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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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AKR1C2
aldo-keto reductase family 1 member C2
Chromosome 10 · 10p15.1
NCBI Gene: 1646Ensembl: ENSG00000151632.18HGNC: HGNC:385UniProt: B4DK69
101PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
aldose reductase (NADPH) activityprostaglandin metabolic processG protein-coupled receptor signaling pathwaydigestion46,XY disorder of sex development due to isolated 17,20 lyase deficiency46,XY complete gonadal dysgenesisCIC-rearranged sarcomaAbnormal nasolacrimal system morphology
✦AI Summary

AKR1C2 is a cytosolic NADPH-dependent aldo-keto reductase that catalyzes the reduction of ketosteroids to hydroxysteroids, with broad substrate specificity producing primarily 3α-hydroxysteroids but also 3β-, 17β-, and 20α-hydroxysteroids 1. The enzyme plays critical roles in three major metabolic pathways: (1) Male sex determination via the 'backdoor' androgen synthesis pathway, where it converts 5α-dihydroprogesterone to allopregnanolone, ultimately generating 5α-dihydrotestosterone necessary for testicular differentiation 2; (2) Neurosteroid biosynthesis, reducing precursors to neuroactive steroids like allopregnanolone that modulate GABAergic neurotransmission 3; and (3) Androgen catabolism, inactivating 5α-dihydrotestosterone and progesterone into less active metabolites 2. Clinically, AKR1C2 dysfunction associates with 46,XY sex reversal. In cancer biology, AKR1C2 shows prognostic significance in breast cancer, correlating with favorable outcomes through regulation of intratumoral progesterone metabolism 4. Conversely, AKR1C2 knockdown promotes ferroptosis and inhibits proliferation and migration in lung cancer cells 5, while reduced AKR1C2 expression in prostate cancer promotes androgen retention and tumor progression 2. The enzyme's involvement in ROS elimination and chemotherapy resistance indicates dual roles in malignancy depending on tumor context 1.

Sources cited
1
AKR1C2 catalyzes NADPH/NADH-dependent reduction of carbonyl compounds, regulates steroid hormones, is abnormally expressed in cancers, and affects tumor invasion, migration, ROS elimination, and chemotherapy resistance
PMID: 37498066
2
AKR1C2 reduces 5α-dihydrotestosterone to the less active 3α-diol; reduced AKR1C2 in prostate cancer causes DHT retention and tumor progression; targeting AKR1C2 is a potential therapeutic strategy
PMID: 39292292
3
AKR1C2 expression in fibroblasts and tumor cells correlates with favorable breast cancer characteristics and is an independent prognostic marker; AKR1C1/2 regulate intratumoral progesterone metabolism
PMID: 26573806
4
AKR1C2 knockdown promotes ferroptosis and inhibits proliferation, migration, and invasion in lung cancer cells by increasing ROS, malondialdehyde, and Fe2+ levels
PMID: 40531841
5
AKR1C1-C3 enzymes regulate neurosteroid homeostasis, modulate GABAergic neurotransmission, support synaptic plasticity, and are involved in neuroprotection and neurodevelopmental processes
PMID: 41352453
Disease Associationsⓘ21
46,XY disorder of sex development due to isolated 17,20 lyase deficiencyOpen Targets
0.69Moderate
46,XY complete gonadal dysgenesisOpen Targets
0.48Moderate
CIC-rearranged sarcomaOpen Targets
0.33Weak
Abnormal nasolacrimal system morphologyOpen Targets
0.31Weak
bipolar disorderOpen Targets
0.25Weak
Peyronie diseaseOpen Targets
0.24Weak
neurodegenerative diseaseOpen Targets
0.24Weak
esophageal squamous cell carcinomaOpen Targets
0.08Suggestive
papillary thyroid carcinomaOpen Targets
0.07Suggestive
alcohol drinkingOpen Targets
0.07Suggestive
triple-negative breast cancerOpen Targets
0.07Suggestive
breast cancerOpen Targets
0.07Suggestive
gastric cancerOpen Targets
0.06Suggestive
fasciitisOpen Targets
0.06Suggestive
neoplasmOpen Targets
0.05Suggestive
lung cancerOpen Targets
0.05Suggestive
bronchiectasisOpen Targets
0.05Suggestive
liver cancerOpen Targets
0.05Suggestive
behavioral variant of frontotemporal dementiaOpen Targets
0.04Suggestive
non-small cell lung carcinomaOpen Targets
0.04Suggestive
46,XY sex reversal 8UniProt
Pathogenic Variants4
NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val)Pathogenic
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
☆☆☆☆2011→ Residue 79
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)Pathogenic
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
☆☆☆☆2011→ Residue 90
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr)Pathogenic
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
☆☆☆☆2011→ Residue 300
NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln)Pathogenic
46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
☆☆☆☆2011→ Residue 222
View on ClinVar ↗
Related Genes
SRD5A3Protein interaction96%SRD5A2Protein interaction96%CYP2A6Protein interaction95%UGT2B10Protein interaction92%CYP2A13Protein interaction92%UGT2A3Protein interaction92%
Tissue Expression6 tissues
Liver
100%
Lung
7%
Heart
6%
Ovary
3%
Brain
1%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
AKR1C2SRD5A3SRD5A2CYP2A6UGT2B10CYP2A13UGT2A3
PROTEIN STRUCTURE
Preparing viewer…
PDB4XO6 · 1.20 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.03LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.74 [0.53–1.03]
RankingsWhere AKR1C2 stands among ~20K protein-coding genes
  • #4,708of 20,598
    Most Researched101 · top quartile
  • #3,740of 5,498
    Most Pathogenic Variants4
  • #10,275of 17,882
    Most Constrained (LOEUF)1.03
Genes detectedAKR1C2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
BET inhibitors potentiate melanoma ferroptosis and immunotherapy through AKR1C2 inhibition.
PMID: 38049916
Mil Med Res · 2023
1.00
2
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
PMID: 35685361
Comput Struct Biotechnol J · 2022
0.90
3
Function, drug resistance and prognostic effect of AKR1C2 in human cancer.
PMID: 37498066
Neoplasma · 2023
0.80
4
Stromal markers AKR1C1 and AKR1C2 are prognostic factors in primary human breast cancer.
PMID: 26573806
Int J Clin Oncol · 2016
0.70
5
AKR1C2 silencing promotes ferroptosis and inhibits proliferation, migration, and invasion in lung cancer cells.
PMID: 40531841
PLoS One · 2025
0.60