Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
224
Gene name Gene Name - the full gene name approved by the HGNC.
Aldehyde dehydrogenase 3 family member A2
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
ALDH3A2
Synonyms (NCBI Gene) Gene synonyms aliases
ALDH10, FALDH, SLS
Chromosome Chromosome number
17
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
17p11.2
Summary Summary of gene provided in NCBI Entrez Gene.
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.
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.
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 information of associated ontologies with gene provided by GO database.
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 ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
609523 403 ENSG00000072210
Protein
UniProt ID 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
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
Cerebral palsy cerebral palsy rs730880264 N/A
Associations from Text Mining Disease 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