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

ALDOA Gene

protein-coding   GIFtS: 72
GCID: GC16P030064

aldolase A, fructose-bisphosphate
 Explore 55 diseases affiliated with
ALDOA via
MalaCards
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 Human Malady Compendium 
Biological research products
for ALDOA    

Aliases
for ALDOA gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
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


Summaries
for ALDOA gene

(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:
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)

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)


Genomic Views
for ALDOA 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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000016.9  NC_018927.1  NT_010393.16  
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

Proteins
for ALDOA gene

(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: 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
Sequence caution: Sequence=BAG63399.1; Type=Erroneous initiation;
3 PDB 3D structures from and Proteopedia for ALDOA:
1ALD (3D)        2ALD (3D)        4ALD (3D)    
Secondary accessions: B4DXI7 Q6FH76 Q6FI10 Q96B15 Q9BWD9 Q9UCN2

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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • 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 MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

    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: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse recombinant and purified proteins available from Enzo Life Sciences
    OriGene Purified Proteins (see all 4): ALDOA
    OriGene Protein Over-expression Lysate (see all 5): ALDOA
    OriGene Custom Protein Services for ALDOA 
    GenScript Custom Purified and Recombinant Proteins Services for ALDOA
    Novus Biologicals ALDOA Proteins
    Novus Biologicals ALDOA Lysates
    Browse Sino Biological Recombinant Proteins
    ProSpec Recombinant Protein for ALDOA
    Uscn 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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    ThermoFisher Antibodies for ALDOA

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    Uscn ELISAs and CLIAs for ALDOA

    Protein Domains /
    Families
    for ALDOA gene

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

    2 InterPro domains/families:
     IPR013785 Aldolase_TIM
     IPR000741 Aldolase_I

    Graphical View of Domain Structure for InterPro Entry P04075

    ProtoNet protein and cluster: P04075

    1 Blocks protein family: IPB000741 Fructose-bisphosphate aldolase

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


    Function
    for ALDOA gene

    (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: 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

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

    OriGene 3'-UTR Clone (see all 4): ALDOA
    Browse MicroRNA Expression Plasmids
    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 plasmid: ALDOA 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALDOA (see all 7)
    OriGene shRNA RFP: ALDOA
    OriGene siRNA: ALDOA
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDOA

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for ALDOA

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDOA (see all 8)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for ALDOA (see all 7)
    OriGene custom cloning services – gene synthesis, subcloning, mutagenesis, variant library, vector shuttling 
    GenScript: all cDNA clones in your preferred vector (see all 4): ALDOA (NM_001127617)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDOA 

    Cell Line
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    Search LifeMap BioReagents cell lines for ALDOA

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

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

    GO IDQualified GO termEvidencePubMed IDs
    GO:0003779actin binding TAS1008835
    GO:0004332fructose-bisphosphate aldolase activity IDA9244396
    GO:0008092cytoskeletal protein binding IDA9244396
    GO:0015631tubulin binding TAS17329259
    GO:0042802identical protein binding TAS14766013


    ALDOA for ontologies           About GeneDecksing


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


    Pathways & Interactions
    for ALDOA gene

    (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 - 5/13 super-pathways (see all 13) About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Glycolysis and gluconeogenesis (short map)
    		Glycolysis and gluconeogenesis (short map)1.00
    		Glycolysis and Gluconeogenesis0.60
    		Glycolysis and gluconeogenesis (short map)0.97
    		Glycolysis / Gluconeogenesis0.41
    2Glucose metabolism
    		Glucose metabolism1.00
    		Glycolysis0.44
    		Gluconeogenesis0.50
    3Platelet activation, signaling and aggregation
    		Platelet activation, signaling and aggregation1.00
    		Hemostasis0.43
    4Platelet degranulation
    		Platelet degranulation 1.00
    		Response to elevated platelet cytosolic Ca2+0.94
    5Metabolism
    		Metabolism1.00
    		Metabolic pathways0.38

    Pathway sources
    See GeneCards unified pathways
    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)

    5/6 BioSystems Pathways for ALDOA (see all 6) 
        SIDS Susceptibility Pathways
    sucrose degradation V (mammalian)
    Glycolysis and Gluconeogenesis
    HIF-1-alpha transcription factor network
    glycolysis I

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


    4         Kegg Pathways  (Kegg details for ALDOA):
        Glycolysis / Gluconeogenesis
    Pentose phosphate pathway
    Fructose and mannose metabolism
    Metabolic pathways

    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)

    5/155 Interacting proteins for ALDOA (P040752, 3 ENSP000003369274) via UniProtKB, MINT, STRING, and/or I2D (see all 155)

    InteractantInteraction Details
    GeneCardExternal ID(s)
    PCNAP120042, 3MINT-7995368 MINT-7995105 MINT-7995093 I2D: score=2 
    HSP90AB1P082382, 3MINT-72651 I2D: score=3 
    YWHAZP631042, 3, ENSP000003095034MINT-3304695 I2D: score=2 STRING: ENSP00000309503
    XRN1Q8IZH23, ENSP000002649514I2D: score=4 STRING: ENSP00000264951
    PLD2O149393, ENSP000002630884I2D: score=3 STRING: ENSP00000263088
    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



    Drugs & Compounds
    for ALDOA gene

    (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

    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 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 

