homotetramer,fructose metabolism,induced after feeding a carbohydrate diet,energy
    pathway,same affinity for F-1-P and F-1,6-P

         Enzyme Number (IUBMB): EC 4.1.2.131 2

         Gene Ontology (GO): Selected molecular function terms (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004332fructose-bisphosphate aldolase activity IDA10625657
    GO:0005515protein binding IPI18000879
    GO:0008092cytoskeletal protein binding IDA9244396
    GO:0042802identical protein binding IPI10625657
    GO:0051117ATPase binding IDA17576770
         
    Find genes that share ontologies with ALDOB           About GenesLikeMe


    Phenotypes:
         3 GenomeRNAi human phenotypes for ALDOB:
     Decreased G3BP1 protein expres  Decreased melanin production  Decreased viability of wild-ty 

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for ALDOB

    miRNA
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    miRTarBase miRNAs that target ALDOB:
    hsa-mir-378a-3p (MIRT043866), hsa-mir-124-3p (MIRT022656)

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    hsa-miR-29a* hsa-miR-2278 hsa-miR-32* hsa-miR-1301 hsa-miR-551b*
    SwitchGear 3'UTR luciferase reporter plasmidALDOB 3' UTR sequence
    Inhib. RNA
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    (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
    ALDOB_HUMAN, P05062: Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytoskeleton4
    cytosol4
    nucleus2
    chloroplast1
    lysosome1
    mitochondrion1
    peroxisome1
    vacuole1

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005815microtubule organizing center IDA18000879
    GO:0005829cytosol TAS--
    GO:0034451centriolar satellite IDA18000879

    Find genes that share ontologies with ALDOB           About GenesLikeMe


    (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 ALDOB About   (see all 10)  
    See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis short map
    Glycolysis and gluconeogenesis short map 0.60
    Glycolysis0.40
    Glycolysis and Gluconeogenesis0.60
    gluconeogenesis0.39
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.00
    2Fructose and mannose metabolism
    Polyol pathway0.00
    Fructose catabolism0.00
    Fructose and mannose metabolism
    3Metabolism
    Metabolism0.38
    Metabolic pathways0.38
    4Glucose metabolism
    Glucose metabolism0.44
    Gluconeogenesis0.44
    5Carbon metabolism
    Carbon metabolism0.38
    Biosynthesis of amino acids0.38


    Find genes that share SuperPaths with ALDOB           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 GeneGo (Thomson Reuters) Pathway for ALDOB
        Glycolysis and gluconeogenesis (short map)

    Selected BioSystems Pathways for ALDOB (see all 7)
        Polyol pathway
    Glycolysis and Gluconeogenesis
    sucrose degradation V (mammalian)
    glycolysis
    gluconeogenesis


    3 Reactome Pathways for ALDOB
        Gluconeogenesis
    Fructose catabolism
    Glycolysis


    Selected Kegg Pathways  (Kegg details for ALDOB) (see all 6):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062
    Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from
    D-glucose: step 4/4

        Pathway & Disease-focused RT2 Profiler PCR Array including ALDOB: 

              Glucose Metabolism in human mouse rat

    Interactions:

        Search GeneGlobe Interaction Network for ALDOB

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    Selected Interacting proteins for ALDOB (P050621, 3 ENSP000003639884) via UniProtKB, MINT, STRING, and/or I2D (see all 77)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    BBS2Q9BXC91, 3, ENSP000002451574EBI-1045507,EBI-748297 I2D: score=1 STRING: ENSP00000245157
    BBS1Q8NFJ91, 3EBI-1045507,EBI-1805484 I2D: score=1 
    BBS4Q96RK41, 3, ENSP000002680574EBI-1045507,EBI-1805814 I2D: score=1 STRING: ENSP00000268057
    BBS7Q8IWZ61, 3, ENSP000002644994EBI-1045507,EBI-1806001 I2D: score=1 STRING: ENSP00000264499
    ATP6V1E1P365433, ENSP000002534134I2D: score=2 STRING: ENSP00000253413
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006000fructose metabolic process IMP3383242
    GO:0006001fructose catabolic process TAS--
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--

