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Aliases for ALDOA Gene

Aliases for ALDOA Gene

  • Aldolase, Fructose-Bisphosphate A 2 3 5
  • Aldolase A, Fructose-Bisphosphate 2 3
  • Lung Cancer Antigen NY-LU-1 3 4
  • Muscle-Type Aldolase 3 4
  • EC 4.1.2.13 4 58
  • ALDA 3 4
  • Epididymis Secretory Sperm Binding Protein Li 87p 3
  • Fructose-1,6-Bisphosphate Triosephosphate-Lyase 3
  • Fructose-Bisphosphate Aldolase A 3
  • HEL-S-87p 3
  • GSD12 3

External Ids for ALDOA Gene

Previous GeneCards Identifiers for ALDOA Gene

  • GC16M029079
  • GC16P030386
  • GC16P030062
  • GC16P030102
  • GC16P029971
  • GC16P027726

Summaries for ALDOA Gene

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, Fructose-Bisphosphate A) is a Protein Coding gene. Diseases associated with ALDOA include Glycogen Storage Disease Xii and Melanoma-Associated Retinopathy. Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Metabolism. GO annotations related to this gene include poly(A) RNA binding and actin binding. An important paralog of this gene is ALDOC.

UniProtKB/Swiss-Prot for ALDOA Gene

  • Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).

Gene Wiki entry for ALDOA Gene

Additional gene information for ALDOA Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ALDOA Gene

Genomics for ALDOA Gene

Regulatory Elements for ALDOA Gene

Enhancers for ALDOA Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH16H030367 2 FANTOM5 Ensembl ENCODE dbSUPER 10.3 +322.9 322943 17 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 SP3 NFYC MEF2D ZNF610 GLIS1 SETD1A SRCAP INO80E NPIPB12 SMG1P5 SMG1P2 ZNF764 RNF40 ZNF747 ENSG00000260304
GH16H029783 1.8 FANTOM5 Ensembl ENCODE dbSUPER 1.2 -268.6 -268606 2 PKNOX1 ATF1 MLX ZFP64 ARID4B DMAP1 YY1 TCF12 ZNF766 CBX5 C16orf92 NPIPB13 NPIPB12 SRCAP ENSG00000260853 ZNF747 INO80E SPNS1 SMG1P5 ATXN2L
GH16H030052 1.4 ENCODE dbSUPER 0.7 +1.1 1115 3 MLX ZFP64 FEZF1 DMAP1 YY1 SLC30A9 ZNF143 ZNF548 SP3 ZC3H11A SETD1A SRCAP INO80E NPIPB12 ZNF747 ZNF764 SMG1P5 SMG1P2 NPIPB13 BCL7C
GH16H030059 1.3 Ensembl ENCODE dbSUPER 0.4 +8.0 7977 2 HDAC1 PKNOX1 NFIB KLF17 TCF12 RCOR1 ZNF398 ZNF217 NFIC ZSCAN16 YPEL3 ENSG00000274904 ALDOA
GH16H030057 0.4 dbSUPER 0.7 +4.8 4830 1 ZNF600 ZNF24 YPEL3 ALDOA ENSG00000274904
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ALDOA on UCSC Golden Path with GeneCards custom track

Promoters for ALDOA Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00000085145 110 801 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A FEZF1 DMAP1 ZNF2 YY1

Transcription factor binding sites by QIAGEN in the ALDOA gene promoter:

Genomic Location for ALDOA Gene

Chromosome:
16
Start:
30,053,090 bp from pter
End:
30,070,457 bp from pter
Size:
17,368 bases
Orientation:
Plus strand

Genomic View for ALDOA Gene

Genes around ALDOA on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ALDOA Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ALDOA Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ALDOA Gene

Proteins for ALDOA Gene

  • Protein details for ALDOA Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P04075-ALDOA_HUMAN
    Recommended name:
    Fructose-bisphosphate aldolase A
    Protein Accession:
    P04075
    Secondary Accessions:
    • B4DXI7
    • Q6FH76
    • Q6FI10
    • Q96B15
    • Q9BWD9
    • Q9UCN2

    Protein attributes for ALDOA Gene

    Size:
    364 amino acids
    Molecular mass:
    39420 Da
    Quaternary structure:
    • Homotetramer. Interacts with SNX9 and WAS (By similarity). Interacts with FBP2; the interaction blocks FBP2 inhibition by physiological concentrations of AMP and reduces inhibition by Ca(2+).
    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.

