AKR7A2
Aldo-keto reductase family 7 member A2
Gene Information Card
| Symbol | AKR7A2 |
|---|---|
| Full Name | Aldo-keto reductase family 7 member A2 |
| Gene Type | protein-coding |
| Chromosomal Location | 1p36.13 |
| NCBI Gene ID | 8574 ncbi.nlm.nih.gov/gene/8574 |
| Ensembl ID | ENSG00000117525 |
| UniProt ID | O43488 |
| OMIM ID | 603758 |
| HGNC ID | 388 |
| Aliases | AFAR, AFB1-AR, AKR7, AFAR1 |
Description
AKR7A2 encodes a member of the aldo-keto reductase superfamily. The enzyme catalyzes the NADPH-dependent reduction of aflatoxin B1 dialdehyde and other aldehydes, playing a key role in detoxification and protection against oxidative stress.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Aflatoxin B1 toxicity | Detoxification of aflatoxin B1 dialdehyde reduces hepatocarcinogenicity | PMID: 10493836 |
| Hepatocellular carcinoma | Polymorphisms in AKR7A2 may influence susceptibility to aflatoxin-induced liver cancer | PMID: 14559847 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Small intestine | 6.1 | Low |
| Colon | 5.4 | Low |
| Adrenal gland | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.0 | Hepatocellular carcinoma cell line |
| HEK293 | 9.8 | Embryonic kidney cells |
| Caco-2 | 7.2 | Colorectal adenocarcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Start codon loss, predicted loss of function |
| c.445C>T | Missense | <0.01% | p.Arg149Trp, reduced enzyme activity |
Mutation functional classification
Loss of Function (LOF)
Missense variants such as p.Arg149Trp reduce catalytic activity toward aflatoxin B1 dialdehyde.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • GO:0004032 - aldehyde reductase (NADPH) activity | • GO:0016491 - oxidoreductase activity |
| • GO:0055114 - oxidation-reduction process | • GO:0005829 - cytosol |
| • GO:0005737 - cytoplasm |
Pathways
• Aflatoxin B1 metabolism
• Aldo-keto reductase detoxification pathway
Protein Summary
The AKR7A2 protein (UniProt O43488) is a 359-amino acid monomeric enzyme that uses NADPH to reduce a variety of aldehydes, including aflatoxin B1 dialdehyde, thereby protecting cells from toxic carbonyl compounds. It is predominantly expressed in liver and kidney.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKR7A2 Knockout HEK293 Cell Line | EDJ-KQ5600 | Human | 8574 | Details Get a Quote |
| AKR7A2 Knockout A-549 Cell Line | EDJ-KQ30195 | Human | 8574 | Details Get a Quote |
| AKR7A2 Knockout HCT 116 Cell Line | EDJ-KQ30196 | Human | 8574 | Details Get a Quote |
| AKR7A2 Knockout HeLa Cell Line | EDJ-KQ30197 | Human | 8574 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
