Gene Gene information from NCBI Gene database.
Entrez ID 224
Gene name Aldehyde dehydrogenase 3 family member A2
Gene symbol ALDH3A2
Synonyms (NCBI Gene)
ALDH10FALDHSLS
Chromosome 17
Chromosome location 17p11.2
Summary Aldehyde dehydrogenase isozymes are thought to play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. This gene product catalyzes the oxidation of long-chain aliphatic aldehydes to fatty acid. Mutation
SNPs SNP information provided by dbSNP.
26
SNP ID Visualize variation Clinical significance Consequence
rs72547556 T>A Pathogenic 5 prime UTR variant, coding sequence variant, genic upstream transcript variant, upstream transcript variant, missense variant
rs72547561 C>G,T Pathogenic Stop gained, 5 prime UTR variant, missense variant, coding sequence variant
rs72547562 C>T Pathogenic 5 prime UTR variant, missense variant, coding sequence variant
rs72547568 G>A Pathogenic-likely-pathogenic Missense variant, coding sequence variant
rs72547569 G>C Likely-pathogenic Missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
593
miRTarBase ID miRNA Experiments Reference
MIRT020947 hsa-miR-155-5p Proteomics 18668040
MIRT025933 hsa-miR-7-5p Microarray 19073608
MIRT041373 hsa-miR-193b-3p CLASH 23622248
MIRT777143 hsa-miR-101 CLIP-seq
MIRT777144 hsa-miR-106a CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
34
GO ID Ontology Definition Evidence Reference
GO:0004028 Function 3-chloroallyl aldehyde dehydrogenase activity IBA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IDA 9133646
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IEA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IMP 8528251, 15110319
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
609523 403 ENSG00000072210
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P51648
Protein name Aldehyde dehydrogenase family 3 member A2 (EC 1.2.1.3) (EC 1.2.1.94) (Aldehyde dehydrogenase 10) (Fatty aldehyde dehydrogenase) (Microsomal aldehyde dehydrogenase)
Protein function Catalyzes the oxidation of medium and long chain aliphatic aldehydes to fatty acids. Active on a variety of saturated and unsaturated aliphatic aldehydes between 6 and 24 carbons in length (PubMed:18035827, PubMed:18182499, PubMed:22633490, PubM
PDB 4QGK
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00171 Aldedh 2 424 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: Detected in liver (at protein level). {ECO:0000269|PubMed:9133646}.
Sequence
Sequence length 485
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Glycolysis / Gluconeogenesis
Ascorbate and aldarate metabolism
Fatty acid degradation
Valine, leucine and isoleucine degradation
Lysine degradation
Arginine and proline metabolism
Histidine metabolism
Tryptophan metabolism
beta-Alanine metabolism
Glycerolipid metabolism
Pyruvate metabolism
Pantothenate and CoA biosynthesis
Metabolic pathways
Biosynthesis of cofactors
Alcoholic liver disease
  Sphingolipid de novo biosynthesis
Alpha-oxidation of phytanate
Class I peroxisomal membrane protein import
Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
274
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
ALDH3A2-related disorder Likely pathogenic rs2544371571 RCV003408608
Cerebral palsy Pathogenic rs730880264 RCV001794427
Familial cancer of breast Pathogenic rs769821628 RCV005909231
Malignant tumor of esophagus Pathogenic rs786204741 RCV005867982
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
- no classification for the single variant rs2544383836, rs2544383891 -
Cervical cancer Benign rs76113935, rs11204407 RCV005915810
RCV005925327
Gastric cancer Benign; Conflicting classifications of pathogenicity; Likely benign rs76113935, rs148944691, rs144190241 RCV005915811
RCV005892057
RCV005903212
Hepatocellular carcinoma Likely benign rs144190241 RCV005903211
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Alzheimer Disease Associate 37162726
Bowen's Disease Associate 36085041
Carcinoma Ovarian Epithelial Associate 34839022
Carcinoma Squamous Cell Associate 36085041
Cerebral Palsy Associate 23034980
Diabetes Mellitus Associate 18035827
Ichthyosis Associate 20049467, 30372562
Intellectual Disability Associate 30372562
Intracranial Aneurysm Associate 36451838
Learning Disabilities Associate 23034980