Gene Gene information from NCBI Gene database.
Entrez ID 226
Gene name Aldolase, fructose-bisphosphate A
Gene symbol ALDOA
Synonyms (NCBI Gene)
ALDAGSD12HEL-S-87p
Chromosome 16
Chromosome location 16p11.2
Summary This gene encodes a member of the class I fructose-bisphosphate aldolase protein family. The encoded protein is a glycolytic enzyme that catalyzes the reversible conversion of fructose-1,6-bisphosphate to glyceraldehyde 3-phosphate and dihydroxyacetone ph
miRNA miRNA information provided by mirtarbase database.
557
miRTarBase ID miRNA Experiments Reference
MIRT003085 hsa-miR-122-5p Luciferase reporter assayqRT-PCR 19296470
MIRT003085 hsa-miR-122-5p Northern blot 18073344
MIRT046363 hsa-miR-23b-3p CLASH 23622248
MIRT043086 hsa-miR-324-5p CLASH 23622248
MIRT042956 hsa-miR-324-3p CLASH 23622248
Transcription factors Transcription factors information provided by TRRUST V2 database.
2
Transcription factor Regulation Reference
HIF1A Activation 8955077
ZNF224 Repression 17900823
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
46
GO ID Ontology Definition Evidence Reference
GO:0003723 Function RNA binding HDA 22681889
GO:0003779 Function Actin binding TAS 1008835
GO:0004332 Function Fructose-bisphosphate aldolase activity IBA
GO:0004332 Function Fructose-bisphosphate aldolase activity IDA 9244396, 14766013
GO:0004332 Function Fructose-bisphosphate aldolase activity IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
103850 414 ENSG00000149925
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P04075
Protein name Fructose-bisphosphate aldolase A (EC 4.1.2.13) (Lung cancer antigen NY-LU-1) (Muscle-type aldolase)
Protein function Catalyzes the reversible conversion of beta-D-fructose 1,6-bisphosphate (FBP) into two triose phosphate and plays a key role in glycolysis and gluconeogenesis (PubMed:14766013). In addition, may also function as scaffolding protein (By similarit
PDB 1ALD , 2ALD , 4ALD , 5KY6 , 6XMH , 6XML , 6XMM , 6XMO
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00274 Glycolytic 15 364 Fructose-bisphosphate aldolase class-I Domain
Sequence
Sequence length 364
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Pentose phosphate pathway
Fructose and mannose metabolism
Metabolic pathways
Carbon metabolism
Biosynthesis of amino acids
HIF-1 signaling pathway
  Platelet degranulation
Neutrophil degranulation
Glycolysis
Gluconeogenesis
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
15
Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession Evidence Score
HNSHA due to aldolase A deficiency Likely pathogenic; Pathogenic rs2151019809, rs2151019295, rs773601711, rs762619360, rs892947296, rs1340894214, rs121909533, rs121909534 RCV001730019
RCV001730028
RCV002972689
RCV003634528
RCV003816497
View all (3 more)
★★★★★
ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Phenotype Name Clinical Significance Source Evidence Score
Acute myeloid leukemia Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ALDOA-related disorder Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; Benign ClinVar
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CATARACT GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations