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ALDOA (aldolase, fructose-bisphosphate A)

Identity

Alias (NCBI)ALDA
GSD12
HEL-S-87p
HGNC (Hugo) ALDOA
HGNC Previous namealdolase A, fructose-bisphosphate
LocusID (NCBI) 226
Atlas_Id 46848
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30064279 and ends at 30070420 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ECE1 (1p36.12)::ALDOA (16p11.2)FBXW2 (9q33.2)::ALDOA (16p11.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 



External links

 

Nomenclature
HGNC (Hugo)ALDOA   414
LRG (Locus Reference Genomic)LRG_1180
Cards
Entrez_Gene (NCBI)ALDOA    aldolase, fructose-bisphosphate A
AliasesALDA; GSD12; HEL-S-87p
GeneCards (Weizmann)ALDOA
Ensembl hg19 (Hinxton)ENSG00000149925 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149925 [Gene_View]  ENSG00000149925 [Sequence]  chr16:30064279-30070420 [Contig_View]  ALDOA [Vega]
ICGC DataPortalENSG00000149925
TCGA cBioPortalALDOA
AceView (NCBI)ALDOA
Genatlas (Paris)ALDOA
SOURCE (Princeton)ALDOA
Genetics Home Reference (NIH)ALDOA
Genomic and cartography
GoldenPath hg38 (UCSC)ALDOA  -     chr16:30064279-30070420 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDOA  -     16p11.2   [Description]    (hg19-Feb_2009)
GoldenPathALDOA - 16p11.2 [CytoView hg19]  ALDOA - 16p11.2 [CytoView hg38]
ImmunoBaseENSG00000149925
Genome Data Viewer NCBIALDOA [Mapview hg19]  
OMIM103850   611881   
Gene and transcription
Genbank (Entrez)AK301993 BC000367 BC004333 BC010660 BC012880
RefSeq transcript (Entrez)NM_000034 NM_001127617 NM_001243175 NM_001243177 NM_001355562 NM_001355563 NM_001355564 NM_001355565 NM_184041 NM_184043
Consensus coding sequences : CCDS (NCBI)ALDOA
Gene ExpressionALDOA [ NCBI-GEO ]   ALDOA [ EBI - ARRAY_EXPRESS ]   ALDOA [ SEEK ]   ALDOA [ MEM ]
Gene Expression Viewer (FireBrowse)ALDOA [ Firebrowse - Broad ]
GenevisibleExpression of ALDOA in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)226
GTEX Portal (Tissue expression)ALDOA
Human Protein AtlasENSG00000149925-ALDOA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP04075   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP04075  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP04075
Catalytic activity : Enzyme4.1.2.13 [ Enzyme-Expasy ]   4.1.2.134.1.2.13 [ IntEnz-EBI ]   4.1.2.13 [ BRENDA ]   4.1.2.13 [ KEGG ]   [ MEROPS ]
PhosPhoSitePlusP04075
Domaine pattern : Prosite (Expaxy)ALDOLASE_CLASS_I (PS00158)   
Domains : Interpro (EBI)Aldolase_I_AS    Aldolase_TIM    FBA_I   
Domain families : Pfam (Sanger)Glycolytic (PF00274)   
Domain families : Pfam (NCBI)pfam00274   
Conserved Domain (NCBI)ALDOA
PDB (RSDB)1ALD    2ALD    4ALD    5KY6   
PDB Europe1ALD    2ALD    4ALD    5KY6   
PDB (PDBSum)1ALD    2ALD    4ALD    5KY6   
PDB (IMB)1ALD    2ALD    4ALD    5KY6   
Structural Biology KnowledgeBase1ALD    2ALD    4ALD    5KY6   
SCOP (Structural Classification of Proteins)1ALD    2ALD    4ALD    5KY6   
CATH (Classification of proteins structures)1ALD    2ALD    4ALD    5KY6   
SuperfamilyP04075
AlphaFold pdb e-kbP04075   
Human Protein Atlas [tissue]ENSG00000149925-ALDOA [tissue]
HPRD00070
Protein Interaction databases
DIP (DOE-UCLA)P04075
IntAct (EBI)P04075
BioGRIDALDOA
STRING (EMBL)ALDOA
ZODIACALDOA
Ontologies - Pathways
QuickGOP04075