    Three dimensional structures from OCA and Proteopedia for ALDOA Gene

    Alternative splice isoforms for ALDOA Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ALDOA Gene

Selected DME Specific Peptides for ALDOA Gene

P04075:
  • LEGTLLKPNMVT
  • RCAQYKKDG
  • KRALANSLACQGKYTPSGQ
  • PWALTFS
  • FSYGRALQAS
  • LKAWGGKKENLKAAQ
  • VPIVEPE
  • GIKVDKG
  • LARYASI
  • PDGDHDL
  • EEIAMATVTALRRTVPPAV
  • ENTEENRR
  • RRFYRQLL
  • LSGGQSE
  • VLAAVYKAL
  • GVILFHET
  • GILAADES
  • FHETLYQK
  • DFAKWRCVLKI
  • GETTTQGLDGL
  • ENANVLARYA
  • CQYVTEKVLAA

Post-translational modifications for ALDOA Gene

  • Ubiquitination at Lys14, posLast=2828, Lys87, Lys108, Lys294, Lys312, posLast=318318, posLast=322322, posLast=330330, and Lys342
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ALDOA (ALDOA)

Domains & Families for ALDOA Gene

Gene Families for ALDOA Gene

Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted secreted proteins

Protein Domains for ALDOA Gene

Suggested Antigen Peptide Sequences for ALDOA Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

P04075

UniProtKB/Swiss-Prot:

ALDOA_HUMAN :
  • Belongs to the class I fructose-bisphosphate aldolase family.
Family:
  • Belongs to the class I fructose-bisphosphate aldolase family.
genes like me logo Genes that share domains with ALDOA: view

Function for ALDOA Gene

Molecular function for ALDOA Gene

GENATLAS Biochemistry:
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
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=52 uM for fructose 1,6-bisphosphate (at 30 degrees Celsius) {ECO:0000269 PubMed:14766013}; Temperature dependence: Thermal denaturation midpoint (Tm) is 54.4 degrees Celsius. {ECO:0000269 PubMed:14766013};
UniProtKB/Swiss-Prot CatalyticActivity:
D-fructose 1,6-bisphosphate = glycerone phosphate + D-glyceraldehyde 3-phosphate.
UniProtKB/Swiss-Prot Function:
Plays a key role in glycolysis and gluconeogenesis. In addition, may also function as scaffolding protein (By similarity).

Enzyme Numbers (IUBMB) for ALDOA Gene

Gene Ontology (GO) - Molecular Function for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003723 RNA binding IDA 22681889
GO:0003779 actin binding TAS 1008835
GO:0003824 catalytic activity IEA --
GO:0004332 fructose-bisphosphate aldolase activity IDA,IEA 9244396
GO:0005515 protein binding IPI 20849852
genes like me logo Genes that share ontologies with ALDOA: view
genes like me logo Genes that share phenotypes with ALDOA: view

Human Phenotype Ontology for ALDOA Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

CRISPR Products

miRNA for ALDOA Gene

miRTarBase miRNAs that target ALDOA

Inhibitory RNA Products

No data available for Phenotypes From GWAS Catalog , Animal Models , Transcription Factor Targets and HOMER Transcription for ALDOA Gene

Localization for ALDOA Gene

Subcellular locations from UniProtKB/Swiss-Prot for ALDOA Gene

Cytoplasm, myofibril, sarcomere, I band. Cytoplasm, myofibril, sarcomere, M line. Note=In skeletal muscle, accumulates around the M line and within the I band, colocalizing with FBP2 on both sides of the Z line in the absence of Ca(2+). {ECO:0000250}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ALDOA gene
Compartment Confidence
extracellular 5
cytoskeleton 5
nucleus 5
cytosol 5
mitochondrion 2
lysosome 1

