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ALDOA (aldolase, fructose-bisphosphate A)

Identity

Alias_namesaldolase A
Other aliasALDA
GSD12
HEL-S-87p
HGNC (Hugo) ALDOA
LocusID (NCBI) 226
Atlas_Id 46848
Location 16p11.2  [Link to chromosome band 16p11]
Location_base_pair Starts at 30053090 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
Cards
Entrez_Gene (NCBI)ALDOA  226  aldolase, fructose-bisphosphate A
AliasesALDA; GSD12; HEL-S-87p
GeneCards (Weizmann)ALDOA
Ensembl hg19 (Hinxton)ENSG00000149925 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000149925 [Gene_View]  chr16:30053090-30070420 [Contig_View]  ALDOA [Vega]
ICGC DataPortalENSG00000149925
TCGA cBioPortalALDOA
AceView (NCBI)ALDOA
Genatlas (Paris)ALDOA
WikiGenes226
SOURCE (Princeton)ALDOA
Genetics Home Reference (NIH)ALDOA
Genomic and cartography
GoldenPath hg38 (UCSC)ALDOA  -     chr16:30053090-30070420 +  16p11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ALDOA  -     16p11.2   [Description]    (hg19-Feb_2009)
EnsemblALDOA - 16p11.2 [CytoView hg19]  ALDOA - 16p11.2 [CytoView hg38]
Mapping of homologs : NCBIALDOA [Mapview hg19]  ALDOA [Mapview hg38]
OMIM103850   611881   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_000034 NM_001127617 NM_001243175 NM_001243177 NM_184041 NM_184043
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ALDOA
Cluster EST : UnigeneHs.732822 [ NCBI ]
CGAP (NCI)Hs.732822
Alternative Splicing GalleryENSG00000149925
Gene ExpressionALDOA [ NCBI-GEO ]   ALDOA [ EBI - ARRAY_EXPRESS ]   ALDOA [ SEEK ]   ALDOA [ MEM ]
Gene Expression Viewer (FireBrowse)ALDOA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression 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
Splice isoforms : SwissVarP04075
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 ]   
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
DMDM Disease mutations226
Blocks (Seattle)ALDOA
PDB (SRS)1ALD    2ALD    4ALD   
PDB (PDBSum)1ALD    2ALD    4ALD   
PDB (IMB)1ALD    2ALD    4ALD   
PDB (RSDB)1ALD    2ALD    4ALD   
Structural Biology KnowledgeBase1ALD    2ALD    4ALD   
SCOP (Structural Classification of Proteins)1ALD    2ALD    4ALD   
CATH (Classification of proteins structures)1ALD    2ALD    4ALD   
SuperfamilyP04075
Human Protein Atlas [tissue]ENSG00000149925-ALDOA [tissue]
Peptide AtlasP04075
HPRD00070
IPIIPI00465439   IPI00796333   
Protein Interaction databases
DIP (DOE-UCLA)P04075
IntAct (EBI)P04075
FunCoupENSG00000149925
BioGRIDALDOA
STRING (EMBL)ALDOA
ZODIACALDOA
Ontologies - Pathways
QuickGOP04075
Ontology : AmiGOplatelet degranulation  RNA binding  actin binding  fructose-bisphosphate aldolase activity  fructose-bisphosphate aldolase activity  protein binding  extracellular region  extracellular space  nucleus  cytosol  cytosol  fructose metabolic process  gluconeogenesis  glycolytic process  ATP biosynthetic process  striated muscle contraction  actin filament organization  cytoskeletal protein binding  regulation of cell shape  actin cytoskeleton  tubulin binding  membrane  fructose 1,6-bisphosphate metabolic process  platelet alpha granule lumen  M band  I band  secretory granule lumen  identical protein binding  neutrophil degranulation  cadherin binding  muscle cell cellular homeostasis  protein homotetramerization  canonical glycolysis  fructose binding  extracellular exosome  tertiary granule lumen  ficolin-1-rich granule lumen  
Ontology : EGO-EBIplatelet degranulation  RNA binding  actin binding  fructose-bisphosphate aldolase activity  fructose-bisphosphate aldolase activity  protein binding  extracellular region  extracellular space  nucleus  cytosol  cytosol  fructose metabolic process  gluconeogenesis  glycolytic process  ATP biosynthetic process  striated muscle contraction  actin filament organization  cytoskeletal protein binding  regulation of cell shape  actin cytoskeleton  tubulin binding  membrane  fructose 1,6-bisphosphate metabolic process  platelet alpha granule lumen  M band  I band  secretory granule lumen  identical protein binding  neutrophil degranulation  cadherin binding  muscle cell cellular homeostasis  protein homotetramerization  canonical glycolysis  fructose binding  extracellular exosome  tertiary granule lumen  ficolin-1-rich granule lumen  
Pathways : BIOCARTADownregulated of MTA-3 in ER-negative Breast Tumors [Genes]   
Pathways : KEGGGlycolysis / Gluconeogenesis    Pentose phosphate pathway    Fructose and mannose metabolism    HIF-1 signaling pathway   
NDEx NetworkALDOA
Atlas of Cancer Signalling NetworkALDOA
Wikipedia pathwaysALDOA
Orthology - Evolution
OrthoDB226
GeneTree (enSembl)ENSG00000149925
Phylogenetic Trees/Animal Genes : TreeFamALDOA
HOVERGENP04075
HOGENOMP04075
Homologs : HomoloGeneALDOA
Homology/Alignments : Family Browser (UCSC)ALDOA
Gene fusions - Rearrangements
Tumor Fusion PortalALDOA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALDOA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALDOA
dbVarALDOA
ClinVarALDOA
1000_GenomesALDOA 
Exome Variant ServerALDOA
ExAC (Exome Aggregation Consortium)ENSG00000149925
GNOMAD BrowserENSG00000149925
Genetic variants : HAPMAP226
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]  
Mutations and Diseases : HGMDALDOA
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ALDOA
DgiDB (Drug Gene Interaction Database)ALDOA
DoCM (Curated mutations)ALDOA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALDOA (select a term)
intoGenALDOA
Cancer3DALDOA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM103850    611881   
Orphanet738   
DisGeNETALDOA
MedgenALDOA
Genetic Testing Registry ALDOA
NextProtP04075 [Medical]
TSGene226
GENETestsALDOA
Target ValidationALDOA
Huge Navigator ALDOA [HugePedia]
snp3D : Map Gene to Disease226
BioCentury BCIQALDOA
ClinGenALDOA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD226
Chemical/Pharm GKB GenePA24707
Clinical trialALDOA
Miscellaneous
canSAR (ICR)ALDOA (select the gene name)
Probes
Litterature
PubMed132 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALDOA
EVEXALDOA
GoPubMedALDOA
iHOPALDOA
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 14:02:44 CET 2017

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