Ontology : AmiGORNA binding  actin binding  fructose-bisphosphate aldolase activity  fructose-bisphosphate aldolase activity  protein binding  extracellular region  extracellular space  nucleus  cytosol  cytosol  cytosol  fructose metabolic process  glycolytic process  glycolytic process  glycolytic process  ATP biosynthetic process  striated muscle contraction  actin filament organization  binding of sperm to zona pellucida  cytoskeletal protein binding  regulation of cell shape  actin cytoskeleton  tubulin binding  membrane  fructose 1,6-bisphosphate metabolic process  fructose 1,6-bisphosphate metabolic process  platelet alpha granule lumen  M band  I band  secretory granule lumen  identical protein binding  identical protein binding  cadherin binding  muscle cell cellular homeostasis  protein homotetramerization  sperm head  fructose binding  extracellular exosome  extracellular exosome  tertiary granule lumen  ficolin-1-rich granule lumen  
Ontology : EGO-EBIRNA binding  actin binding  fructose-bisphosphate aldolase activity  fructose-bisphosphate aldolase activity  protein binding  extracellular region  extracellular space  nucleus  cytosol  cytosol  cytosol  fructose metabolic process  glycolytic process  glycolytic process  glycolytic process  ATP biosynthetic process  striated muscle contraction  actin filament organization  binding of sperm to zona pellucida  cytoskeletal protein binding  regulation of cell shape  actin cytoskeleton  tubulin binding  membrane  fructose 1,6-bisphosphate metabolic process  fructose 1,6-bisphosphate metabolic process  platelet alpha granule lumen  M band  I band  secretory granule lumen  identical protein binding  identical protein binding  cadherin binding  muscle cell cellular homeostasis  protein homotetramerization  sperm head  fructose binding  extracellular exosome  extracellular exosome  tertiary granule lumen  ficolin-1-rich granule lumen  
Pathways : BIOCARTABIOCARTA_MTA3PATHWAY   
Pathways : KEGGKEGG_GLYCOLYSIS_GLUCONEOGENESIS    KEGG_PENTOSE_PHOSPHATE    KEGG_FRUCTOSE_AND_MANNOSE_METABOLISM   
NDEx NetworkALDOA
Atlas of Cancer Signalling NetworkALDOA
Wikipedia pathwaysALDOA
Orthology - Evolution
OrthoDB226
GeneTree (enSembl)ENSG00000149925
Phylogenetic Trees/Animal Genes : TreeFamALDOA
Homologs : HomoloGeneALDOA
Homology/Alignments : Family Browser (UCSC)ALDOA
Gene fusions - Rearrangements
Fusion : QuiverALDOA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDOA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDOA
dbVarALDOA
ClinVarALDOA
MonarchALDOA
1000_GenomesALDOA 
Exome Variant ServerALDOA
GNOMAD BrowserENSG00000149925
Varsome BrowserALDOA
ACMGALDOA variants
VarityP04075
Genomic Variants (DGV)ALDOA [DGVbeta]
DECIPHERALDOA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisALDOA 
Mutations
ICGC Data PortalALDOA 
TCGA Data PortalALDOA 
Broad Tumor PortalALDOA
OASIS PortalALDOA [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALDOA  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DALDOA
Mutations and Diseases : HGMDALDOA
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaALDOA
DgiDB (Drug Gene Interaction Database)ALDOA
DoCM (Curated mutations)ALDOA
CIViC (Clinical Interpretations of Variants in Cancer)ALDOA
Cancer3DALDOA
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM103850    611881   
Orphanet738   
DisGeNETALDOA
MedgenALDOA
Genetic Testing Registry ALDOA
NextProtP04075 [Medical]
GENETestsALDOA
Target ValidationALDOA
Huge Navigator ALDOA [HugePedia]
ClinGenALDOA
Clinical trials, drugs, therapy
MyCancerGenomeALDOA
Protein Interactions : CTDALDOA
Pharm GKB GenePA24707
PharosP04075
Clinical trialALDOA
Miscellaneous
canSAR (ICR)ALDOA
HarmonizomeALDOA
ARCHS4ALDOA
DataMed IndexALDOA
Probes
Litterature
PubMed233 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXALDOA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Jan 20 12:22:07 CET 2022

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