Gene Gene information from NCBI Gene database.
Entrez ID 8574
Gene name Aldo-keto reductase family 7 member A2
Gene symbol AKR7A2
Synonyms (NCBI Gene)
AFARAFAR1AFB1-AR1AKR7
Chromosome 1
Chromosome location 1p36.13
Summary The protein encoded by this gene belongs to the aldo/keto reductase (AKR) superfamily and AKR7 family, which are involved in the detoxification of aldehydes and ketones. The AKR7 family consists of 3 genes that are present in a cluster on the p arm of chr
miRNA miRNA information provided by mirtarbase database.
347
miRTarBase ID miRNA Experiments Reference
MIRT020602 hsa-miR-155-5p Proteomics 18668040
MIRT025267 hsa-miR-34a-5p Proteomics 21566225
MIRT025267 hsa-miR-34a-5p Proteomics 21566225
MIRT025267 hsa-miR-34a-5p Proteomics 21566225
MIRT025267 hsa-miR-34a-5p Proteomics 21566225
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
20
GO ID Ontology Definition Evidence Reference
GO:0004032 Function Aldose reductase (NADPH) activity TAS 9576847
GO:0005515 Function Protein binding IPI 16189514, 28514442, 28536627, 31515488, 32296183, 32814053, 33961781
GO:0005737 Component Cytoplasm IBA
GO:0005737 Component Cytoplasm IEA
GO:0005739 Component Mitochondrion HTP 34800366
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
603418 389 ENSG00000053371
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
O43488
Protein name Aflatoxin B1 aldehyde reductase member 2 (EC 1.1.1.n11) (AFB1 aldehyde reductase 1) (AFB1-AR 1) (Aldoketoreductase 7) (Succinic semialdehyde reductase) (SSA reductase)
Protein function Catalyzes the NADPH-dependent reduction of succinic semialdehyde to gamma-hydroxybutyrate. May have an important role in producing the neuromodulator gamma-hydroxybutyrate (GHB). Has broad substrate specificity. Has NADPH-dependent aldehyde redu
PDB 2BP1
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00248 Aldo_ket_red 41 348 Aldo/keto reductase family Domain
Tissue specificity TISSUE SPECIFICITY: Detected in brain, liver, small intestine and testis, and at lower levels in heart, prostate, skeletal muscle and spleen. Detected in kidney proximal and distal tubules, endothelial cells lining the Bowman's capsules and some cysts. De
Sequence
Sequence length 359
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Metabolism of xenobiotics by cytochrome P450   Aflatoxin activation and detoxification
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
Cardiotoxicity Associate 24562808
★☆☆☆☆
Found in Text Mining only
Down Syndrome Associate 24562808, 25962911
★☆☆☆☆
Found in Text Mining only
Glioblastoma Associate 38150033
★☆☆☆☆
Found in Text Mining only
Glioma Associate 38150033
★☆☆☆☆
Found in Text Mining only
Lymphoma Follicular Associate 38150033
★☆☆☆☆
Found in Text Mining only