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

ALDOA Gene

protein-coding   GIFtS: 74
GCID: GC16P030064

Aldolase A, Fructose-Bisphosphate

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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
Aldolase A, Fructose-Bisphosphate1 2     EC 4.1.2.133 8
Lung Cancer Antigen NY-LU-12 3     GSD122 5
Muscle-Type Aldolase2 3     Fructose-1,6-Bisphosphate Triosephosphate-Lyase2
ALDA2 3     Fructose-Bisphosphate Aldolase A2

External Ids:    HGNC: 4141   Entrez Gene: 2262   Ensembl: ENSG000001499257   OMIM: 1038505   UniProtKB: P040753   

Export aliases for ALDOA gene to outside databases

Previous GC identifers: GC16M029079 GC16P030386 GC16P030062 GC16P030102 GC16P029971 GC16P027726


(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 ALDOA Gene:
The protein encoded by this gene, Aldolase A (fructose-bisphosphate aldolase), is a glycolytic enzyme that
catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and
dihydroxyacetone phosphate. Three aldolase isozymes (A, B, and C), encoded by three different genes, are
differentially expressed during development. Aldolase A is found in the developing embryo and is produced in even
greater amounts in adult muscle. Aldolase A expression is repressed in adult liver, kidney and intestine and
similar to aldolase C levels in brain and other nervous tissue. Aldolase A deficiency has been associated with
myopathy and hemolytic anemia. Alternative splicing and alternative promoter usage results in multiple transcript
variants. Related pseudogenes have been identified on chromosomes 3 and 10. (provided by RefSeq, Aug 2011)

GeneCards Summary for ALDOA Gene: 
ALDOA (aldolase A, fructose-bisphosphate) is a protein-coding gene. Diseases associated with ALDOA include glycogen storage disease type 12, and eumycotic mycetoma, and among its related super-pathways are Glycolysis and gluconeogenesis (short map) and Metabolic pathways. GO annotations related to this gene include cytoskeletal protein binding and identical protein binding. An important paralog of this gene is ALDOC.

UniProtKB/Swiss-Prot: ALDOA_HUMAN, P04075
Function: Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding
protein (By similarity)

Gene Wiki entry for ALDOA (Aldolase A) 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_000016.9  NT_010393.16  NC_018927.2  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the ALDOA gene promoter:
         NF-1/L   NF-1   AP-1   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 4): ALDOA promoter sequence
   Search SABiosciences Chromatin IP Primers for ALDOA

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat ALDOA


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

Entrez Gene cytogenetic band: 16p11.2   Ensembl cytogenetic band:  16p11.2   HGNC cytogenetic band: 16p11.2

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

GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16P030064:  view genomic region     (about GC identifiers)

Start:
30,064,411 bp from pter      End:
30,081,778 bp from pter
Size:
17,368 bases      Orientation:
plus strand

(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: ALDOA_HUMAN, P04075 (See protein sequence)
Recommended Name: Fructose-bisphosphate aldolase A  
Size: 364 amino acids; 39420 Da
Subunit: Homotetramer. Interacts with SNX9 and WAS (By similarity)
Miscellaneous: In vertebrates, three 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 ALDOA:
1ALD (3D)        2ALD (3D)        4ALD (3D)    
Secondary accessions: B4DXI7 Q6FH76 Q6FI10 Q96B15 Q9BWD9 Q9UCN2
Alternative splicing: 2 isoforms:  P04075-1   P04075-2   

Explore the universe of human proteins at neXtProt for ALDOA: NX_P04075

Explore proteomics data for ALDOA at MOPED 

Post-translational modifications:

  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_P04075

  • 4/22 DME Specific Peptides for ALDOA (P04075) (see all 22)
     PDGDHDL  LARYASI  PWALTFS  LSGGQSE 

    ALDOA Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    ALDOA Protein Expression
    REFSEQ proteins (5 alternative transcripts): 
    NP_000025.1  NP_001121089.1  NP_001230106.1  NP_908930.1  NP_908932.1  

    ENSEMBL proteins: 
     ENSP00000336927   ENSP00000378669   ENSP00000455724   ENSP00000457683   ENSP00000456020  
     ENSP00000455700   ENSP00000455800   ENSP00000400452   ENSP00000457643   ENSP00000455917  
     ENSP00000457468   ENSP00000455857   ENSP00000378661   ENSP00000454499   ENSP00000455455  
     ENSP00000457514   ENSP00000456098  
    Reactome Protein details: P04075
    Human Recombinant Protein Products for ALDOA: 
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    OriGene Purified Proteins for ALDOA
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    OriGene MassSpec for ALDOA 
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    GenScript Custom Purified and Recombinant Proteins Services for ALDOA
    Novus Biologicals ALDOA Proteins
    Novus Biologicals ALDOA Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for ALDOA
    Cloud-Clone Corp. Proteins for ALDOA 

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005829cytosol TAS--
    GO:0015629actin cytoskeleton IDA9244396
    GO:0031093platelet alpha granule lumen TAS--
    GO:0031674I band TAS1008835

    ALDOA for ontologies           About GeneDecksing



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

    Graphical View of Domain Structure for InterPro Entry P04075

    ProtoNet protein and cluster: P04075

    1 Blocks protein domain: IPB000741 Fructose-bisphosphate aldolase

    UniProtKB/Swiss-Prot: ALDOA_HUMAN, P04075
    Similarity: Belongs to the class I fructose-bisphosphate aldolase family


    ALDOA 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: ALDOA_HUMAN, P04075
    Function: Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding
    protein (By similarity)
    Catalytic activity: D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate
    Biophysicochemical properties: Kinetic parameters: KM=52 uM for fructose 1,6-bisphosphate (at 30 degrees Celsius);
    Temperature dependence: Thermal denaturation midpoint (Tm) is 54.4 degrees Celsius;

         Genatlas biochemistry entry for ALDOA:
    aldolase A,fructose-bisphosphate,expressed in muscle (M type),and in most other tissues,(N and H
    types),overexpressed in most lung cancers,homotetramer,fructose metabolism,energy pathway,more affinity for F-1-P
    than for F-1,6-P

         Enzyme Number (IUBMB): EC 4.1.2.131 2

         Gene Ontology (GO): 5/7 molecular function terms (GO ID links to tree view) (see all 7):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS1008835
    GO:0004332fructose-bisphosphate aldolase activity IDA14766013
    GO:0005515protein binding IPI--
    GO:0008092cytoskeletal protein binding IDA9244396
    GO:0015631tubulin binding TAS17329259
         
    ALDOA for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for ALDOA:
     Decreased G3BP1 protein expres  Increased HPV18 LCR reporter a 

    Animal Models:
       inGenious Targeting Laboratory - Custom generated mouse model solutions for ALDOA 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for ALDOA

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

    miRNA
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    miRTarBase miRNAs that target ALDOA:
    hsa-mir-122 (MIRT003085)

    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat ALDOA
    8/9 QIAGEN miScript miRNA Assays for microRNAs that regulate ALDOA (see all 9):
    hsa-miR-3659 hsa-miR-34a hsa-miR-34c-5p hsa-miR-4254 hsa-miR-449b hsa-miR-122 hsa-miR-3116 hsa-miR-3121-3p
    SwitchGear 3'UTR luciferase reporter plasmidALDOA 3' UTR sequence
    Inhib. RNA
    Products:
        
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    Clone
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    GenScript: all cDNA clones in your preferred vector (see all 4): ALDOA (NM_001127617)
    Sino Biological Human cDNA Clone for ALDOA
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDOA
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                         Customized lentivirus expression plasmids for stable overexpression of ALDOA 

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDOA


    (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 ALDOA About   (see all 14)                                                                                              See pathways by source

    SuperPathContained pathways About
    1Glycolysis and gluconeogenesis (short map)
    Glycolysis and gluconeogenesis (short map)0.60
    Conversion of glucose to acetyl CoA and entry into the TCA cycle0.46
    Glycolysis and Gluconeogenesis0.60
    Glycolysis / Gluconeogenesis0.46
    glycolysis0.50
    gluconeogenesis0.39
    2Metabolism
    Metabolism0.40
    Metabolic pathways0.40
    3Glucose metabolism
    Glucose metabolism0.50
    Glycolysis0.44
    Gluconeogenesis0.50
    4Platelet degranulation
    Platelet degranulation 0.94
    Response to elevated platelet cytosolic Ca2+0.94
    5Platelet activation, signaling and aggregation
    Hemostasis0.43
    Platelet activation, signaling and aggregation0.43