Subcellular locations from the

Human Protein Atlas (HPA)

Gene Ontology (GO) - Cellular Components for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IDA 23580065
GO:0005634 nucleus IDA 21630459
GO:0005737 cytoplasm IEA --
GO:0005829 cytosol IDA,TAS --
genes like me logo Genes that share ontologies with ALDOA: view

Pathways & Interactions for ALDOA Gene

genes like me logo Genes that share pathways with ALDOA: view

Pathways by source for ALDOA Gene

UniProtKB/Swiss-Prot P04075-ALDOA_HUMAN

  • Pathway: Carbohydrate degradation; glycolysis; D-glyceraldehyde 3-phosphate and glycerone phosphate from D-glucose: step 4/4.

Gene Ontology (GO) - Biological Process for ALDOA Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002576 platelet degranulation TAS --
GO:0006000 fructose metabolic process IMP 14615364
GO:0006094 gluconeogenesis TAS --
GO:0006096 glycolytic process IMP,IEA 14615364
GO:0006754 ATP biosynthetic process IMP 14615364
genes like me logo Genes that share ontologies with ALDOA: view

No data available for SIGNOR curated interactions for ALDOA Gene

Drugs & Compounds for ALDOA Gene

(15) Drugs for ALDOA Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Zinc Approved Pharma Target 2359
1,6-DI-O-PHOSPHONO-D-MANNITOL Experimental Pharma Target 0
1,6-Fructose Diphosphate (Linear Form) Experimental Pharma Target 0
N-(4-CHLOROPHENYL)-3-(PHOSPHONOOXY)NAPHTHALENE-2-CARBOXAMIDE Experimental Pharma Target 0
Glyceraldehyde-3-Phosphate Experimental Pharma 0

(15) Additional Compounds for ALDOA Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
fructose 1-phosphate
  • D-Fructose 1-phosphate
  • D-Fructose-1-P
  • D-Fructose-1-phosphate
  • Fructose 1-phosphate
  • Fructose-1-P
15978-08-2
glyceraldehyde
  • (+/-)-2,3-dihydroxy-Propanal
  • (+/-)-Glyceraldehyde
  • 2,3-Dihydroxypropanal
  • 2,3-Dihydroxypropionaldehyde
  • alpha,beta-Dihydroxypropionaldehyde
56-82-6
beta-D-Fructose 1,6-bisphosphate
D-Erythrose 4-phosphate
  • D-Erythrose 4-phosphate
  • D-Erythrose 4-PO4
  • D-Erythrose-4-P
  • D-Erythrose-4-phosphate
  • Erythrose 4-phosphate
585-18-2
Fructose 1,6-bisphosphate
  • D-Fructose 1,6-biphosphate
  • D-Fructose 1,6-bis(dihydrogen phosphate)
  • D-Fructose 1,6-bisphosphate
  • D-Fructose 1,6-diphosphate
  • D-Fructose-1,6-bisphosphate
488-69-7
genes like me logo Genes that share compounds with ALDOA: view

Transcripts for ALDOA Gene

Unigene Clusters for ALDOA Gene

Aldolase A, fructose-bisphosphate:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Alternative Splicing Database (ASD) splice patterns (SP) for ALDOA Gene

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:
SP6: - - - - - - -
SP7:
SP8:
SP9: - - - - - - -
SP10: - - - - -
SP11:
SP12:
SP13:
SP14:
SP15:
SP16: - - -
SP17: - - - -
SP18: - - - - - -
SP19: - - - - -
SP20: -
SP21: - - - - - -
SP22:
SP23: -
SP24:

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: - - -
SP6: - - -
SP7: - -
SP8: - - - - -
SP9: - - - - -
SP10: - -
SP11: - - - -
SP12: - - -
SP13: - -
SP14:
SP15: -
SP16:
SP17:
SP18: - -
SP19:
SP20:
SP21: - -
SP22:
SP23:
SP24:

Relevant External Links for ALDOA Gene

GeneLoc Exon Structure for
ALDOA
ECgene alternative splicing isoforms for
ALDOA

Expression for ALDOA Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ALDOA Gene

mRNA differential expression in normal tissues according to GTEx for ALDOA Gene

This gene is overexpressed in Muscle - Skeletal (x10.0).