    Transcripts
    for ALDOA gene

    (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 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

    miRNA
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    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 plasmid: ALDOA 3' UTR sequence
    Inhib. RNA
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    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for ALDOA (see all 7)
    OriGene shRNA RFP: ALDOA
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    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat ALDOA
    Clone
    Products:             		 OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for ALDOA (see all 8)
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    GenScript: all cDNA clones in your preferred vector (see all 4): ALDOA (NM_001127617)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for ALDOA
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat ALDOA 
    Primer
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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 cDNA 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):

    BE744449 CR624362 BM910721 BU164031 BM763390 CF130911 BM462045 BU726770 
    BM784420 CB133007 BE745925 BQ052694 AW675245 BE712340 BQ962542 BM559606 
    BX437876 BI870033 AL535077 AJ709322 BG030325 BG260927 AI342442 AA401909 

    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

    Expression
    for ALDOA gene

    (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)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: GCGACCGTCA

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

    ALDOA expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    Skeletal MuscleHyoid Arch MusclesMononuclear MyocytesSkeletal Muscle
    Skeletal MuscleMandibular Arch MusclesMononuclear MyocytesSkeletal Muscle
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization
    Stem Cell Differentiation: 1 LifeMap Cell 
    NameCategory
    ES04(HES-4) (Embryonic Stem Cell)Early Embryo, Inner Cell Mass

    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

    Primer
    Products:    		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for ALDOA
    Browse OriGene validated miRNA SYBR primer pairs
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat ALDOA
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for ALDOA

    Orthologs
    for ALDOA gene

    (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 7/29 species (see all 29)    About this table
    Organism Taxonomic
    classification    		 Gene Description Human
    Similarity    		 Orthology
    Type    		 Details
    lizard
    (Anolis carolinensis)    		 Reptilia ALDOA6
    		 --
    		 92(a)
    		 1 ↔ 1
    		 GL343279.1(334782-341169)
    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
    for ALDOA gene

    (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


    Genomic Variants
    for ALDOA gene

    (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

    10/344 NCBI SNPs in ALDOA are shown (see all 344)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 16 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1136672761,2
    		C,--30062458(+) TGGCCC/TGTAAT 1 -- us2k11Minor allele frequency- T:0.50WA 2
    rs1138970281,2
    		--30062620(+) GAGGCG/CAAGGC 1 -- us2k11Minor allele frequency- C:0.50CSA 2
    rs1469036451,2
    		--30062676(+) ATGGAC/TAAACC 1 -- us2k10--------
    rs1392867151,2
    		--30062827(+) ACAAGA/GGCAAA 1 -- us2k10--------
    rs1815226081,2
    		--30062856(+) AAAAAA/GAAAAG 1 -- us2k10--------
    rs1409969311,2
    		--30062874(+) AGAAA-/AAAG  
                AAAGA     		1 -- us2k10--------
    rs799687331,2
    		F,--30062919(+) CAAGGC/ATCCCA 1 -- us2k11Minor allele frequency- A:0.03EA 120
    rs1858149071,2
    		--30062947(+) AGAGCC/TCAGGA 1 -- us2k10--------
    rs782107581,2
    		F,--30063191(+) AGAGGG/ATGTTC 1 -- us2k12Minor allele frequency- A:0.10WA NA 238
    rs1168780641,2
    		F,--30063549(+) GTGTGC/TGTGGT 1 -- us2k11Minor allele frequency- T:0.10NA 120

    HapMap Linkage Disequilibrium report for ALDOA (30064411 - 30081778 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for ALDOA
         3 CNVs: 4940 35383 4001
    Human Gene Mutation Database (HGMD): ALDOA

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing ALDOA
    DNA2.0 Custom Variant and Variant Library Synthesis for ALDOA

    Disorders / Diseases
    for ALDOA gene

    (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
    ALDOA for disorders           About GeneDecksing

    OMIM gene information: 103850   
    OMIM disorders: 611881  
    UniProtKB/Swiss-Prot: ALDOA_HUMAN, P04075
  • Defects in ALDOA are the cause of glycogen storage disease type 12 (GSD12) [MIM:611881]; also known as red
    • cell aldolase deficiency. A metabolic disorder associated with increased hepatic glycogen and hemolytic anemia. It may
    lead to myopathy with exercise intolerance and rhabdomyolysis

    20/55 diseases for ALDOA (see all 55):    About MalaCards
    aldolase a deficiency    hemolytic anemia    glycogen storage disease type 12    glycogen storage disease
    anemia    myopathy    eumycotic mycetoma    lung cancer
    supranuclear palsy    wiskott-aldrich syndrome    progressive supranuclear palsy    fructose intolerance
    klebsiella    mycetoma    pancreatic cystadenoma    morbid obesity
    rheumatoid arthritis    macular degeneration    fanconi's anemia    intrahepatic cholangiocarcinoma

    10/13 Novoseek 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

    Publications
    for ALDOA gene

    (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 214):
    (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. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)1, 2 Olsen J.V....Mann M. (2006)
    9. 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)
    10. Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides. (PubMed id 12665801)1, 2 Gevaert K.... Vandekerckhove J. (2003)

    External Searches for ALDOA gene

    (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)

    Genome Databases showing ALDOA gene

    (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

    Other Databases showing ALDOA gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing ALDOA gene

    (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

    Intellectual Property
    for ALDOA gene

    (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



    Products
    for ALDOA gene

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    About This Section

     
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