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 EMD Millipore Pathway for ALDOA
        Glycolysis and gluconeogenesis (short map)


    1 Cell Signaling Technology (CST) Pathway for ALDOA
        Glucose / Energy Metabolism

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

    5/7 BioSystems Pathways for ALDOA (see all 7)
        SIDS Susceptibility Pathways
    Glycolysis and Gluconeogenesis
    sucrose degradation V (mammalian)
    gluconeogenesis
    glycolysis


    5/9        Reactome Pathways for ALDOA (see all 9)
        Gluconeogenesis
    Hemostasis
    Metabolism of carbohydrates
    Platelet degranulation
    Metabolism


    5/7         Kegg Pathways  (Kegg details for ALDOA) (see all 7):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Metabolic pathways
    Carbon metabolism

    UniProtKB/Swiss-Prot: ALDOA_HUMAN, P04075
    Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from
    D-glucose: step 4/4


    ALDOA for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for ALDOA

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

    5/162 Interacting proteins for ALDOA (P040752, 3 ENSP000003369274) via UniProtKB, MINT, STRING, and/or I2D (see all 162)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCNAP120042, 3MINT-7995368 MINT-7995105 MINT-7995093 I2D: score=2 
    HSP90AB1P082382, 3MINT-72651 I2D: score=3 
    ENSG00000183311P074373I2D: score=1 
    ENSG00000224156P074373I2D: score=1 
    ENSG00000227739P074373I2D: score=1 
    About this table

    Gene Ontology (GO): 5/16 biological process terms (GO ID links to tree view) (see all 16):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002576platelet degranulation TAS--
    GO:0005975carbohydrate metabolic process TAS--
    GO:0006000fructose metabolic process IMP14615364
    GO:0006006glucose metabolic process TAS--
    GO:0006094gluconeogenesis TAS--

    ALDOA 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

    ALDOA for compounds           About GeneDecksing

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

    Browse Tocris compounds for ALDOA

    6 HMDB Compounds for ALDOA    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--

    4 DrugBank Compounds for ALDOA    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    1,3-Dihydroxyacetonephosphate-- --target--17139284 17016423 10592235
    1,6-Fructose Diphosphate (Linear Form)-- --target--17139284 17016423 10592235
    1,6-DI-O-PHOSPHONO-D-MANNITOL-- --target--10592235
    N-(4-CHLOROPHENYL)-3-(PHOSPHONOOXY)NAPHTHALENE-2-CARBOXAMIDE-- --target--10592235

    10/20 Novoseek inferred chemical compound relationships for ALDOA gene (see all 20)    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    fructose-1,6-bisphosphate 87.3 17 7873595 (3), 20362419 (2), 14766013 (1), 9244396 (1) (see all 10)
    fructose 1-phosphate 81.6 1 9244396 (1)
    glyceraldehyde 3-phosphate 68.8 16 16342241 (1), 16429459 (1), 17522440 (1), 12416718 (1) (see all 12)
    glyceraldehyde 68.6 2 18855937 (1)
    dhap 55.5 1 14615364 (1)
    fructose 41.5 3 15554702 (1), 8213611 (1)
    pyruvate 31.5 4 12923786 (1), 15199064 (1), 8089148 (1), 18097564 (1)
    ethanol 23.9 8 11102439 (3), 16531087 (1), 2245474 (1), 10096079 (1) (see all 5)
    glycogen 22 1 17614033 (1)
    nadh 15.3 1 17614033 (1)

    Search CenterWatch for drugs/clinical trials and news about ALDOA

    (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 ALDOA gene (6 alternative transcripts): 
    NM_000034.3  NM_001127617.2  NM_001243177.1  NM_184041.2  NM_184043.2  NM_001243175.1  

