AKR1E2 Gene
Aldo-Keto Reductase Family 1 Member E2
Gene Information Card
| Symbol | AKR1E2 |
|---|---|
| Full Name | Aldo-Keto Reductase Family 1 Member E2 |
| Gene Type | protein-coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 83592 ncbi.nlm.nih.gov/gene/83592 |
| Ensembl ID | ENSG00000120068 |
| UniProt ID | Q96JD6 |
| OMIM ID | Not available |
| HGNC ID | 381 |
| Aliases | AKR1E2, AKR1E2_HUMAN |
Description
AKR1E2 encodes a member of the aldo-keto reductase superfamily, which catalyzes the NADPH-dependent reduction of carbonyl compounds. The enzyme is involved in detoxification and steroid metabolism. Expression is enriched in liver and kidney.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not applicable | No evidence in ClinVar or OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Kidney | 8.3 | Medium |
| Testis | 4.1 | Low |
| Adrenal gland | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| HEK293 | 6.7 | Embryonic kidney cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | Not applicable | Not applicable | Not applicable |
Mutation functional classification
Loss of Function (LOF)
No data available
Gain of Function (GOF)
No data available
Dominant Negative (DN)
No data available
View complete mutation data：
Gene Ontology (GO)
| • oxidoreductase activity (GO:0016491) | • NADP binding (GO:0050661) |
| • aldo-keto reductase (NADPH) activity (GO:0004033) |
Pathways
• Metabolism of xenobiotics by cytochrome P450 (Reactome: R-HSA-211945)
Protein Summary
AKR1E2 is a 323-amino acid protein (36 kDa) belonging to the aldo-keto reductase family. It uses NADPH as a cofactor to reduce aldehydes and ketones to primary and secondary alcohols. The protein is localized in the cytoplasm and is expressed in liver and kidney tissues.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKR1E2 Knockout HEK293 Cell Line | EDJ-KQ9863 | Human | 83592 | Details Get a Quote |
| AKR1E2 Knockout A-549 Cell Line | EDJ-KQ36730 | Human | 83592 | Details Get a Quote |
| AKR1E2 Knockout HCT 116 Cell Line | EDJ-KQ36731 | Human | 83592 | Details Get a Quote |
| AKR1E2 Knockout HeLa Cell Line | EDJ-KQ57453 | Human | 83592 | Details Get a Quote |
Displaying Records 1 To 4 Of 4 Records
