Gene Gene information from NCBI Gene database.
Entrez ID 222
Gene name Aldehyde dehydrogenase 3 family member B2
Gene symbol ALDH3B2
Synonyms (NCBI Gene)
ALDH8
Chromosome 11
Chromosome location 11q13.2
Summary This gene encodes a member of the aldehyde dehydrogenase family, a group of isozymes that may play a major role in the detoxification of aldehydes generated by alcohol metabolism and lipid peroxidation. The gene of this particular family member is over 10
miRNA miRNA information provided by mirtarbase database.
383
miRTarBase ID miRNA Experiments Reference
MIRT019455 hsa-miR-148b-3p Microarray 17612493
MIRT022852 hsa-miR-124-3p Proteomics;Microarray 18668037
MIRT025818 hsa-miR-7-5p Microarray 17612493
MIRT777317 hsa-miR-1915 CLIP-seq
MIRT777318 hsa-miR-3165 CLIP-seq
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
21
GO ID Ontology Definition Evidence Reference
GO:0004028 Function 3-chloroallyl aldehyde dehydrogenase activity IBA
GO:0004028 Function 3-chloroallyl aldehyde dehydrogenase activity TAS 8890755
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IBA
GO:0004029 Function Aldehyde dehydrogenase (NAD+) activity IEA
GO:0004030 Function Aldehyde dehydrogenase [NAD(P)+] activity EXP 25286108
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
601917 411 ENSG00000132746
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
P48448
Protein name Aldehyde dehydrogenase family 3 member B2 (ALDH3B2) (EC 1.2.1.3) (Aldehyde dehydrogenase 8) (Long-chain fatty aldehyde dehydrogenase) (EC 1.2.1.48)
Protein function Oxidizes medium and long chain fatty aldehydes in lipid droplets into non-toxic fatty acids.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00171 Aldedh 3 347 Aldehyde dehydrogenase family Family
Tissue specificity TISSUE SPECIFICITY: Salivary gland (PubMed:8890755). Expressed at protein level in placenta (PubMed:31847104). {ECO:0000269|PubMed:31847104, ECO:0000269|PubMed:8890755}.
Sequence
Sequence length 385
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG 
  Glycolysis / Gluconeogenesis
Histidine metabolism
Tyrosine metabolism
Phenylalanine metabolism
beta-Alanine metabolism
Metabolism of xenobiotics by cytochrome P450
Drug metabolism - cytochrome P450
Metabolic pathways
 
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
2
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)
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
AUTISM SPECTRUM DISORDER CTD
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
AUTISM SPECTRUM DISORDERS Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References Evidence Score
Breast Neoplasms Associate 30575323
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Stimulate 31545416
★☆☆☆☆
Found in Text Mining only
Carcinoma Renal Cell Associate 33221754
★☆☆☆☆
Found in Text Mining only
Cholangiocarcinoma Associate 34907179
★☆☆☆☆
Found in Text Mining only
Klatskin Tumor Associate 34907179
★☆☆☆☆
Found in Text Mining only
Nasopharyngeal Carcinoma Associate 34680942
★☆☆☆☆
Found in Text Mining only
Neoplasm Metastasis Associate 30575323, 34907179
★☆☆☆☆
Found in Text Mining only
Neoplasms Stimulate 34907179
★☆☆☆☆
Found in Text Mining only