Protein differential expression in normal tissues from HIPED for ALDOA Gene

This gene is overexpressed in Tonsil (6.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ALDOA Gene



Protein tissue co-expression partners for ALDOA Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of ALDOA Gene:

ALDOA

SOURCE GeneReport for Unigene cluster for ALDOA Gene:

Hs.513490

Evidence on tissue expression from TISSUES for ALDOA Gene

  • Eye(5)
  • Lung(5)
  • Nervous system(5)
  • Liver(4.9)
  • Muscle(4.9)
  • Blood(4.8)
  • Skin(4.8)
  • Intestine(4.7)
  • Pancreas(4.5)
  • Heart(4.4)
  • Kidney(4.4)
  • Stomach(3.8)
  • Thyroid gland(3.4)
  • Bone(2.8)
  • Adrenal gland(2.5)
  • Bone marrow(2.5)
  • Gall bladder(2.5)
  • Lymph node(2.4)
  • Spleen(2.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ALDOA Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • skeletal muscle
  • skeleton
Organs:
Head and neck:
  • eye
  • eyelid
  • face
  • forehead
  • head
  • mouth
  • neck
  • scalp
Abdomen:
  • abdominal wall
  • biliary tract
  • gallbladder
  • liver
  • pancreas
  • spleen
Pelvis:
  • fallopian tube
  • ovary
  • penis
  • prostate
  • testicle
  • uterus
  • vagina
  • vas deferens
  • vulva
General:
  • blood
  • hair
  • red blood cell
  • skin
  • spinal column
  • white blood cell
genes like me logo Genes that share expression patterns with ALDOA: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for ALDOA Gene

Orthologs for ALDOA Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ALDOA Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ALDOA 34 33
  • 99.36 (n)
OneToOne
dog
(Canis familiaris)
Mammalia -- 34
  • 95 (a)
OneToMany
ALDOA 33
  • 91.75 (n)
-- 34
  • 56 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Aldoart2 34
  • 93 (a)
OneToMany
Aldoa 16 34 33
  • 90.11 (n)
Aldoart1 34
  • 89 (a)
OneToMany
cow
(Bos Taurus)
Mammalia ALDOA 33 34
  • 92.12 (n)
rat
(Rattus norvegicus)
Mammalia Aldoa 33
  • 89.29 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ALDOA 34
  • 79 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ALDOA 34
  • 64 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ALDOA 34
  • 92 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia aldoa 33
  • 80.68 (n)
Str.6670 33
African clawed frog
(Xenopus laevis)
Amphibia MGC53030 33
zebrafish
(Danio rerio)
Actinopterygii aldoab 34
  • 84 (a)
OneToMany
aldoaa 33 34
  • 75.64 (n)
-- 33
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.2063 33
fruit fly
(Drosophila melanogaster)
Insecta Ald 35 34
  • 69 (a)
CG5432 35 34
  • 57 (a)
worm
(Caenorhabditis elegans)
Secernentea T05D4.1 35
  • 67 (a)
aldo-1 34
  • 66 (a)
ManyToMany
F01F1.12a 35
  • 65 (a)
F01F1.12b 35
  • 64 (a)
aldo-2 33 34
  • 63.11 (n)
rice
(Oryza sativa)
Liliopsida Os08g0120600 33
  • 62.67 (n)
Os.46386 33
corn
(Zea mays)
Liliopsida Zm.7177 33
sea squirt
(Ciona savignyi)
Ascidiacea CSA.11039 34
  • 68 (a)
OneToMany
Species where no ortholog for ALDOA was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ALDOA Gene

