AKR1C2: Aldo-Keto Reductase Family 1 Member C2
A key enzyme in steroid hormone metabolism and bile acid synthesis
Gene Information Card
| Symbol | AKR1C2 |
|---|---|
| Full Name | Aldo-Keto Reductase Family 1 Member C2 |
| Gene Type | Protein coding |
| Chromosomal Location | 10p15.1 |
| NCBI Gene ID | 1646 ncbi.nlm.nih.gov/gene/1646 |
| Ensembl ID | ENSG00000151632 |
| UniProt ID | P52895 |
| OMIM ID | 600450 |
| HGNC ID | 385 |
| Aliases | DD2, HAKRD, MGC138290, MGC141983, AKR1C-pseudo |
Description
The AKR1C2 gene encodes a member of the aldo-keto reductase superfamily. This enzyme catalyzes the reduction of steroid hormones, such as dihydrotestosterone and progesterone, and is involved in bile acid synthesis. It plays a role in the metabolism of xenobiotics and endogenous substrates, and its dysregulation is associated with hormone-dependent cancers and other disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Prostate cancer | Altered androgen metabolism; increased AKR1C2 expression may reduce dihydrotestosterone levels | PMID: 14559847 |
| Endometriosis | Dysregulation of progesterone metabolism; reduced AKR1C2 activity linked to progesterone resistance | PMID: 20685820 |
| Bile acid synthesis defect | Deficiency in AKR1C2 can impair bile acid production, leading to cholestasis | OMIM: 600450 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Liver | 12.5 | Medium |
| Prostate | 8.3 | Medium |
| Adrenal gland | 6.7 | Low |
| Kidney | 5.1 | Low |
| Small intestine | 4.2 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HepG2 | 15.2 | Hepatocellular carcinoma cell line |
| LNCaP | 9.8 | Prostate cancer cell line |
| MCF-7 | 7.4 | Breast cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G | Missense | <0.01% | Reduced enzyme activity |
| c.94C>T | Nonsense | <0.01% | Loss of function |
| c.538G>A | Missense | 0.02% | Altered substrate specificity |
Mutation functional classification
Loss of Function (LOF)
c.94C>T introduces a premature stop codon, leading to truncated protein and loss of enzymatic activity.
Gain of Function (GOF)
No gain-of-function mutations reported in AKR1C2.
Dominant Negative (DN)
No dominant-negative mutations reported in AKR1C2.
View complete mutation data：
Gene Ontology (GO)
| • Aldo-keto reductase (NADP) activity | • Steroid dehydrogenase activity |
| • Oxidoreductase activity | • Bile acid binding |
| • Cytoplasm |
Pathways
• Steroid hormone biosynthesis
• Bile acid biosynthesis
• Androgen and estrogen metabolism
Protein Summary
The AKR1C2 protein is a 323-amino acid monomeric enzyme that uses NADPH as a cofactor to reduce carbonyl groups. It is primarily cytosolic and highly expressed in the liver and prostate. The enzyme converts dihydrotestosterone to 5α-androstane-3α,17β-diol, and progesterone to 20α-hydroxyprogesterone, thereby modulating steroid hormone activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| AKR1C2 Knockout HEK293 Cell Line | EDJ-KQ4431 | Human | 1646 | Details Get a Quote |
| AKR1C2 Knockout A-549 Cell Line | EDJ-KQ26974 | Human | 1646 | Details Get a Quote |
| AKR1C2 Knockout HCT 116 Cell Line | EDJ-KQ26975 | Human | 1646 | Details Get a Quote |
| AKR1C2 Knockout HeLa Cell Line | EDJ-KQ26976 | Human | 1646 | Details Get a Quote |
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