    Unigene Cluster for ALDOA:

    Aldolase A, fructose-bisphosphate
    Hs.513490  [show with all ESTs]
    Unigene Representative Sequence: AK098778
    18/27 Ensembl transcripts including schematic representations, and UCSC links where relevant (see all 27):
    ENST00000338110(uc010bzo.2 uc002dvx.3) ENST00000395248 ENST00000575627
    ENST00000566897(uc002dvw.3) ENST00000568435 ENST00000562240 ENST00000566280
    ENST00000567249 ENST00000562302 ENST00000562168 ENST00000569545 ENST00000563060(uc002dvz.3)
    ENST00000564521 ENST00000412304(uc002dwa.4) ENST00000563987 ENST00000564546(uc002dwc.3)
    ENST00000564595(uc010veg.2) ENST00000567555

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    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDOA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDOA
    Sirion Biotech Customized lentivirus for stable overexpression of ALDOA 
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      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat ALDOA
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDOA

    Additional mRNA sequence: 

    AK026577.1 AK098778.1 AK301993.1 BC000367.2 BC004333.1 BC010660.1 BC012880.1 BC013614.1 
    BC015888.2 BC016170.1 BC016800.1 BX647566.1 CR536528.1 CR541880.1 D28356.1 EF036496.1 
    EF036497.1 M11560.1 M21190.1 X05236.1 

    24/174 DOTS entries (see all 174):

    DT.91982597  DT.95190480  DT.451923  DT.100060541  DT.95342631  DT.91852443  DT.95369199  DT.120698216 
    DT.100893618  DT.120697488  DT.102841900  DT.100893625  DT.91981958  DT.120695238  DT.120696645  DT.95349096 
    DT.100893576  DT.120697916  DT.102841954  DT.91678286  DT.95320363  DT.100698523  DT.95130849  DT.100893640 

    24/4189 AceView cDNA sequences (see all 4189):

    BM553118 BG420351 BM694519 BE255793 BM705863 CR601483 BU558316 BM917075 
    CF142448 BM917150 BM843164 CF135232 BE615785 BE712709 BF339118 BP367363 
    BM475658 CB141165 BQ650007 CR622931 BE712795 BM559606 BX446358 BQ020020 

    GeneLoc Exon Structure

    5/24 Alternative Splicing Database (ASD) splice patterns (SP) for ALDOA (see all 24)    About this scheme

    ExUns: 1a · 1b · 1c · 1d · 1e ^ 2a · 2b ^ 3a · 3b ^ 4a · 4b ^ 5a · 5b · 5c ^ 6a · 6b · 6c ^ 7a · 7b · 7c ^ 8a · 8b ^ 9a · 9b · 9c · 9d ·
    SP1:                                -           -                                                           -                 -     -     -     -     -     -   
    SP2:                                            -     -                                                     -                 -     -     -     -     -     -   
    SP3:                                                                                                                          -     -     -     -     -     -   
    SP4:                                                                                                                                -     -     -     -     -   
    SP5:                                                                                                                                                            

    ExUns: 9e ^ 10 ^ 11a · 11b · 11c ^ 12a · 12b · 12c ^ 13 ^ 14a · 14b · 14c ^ 15a · 15b · 15c ^ 16 ^ 17a · 17b ^ 18a · 18b ^ 19a · 19b
    SP1:  -     -                                   -                                         -                                             
    SP2:  -     -                                   -                                         -                                             
    SP3:  -     -                                   -                                         -                                             
    SP4:  -     -                                   -                                         -                                             
    SP5:        -                                   -                                         -                                             


    ECgene alternative splicing isoforms for ALDOA

    (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

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


    ALDOA expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/22 selected tissues (see all 22) fully expand
     
     Brain (Nervous System)    fully expand to see all 9 entries
             Thalamus
             ganglion/cranial   
     
     Heart (Cardiovascular System)    fully expand to see all 3 entries
             heart/ventricle   
     
     Neural Tube (Nervous System)    fully expand to see all 3 entries
             Metencephalon
     
     Nose (Sensory Organs)    fully expand to see all 2 entries
             sensory organ/nose/nasal cavity   
     
     Lower Urinary Tract (Urinary System)    fully expand to see all 2 entries
             visceral organ   

    See ALDOA Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for ALDOA

    SOURCE GeneReport for Unigene cluster: Hs.513490
        SABiosciences Expression via Pathway-Focused PCR Arrays including ALDOA: 
              Hypoxia Signaling Pathway in human mouse rat
              Hepatotoxicity in human mouse rat
              Glucose Metabolism in human mouse rat

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    (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 eukaryotes.