    Find genes that share ontologies with ALDOB           About GenesLikeMe



    (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 ALDOB

    6 HMDB Compounds for ALDOB    About this table
    CompoundSynonyms CAS #PubMed Ids
    D-Erythrose 4-phosphateD-Erythrose 4-phosphate (see all 11)585-18-2--
    D-Glyceraldehyde 3-phosphate2-hydroxy-3-(phosphonooxy)-Propanal (see all 11)142-10-9--
    Dihydroxyacetone phosphate1,3-Dihydroxy-2-propanone phosphate (see all 17)57-04-5--
    Fructose 1,6-bisphosphateD-Fructose 1,6-biphosphate (see all 16)488-69-7--
    Fructose 1-phosphateD-fructose-1-P (see all 7)15978-08-2--
    ZincZinc (see all 2)7440-66-6--

    3 DrugBank Compounds for ALDOB    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1,3-Dihydroxyacetonephosphate-- --target--17139284 17016423 10592235
    1,6-Fructose Diphosphate (Linear Form)-- --target--17139284 17016423 10592235
    3-Phosphoglycerol-- --target--17139284 17016423 10592235

    Selected Novoseek inferred chemical compound relationships for ALDOB gene (see all 14)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose 1-phosphate 93.1 7 2371280 (1), 2211642 (1), 1928090 (1), 7832803 (1) (see all 7)
    fructose-1,6-bisphosphate 85.2 6 2211642 (1), 7832803 (1), 11257525 (1), 1631039 (1) (see all 5)
    fructose 84.8 48 10970798 (2), 12417303 (2), 1856829 (2), 1772121 (2) (see all 36)
    phosphoenolpyruvate 58.5 5 8838317 (1), 15311963 (1), 19660180 (1), 7565696 (1)
    mannitol 33.2 1 2207353 (1)
    alpha-ketoglutarate 25.9 2 10944108 (1), 10967120 (1)
    glyceraldehyde 3-phosphate 17.4 1 16097891 (1)
    sucrose 6.13 2 2207353 (1), 7816629 (1)
    atp 3.5 1 16097891 (1)
    glucose 1.23 4 2341157 (1), 10944108 (1), 10967120 (1)



    Find genes that share compounds with ALDOB           About GenesLikeMe



    (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, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for ALDOB gene: 
    NM_000035.3  

    Unigene Cluster for ALDOB:

    Aldolase B, fructose-bisphosphate
    Hs.530274  [show with all ESTs]
    Unigene Representative Sequence: AK128504
    2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000374855(uc004bbk.2) ENST00000468981
    miRNA
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    hsa-miR-29a* hsa-miR-2278 hsa-miR-32* hsa-miR-1301 hsa-miR-551b*
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    Additional mRNA sequence: 

    AK026411.1 AK128504.1 AK290795.1 BC005314.1 BC029399.1 X00270.1 X01098.1 X02747.1 

    19 DOTS entries:

    DT.85101542  DT.92024710  DT.91778960  DT.100828753  DT.75154237  DT.91778889  DT.100029196  DT.100828761 
    DT.100828759  DT.404038  DT.95175038  DT.91778917  DT.95175048  DT.100828751  DT.95175043  DT.121150360 
    DT.95175040  DT.95175041  DT.40133653 

    Selected AceView cDNA sequences (see all 295):

    NM_000035 T73823 CB163916 AA377181 AA377353 AI580305 CA866780 BQ270953 
    BX406719 CR600199 AA029580 BM352265 BM352644 BQ632154 H72200 CB164792 
    AA377092 CR605801 CR604271 R83303 X02747 CR606411 CA866511 BX464276 

    GeneLoc Exon Structure


    (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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    ALDOB expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: --
    ALDOB Expression
    About this image


    ALDOB expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 6) fully expand
     
     Liver (Hepatobiliary System)    fully expand to see all 2 entries
             Hepatocytes Liver Lobule
             Liver Lobule
     
     Kidney (Urinary System)    fully expand to see all 2 entries
             Presumptive Podocytes Podocyte Layer
             Metanephros
     
     Skeletal Muscle (Muscoskeletal System)    fully expand to see all 2 entries
             Myoblasts Mandibular Arch Muscles
     
     Epithelial Cells
             Presumptive Podocytes Podocyte Layer
     
     Lung (Respiratory System)
    ALDOB Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    ALDOB Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.530274
        Pathway & Disease-focused RT2 Profiler PCR Array including ALDOB: 
              Glucose Metabolism in human mouse rat

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDOB

    (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 eukaryotes.