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

Paralogs for ALDOA Gene

Paralogs for ALDOA Gene

Pseudogenes.org Pseudogenes for ALDOA Gene

genes like me logo Genes that share paralogs with ALDOA: view

Variants for ALDOA Gene

Sequence variations from dbSNP and Humsavar for ALDOA Gene

SNP ID Clin Chr 16 pos Sequence Context AA Info Type
rs121909533 Pathogenic, Glycogen storage disease 12 (GSD12) [MIM:611881] 30,068,824(+) GTTGG(A/G)TGGGC reference, missense
rs121909534 Pathogenic, Glycogen storage disease 12 (GSD12) [MIM:611881] 30,069,384(+) TGACC(A/G)AGAAG reference, missense
rs138824667 Uncertain significance, Glycogen storage disease 12 (GSD12) [MIM:611881] 30,070,156(+) CGAGC(A/G)GTCAG reference, missense
VAR_044143 Glycogen storage disease 12 (GSD12) [MIM:611881]
rs77290575 Likely benign 30,070,155(+) CCGAG(C/T)GGTCA reference, synonymous-codon

Structural Variations from Database of Genomic Variants (DGV) for ALDOA Gene

Variant ID Type Subtype PubMed ID
esv2758642 CNV gain 17122850
esv3638380 CNV loss 21293372
nsv1160384 CNV duplication 26073780
nsv833187 CNV loss 17160897

Variation tolerance for ALDOA Gene

Residual Variation Intolerance Score: 25% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 1.37; 27.00% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ALDOA Gene

Human Gene Mutation Database (HGMD)
ALDOA
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ALDOA

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ALDOA Gene

Disorders for ALDOA Gene

MalaCards: The human disease database

(8) MalaCards diseases for ALDOA Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
glycogen storage disease xii
  • glycogen storage disease type 12
melanoma-associated retinopathy
hemolytic anemia
  • anemia hemolytic
pancreatic cystadenoma
  • cystadenoma of pancreas
prostate carcinoma in situ
  • carcinoma in situ of prostate
- elite association - COSMIC cancer census association via MalaCards
Search ALDOA in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ALDOA_HUMAN
  • 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. {ECO:0000269 PubMed:14615364, ECO:0000269 PubMed:14766013, ECO:0000269 PubMed:2229018, ECO:0000269 PubMed:2825199, ECO:0000269 PubMed:8598869}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for ALDOA Gene

hemolytic anemia

Relevant External Links for ALDOA

Genetic Association Database (GAD)
ALDOA
Human Genome Epidemiology (HuGE) Navigator
ALDOA
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ALDOA
genes like me logo Genes that share disorders with ALDOA: view

Publications for ALDOA Gene

  1. Hemolytic anemia and severe rhabdomyolysis caused by compound heterozygous mutations of the gene for erythrocyte/muscle isozyme of aldolase, ALDOA(Arg303X/Cys338Tyr). (PMID: 14615364) Yao DC … Neufeld EJ (Blood 2004) 3 4 22 45 60
  2. Evolutionary conserved N-terminal region of human muscle fructose 1,6-bisphosphatase regulates its activity and the interaction with aldolase. (PMID: 18214967) Gizak A … Rakus D (Proteins 2008) 3 4 22 60
  3. Human aldolase A natural mutants: relationship between flexibility of the C-terminal region and enzyme function. (PMID: 14766013) Esposito G … Salvatore F (The Biochemical journal 2004) 3 4 22 60
  4. Crystal structure of human muscle aldolase complexed with fructose 1,6-bisphosphate: mechanistic implications. (PMID: 10048322) Dalby A … Littlechild JA (Protein science : a publication of the Protein Society 1999) 3 4 22 60
  5. Brief report: inherited metabolic myopathy and hemolysis due to a mutation in aldolase A. (PMID: 8598869) Kreuder J … Lampert F (The New England journal of medicine 1996) 3 4 22 60

Products for ALDOA Gene

Sources for ALDOA Gene