    Orthologs for ALDOA gene from 8/20 species (see all 20)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Aldoa1 , 5 aldolase A, fructose-bisphosphate1, 5 90.38(n)1
    97.8(a)1
      7 (69.25 cM)5
    116741  NM_001177307.11  NP_001170778.11 
     1267952345 
    lizard
    (Anolis carolinensis)
    Reptilia ALDOA6
    Fructose-bisphosphate aldolase
    92(a)
    1 ↔ 1
    GL343279.1(323095-342310)
    African clawed frog
    (Xenopus laevis)
    Amphibia MGC530302 similar to aldolase A 80.9(n)    AB002267.1 
    zebrafish
    (Danio rerio)
    Actinopterygii AY394966.12   -- 79.58(n)   336425  AY394966.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta Ald3 glycolysis fructose-bisphosphate
    aldolase
    69(a)
    (best of 2)
      3 97A6   --
    worm
    (Caenorhabditis elegans)
    Secernentea T05D4.13
    aldo-21
    Fructose-bisphosphate aldolase class-I3
    Protein ALDO-21
    67(a)
    (best of 3)3
    63.11(n)1
    66.29(a)1
      III(13634767-13636203)3
    1758271  NM_001026069.41  NP_001021240.11 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT4G265301 fructose-bisphosphate aldolase, class I 60.92(n)
    64.37(a)
      828759  NM_118786.3  NP_194383.1 
    rice
    (Oryza sativa)
    Liliopsida Os.463862 Oryza sativa (japonica cultivar-group) cDNA clone0 more 78.12(n)    AK058288.1 


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

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for ALDOA gene
    ALDOC2  ALDOB2  
    2 SIMAP similar genes for ALDOA using alignment to 10 protein entries:     ALDOA_HUMAN (see all proteins):
    ALDOC    ALDOB

    ALDOA for paralogs           About GeneDecksing


    3 Pseudogenes.org Pseudogenes for ALDOA
    PGOHUM00000238648 PGOHUM00000262203 PGOHUM00000238037


    (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

    10/448 SNPs in ALDOA are shown (see all 448)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 16 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0441424
    Glycogen storage disease 12 (GSD12)4--see VAR_0441422 E K mis40--------
    VAR_0441434
    Glycogen storage disease 12 (GSD12)4--see VAR_0441432 C Y mis40--------
    VAR_0005504
    Glycogen storage disease 12 (GSD12)4--see VAR_0005502 D G mis40--------
    rs1388246671,2,4
    C,FGlycogen storage disease 12 (GSD12)4 --30980856(+) CGAGCG/AGTCAG 10 /S /G mis12Minor allele frequency- A:0.00NA EU 5875
    rs1138970281,2
    F--30062620(+) GAGGCG/CAAGGC 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1128390641,2
    C--30067535(+) AAGCAG/ATTCTC 1 -- int11Minor allele frequency- A:0.00CSA 1
    rs354118081,2
    C--30074462(-) TTTAA-/TTTTTT 3 -- int1 us2k12Minor allele frequency- T:0.25NA 4
    rs1136672761,2
    C--30961833(+) TGGCCC/TGTAAT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1469036451,2
    --30962051(+) ATGGAC/TAAACC 1 -- us2k10--------
    rs1392867151,2
    --30962202(+) ACAAGA/GGCAAA 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for ALDOA (30064411 - 30081778 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 4 variations for ALDOA:    About this table     
    Variant IDTypeSubtypePubMed ID
    nsv833187CNV Loss17160897
    dgv2668n71CNV Loss21882294
    nsv905720CNV Loss21882294
    dgv846e1CNV Complex17122850