    Orthologs for ALDOB gene from Selected species (see all 19)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldob1 , 5 aldolase B, fructose-bisphosphate1, 5 90.75(n)1
    95.88(a)1
      4 (26.57 cM)5
    2301631  NM_144903.21  NP_659152.11 
     495359955 
    chicken
    (Gallus gallus)
    Aves ALDOB1 aldolase B, fructose-bisphosphate 75.55(n)
    80.77(a)
      427308  NM_001007977.2  NP_001007978.1 
    lizard
    (Anolis carolinensis)
    Reptilia ALDOB6
    aldolase B, fructose-bisphosphate
    82(a)
    1 ↔ 1
    2(58780455-58805593)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia aldob1 aldolase B, fructose-bisphosphate 68.32(n)
    74.18(a)
      394736  NM_203800.1  NP_989131.1 
    zebrafish
    (Danio rerio)
    Actinopterygii aldob2 aldolase b, fructose-bisphosphate 75.82(n)   321664  AY394965.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ald3 glycolysis fructose-bisphosphate
    aldolase
    64(a)
    (best of 2)
      3 97A6   --
    worm
    (Caenorhabditis elegans)
    Secernentea F01F1.12a3 Fructose-biphosphate aldolase 59(a)
    (best of 3)
        --
    soybean
    (Glycine max)
    eudicotyledons BM177496.12   -- 77.18(n)    BM177496.1 
    rice
    (Oryza sativa)
    Liliopsida AK104719.12   -- 74.52(n)    AK104719.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for ALDOB gene
    ALDOA2  ALDOC2  
    2 SIMAP similar genes for ALDOB using alignment to 2 protein entries:     ALDOB_HUMAN (see all proteins):
    ALDOC    ALDOA

    Find genes that share paralogs with ALDOB           About GenesLikeMe



    (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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    Selected SNPs for ALDOB (see all 464)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 9 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1450782681,2,,4
    C,FHereditary fructose intolerance (HFI)4 --104200603(+) GGGCCC/TGTCCA 2 Q R mis12Minor allele frequency- T:0.00NA EU 5875
    rs769172431,2,,4
    C,FHereditary fructose intolerance (HFI)4 pathogenic1104203170(+) TGCTGG/TCGTAG 2 D A mis12Minor allele frequency- T:0.00NA EU 5873
    rs18005461,2,,4
    C,FHereditary fructose intolerance (HFI)4 pathogenic1104203246(-) GGCGTG/CCTGTG 2 /P /A mis14Minor allele frequency- C:0.00NA EU 5879
    VAR_0005564
    Hereditary fructose intolerance (HFI)4--see VAR_0005562 R W mis40--------
    VAR_0582124
    Hereditary fructose intolerance (HFI)4--see VAR_0582122 L P mis40--------
    VAR_0208224
    Hereditary fructose intolerance (HFI)4--see VAR_0208222 I T mis40--------
    VAR_0005574
    Hereditary fructose intolerance (HFI)4--see VAR_0005572 N K mis40--------
    VAR_0208244
    Hereditary fructose intolerance (HFI)4--see VAR_0208242 P R mis40--------
    VAR_0582114
    Hereditary fructose intolerance (HFI)4--see VAR_0582112 C R mis40--------
    VAR_0005514
    Hereditary fructose intolerance (HFI)4--see VAR_0005512 C R mis40--------

    HapMap Linkage Disequilibrium report for ALDOB (104182842 - 104198105 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for ALDOB:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv523287CNV Loss19592680
    nsv893626CNV Loss21882294

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

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

    (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: 612724   
    OMIM disorders: 229600  
    UniProtKB/Swiss-Prot: ALDOB_HUMAN, P05062
  • Hereditary fructose intolerance (HFI) [MIM:229600]: Autosomal recessive disease that results in an
    inability to metabolize fructose and related sugars. Complete exclusion of fructose results in dramatic recovery;
    however, if not treated properly, HFI subjects suffer episodes of hypoglycemia, general ill condition, and risk
    of death the remainder of life. Note=The disease is caused by mutations affecting the gene represented in this
    entry

  • 6 diseases for ALDOB:    
    About MalaCards
    eumycotic mycetoma    mycetoma    suppression amblyopia    hereditary fructose intolerance syndrome
    amblyopia    hepatocellular carcinoma

    1 disease from the University of Copenhagen DISEASES database for ALDOB:
    Eumycotic mycetoma

    Find genes that share disorders with ALDOB           About GenesLikeMe

    8 Novoseek inferred disease relationships for ALDOB gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    hereditary fructose intolerance 98.2 37 12417303 (2), 1856829 (2), 2349937 (1), 8438046 (1) (see all 33)
    hypoglycemia 35.1 2 2207353 (1), 12638940 (1)
    hepatocellular carcinoma 21.5 4 14966907 (2), 18357395 (1)
    genetic disorder 17.7 1 11679716 (1)
    tumor liver 14.5 1 14966907 (1)
    hepatitis 0 1 16115720 (1)
    tumors 0 3 18357395 (2), 1856954 (1)
    carcinoma renal cell 0 1 2183586 (1)

    Genatlas disease: ALDOB
    fructose intolerance,hereditary,characterized by vomiting,nausea,sweating associated with hypoglycemia and
    metabolic acidosis after exposure ef dietary fructose after weaning,leading to chronic toxicity and cirrhosis of
    liver in case of persistent intake

    Genetic Association Database (GAD): ALDOB
    Human Genome Epidemiology (HuGE) Navigator: ALDOB (4 documents)

    Export disorders for ALDOB 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 ALDOB gene, integrated from 10 sources (see all 140):
    (articles sorted by number of sources associating them with ALDOB)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. The spectrum of aldolase B (ALDOB) mutations and the prevalence of hereditary fructose intolerance in Central Europe. (PubMed id 15880727)1, 2, 9 Santer R.... Schneppenheim R. (Hum. Mutat. 2005)
    2. Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population. (PubMed id 20033295)1, 4, 9 Coffee E.M....Tolan D.R. (J. Inherit. Metab. Dis. 2010)
    3. Functional and molecular modelling studies of two hereditary fructose intolerance-causing mutations at arginine 303 in human liver aldolase. (PubMed id 10970798)1, 2, 9 Santamaria R.... Salvatore F. (Biochem. J. 2000)
    4. Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population. (PubMed id 16406649)1, 4, 9 Gruchota J....PA8oski R. (Mol. Genet. Metab. 2006)
    5. Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene. (PubMed id 15532022)1, 2, 9 Esposito G.... Salvatore F. (Hum. Mutat. 2004)
    6. The structure of human liver fructose-1,6-bisphosphate aldolase. (PubMed id 11679716)1, 2, 9 Dalby A.R.... Littlechild J.A. (Acta Crystallogr. D 2001)
    7. A partially active mutant aldolase B from a patient with hereditary fructose intolerance. (PubMed id 8299883)1, 2, 9 Brooks C.C. and Tolan D.R. (FASEB J. 1994)
    8. A new aldolase B variant, N334K, is a common cause of hereditary fructose intolerance in Yugoslavia. (PubMed id 2336380)1, 2, 9 Cross N.C.P.... Cox T.M. (Nucleic Acids Res. 1990)
    9. Molecular analysis of aldolase B genes in hereditary fructose intolerance. (PubMed id 1967768)1, 2, 9 Cross N.C.P.... Cox T.M. (Lancet 1990)
    10. Screening for hereditary fructose intolerance mutations by reverse dot-blot. (PubMed id 10024431)1, 2, 9 Lau J. and Tolan D.R. (Mol. Cell. Probes 1999)

    (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: 229 HGNC: 417 AceView: ALDOB Ensembl:ENSG00000136872 euGenes: HUgn229
    ECgene: ALDOB Kegg: 229 H-InvDB: ALDOB

    (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)
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    NameDescription
    PharmGKB entry for ALDOB Pharmacogenomics, SNPs, Pathways
    ATLAS Chromosomes in Cancer entry for ALDOB Genetics and Cytogenetics in Oncology and Haematology
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=ALDOB[genesymbol]

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

    Licensable Technologies for ALDOB gene:
    Weizmann Institute:Diagnosis and Treatment of Alzheimer Directed Against Aldolase
    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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