    Human Gene Mutation Database (HGMD): ALDOA
    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, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 103850   
    OMIM disorders: 611881  
    UniProtKB/Swiss-Prot: ALDOA_HUMAN, P04075
  • Glycogen storage disease 12 (GSD12) [MIM:611881]: A metabolic disorder associated with increased hepatic
    glycogen and hemolytic anemia. It may lead to myopathy with exercise intolerance and rhabdomyolysis. Note=The
    disease is caused by mutations affecting the gene represented in this entry

  • 20/48 diseases for ALDOA (see all 48):    About MalaCards
    glycogen storage disease type 12    eumycotic mycetoma    mycetoma    pancreatic cystadenoma
    lung cancer    hemolytic anemia    glycogen storage disease    klebsiella
    myopathy    breast adenocarcinoma    anemia    cystadenoma
    progressive supranuclear palsy    brain ischemia    myoclonus    cerebrovascular disease
    morbid obesity    endocarditis    wiskott-aldrich syndrome    metabolic disorders

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

    ALDOA for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:  
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    10/13 Novoseek inferred disease relationships for ALDOA gene (see all 13)    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    anemia hemolytic 54.8 6 2229018 (2), 14766013 (1), 1433940 (1), 15632214 (1)
    urinary tract diseases 31.6 2 1509638 (1), 8486529 (1)
    rhabdomyolysis 30.4 1 15632214 (1)
    myopathy 27.1 4 11797371 (1), 9847997 (1), 8999331 (1), 8598869 (1)
    carcinoma renal cell 15.8 3 8486529 (2), 1509638 (1)
    hemolysis 14.5 2 8999331 (1), 8598869 (1)
    cancer 7.12 7 2366323 (2), 8046542 (1), 16313824 (1), 1316419 (1) (see all 5)
    myeloid leukemia chronic 1.58 1 1433940 (1)
    leukemia 0 4 1433940 (4)
    cancer lung 0 9 2004336 (3), 14516129 (2), 1316419 (2), 9500467 (1)

    Genatlas disease: ALDOA
    hemolytic anemia

    Genetic Association Database (GAD): ALDOA
    Human Genome Epidemiology (HuGE) Navigator: ALDOA (1 document)

    Export disorders for ALDOA 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 ALDOA gene, integrated from 9 sources (see all 229):
    (articles sorted by number of sources associating them with ALDOA)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). (PubMed id 14615364)1, 2, 4, 9 Yao D.C....Neufeld E.J. (2004)
    2. Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. (PubMed id 14766013)1, 2, 9 Esposito G.... Salvatore F. (2004)
    3. Human aldolase A of a hemolytic anemia patient with Asp-128-->Gly substitution: characteristics of an enzyme generated in E. coli transfected with the expression plasmid pHAAD128G. (PubMed id 2229018)1, 2, 9 Takasaki Y.... Hori K. (1990)
    4. The crystal structure of human muscle aldolase at 3.0-A resolution. (PubMed id 2335208)1, 2, 9 Gamblin S.J....Watson H.C. (1990)
    5. Crystal structure of human muscle aldolase complexed with fructose 1,6-bisphosphate: mechanistic implications. (PubMed id 10048322)1, 2, 9 Dalby A.... Littlechild J.A. (1999)
    6. Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. (PubMed id 8598869)1, 2, 9 Kreuder J....Lampert F. (1996)
    7. Identification of transglutaminase substrates in HT29 colon cancer cells: use of 5-(biotinamido)pentylamine as a transglutaminase- specific probe. (PubMed id 1353685)1, 2, 9 Lee K.N....Conway E. (1992)
    8. Association and mutation analyses of 16p11.2 autism candidate genes. (PubMed id 19242545)1, 4 Kumar R.A....Christian S.L. (2009)
    9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    10. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)

    (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: 226 HGNC: 414 AceView: ALDOA Ensembl:ENSG00000149925 euGenes: HUgn226
    ECgene: ALDOA Kegg: 226 H-InvDB: ALDOA

    (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 ALDOA Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/ALDOA

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

    Licensable Technologies for ALDOA 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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