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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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DHRS4
dehydrogenase/reductase 4
Chromosome 14 · 14q11.2
NCBI Gene: 10901Ensembl: ENSG00000157326.19HGNC: HGNC:16985UniProt: F5GWZ1
55PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
peroxisomal membrane3-beta-hydroxysteroid 3-dehydrogenase (NADP+) activitypositive regulation of reactive oxygen species metabolic processperoxisomeSjogren syndromeneoplasmgliomaMiyoshi myopathy
✦AI Summary

DHRS4 (dehydrogenase/reductase 4) is an NADPH-dependent oxidoreductase enzyme that catalyzes the reduction of carbonyl-containing compounds including ketosteroids, alpha-dicarbonyl compounds, aldehydes, and quinones 1. The enzyme participates in retinoid metabolism, 3-beta-hydroxysteroid metabolism, and detoxification of xenobiotic carbonyl compounds such as benzil 2. DHRS4 shares catalytic mechanisms with its paralog DHRS2, though substrate-binding sequences differ substantially, resulting in different substrate specificities between the two enzymes 3. DHRS4 is part of a gene cluster on chromosome 14.2 that includes paralogous genes DHRS4L1 and DHRS4L2, generated through mammalian gene duplication 4. The cluster is subject to complex transcriptional regulation involving alternative splicing, alternative transcription start sites, and epigenetic mechanisms; notably, the natural antisense transcript AS1DHRS4 regulates expression of all three cluster members through histone modifications and DNA methylation 5. Clinically, DHRS4 dysregulation has been implicated in neurodegeneration. In amyotrophic lateral sclerosis models, DHRS4 upregulation correlates with disease progression and may activate complement cascade-related immune responses contributing to neurodegeneration 6. Additionally, the DHRS4-AS1 antisense transcript suppresses osteosarcoma cell proliferation and may regulate inflammation in ulcerative colitis through competitive endogenous RNA mechanisms 78.

Sources cited
1
DHRS4 encodes NADP(H)-dependent retinol dehydrogenase/reductase and is part of a gene cluster; antisense transcription regulates its expression
PMID: 20525226
2
DHRS4 participates in retinoid metabolism; shows alternative transcription initiation and splicing variants; expression regulated by CpG island methylation
PMID: 18754758
3
DHRS4 is an NADP-dependent short-chain carbonyl-reductase with different substrate specificity from its paralog DHRS2; divergent evolution drove substrate specificity differences
PMID: 23036705
4
DHRS4 gene cluster expanded during mammalian evolution; CpG island methylation development modulates expression of the duplicated gene copies
PMID: 27323117
5
AS1DHRS4 antisense RNA silences the DHRS4 gene cluster through histone modifications, histone methyltransferase recruitment, and DNA methylation
PMID: 22891334
6
DHRS4 expression is upregulated in ALS spinal cord with disease progression and may activate complement cascade, contributing to neurodegeneration
PMID: 35479082
7
DHRS4-AS1 suppresses osteosarcoma cell proliferation and promotes apoptosis through competitive endogenous RNA mechanism
PMID: 39843945
8
DHRS4-AS1 mitigates inflammatory injury in ulcerative colitis via miR-206/A3AR axis regulation
PMID: 39528760
Disease Associationsⓘ20
Sjogren syndromeOpen Targets
0.11Weak
neoplasmOpen Targets
0.08Suggestive
gliomaOpen Targets
0.08Suggestive
Miyoshi myopathyOpen Targets
0.08Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
gastric cancerOpen Targets
0.08Suggestive
breast cancerOpen Targets
0.08Suggestive
non-small cell lung carcinomaOpen Targets
0.08Suggestive
nonpapillary renal cell carcinomaOpen Targets
0.08Suggestive
osteosarcomaOpen Targets
0.08Suggestive
amyotrophic lateral sclerosisOpen Targets
0.06Suggestive
congenital rubellaOpen Targets
0.04Suggestive
colorectal carcinomaOpen Targets
0.04Suggestive
immune deficiency, familial variableOpen Targets
0.04Suggestive
acute myeloid leukemiaOpen Targets
0.04Suggestive
hyper-IgM syndrome type 3Open Targets
0.04Suggestive
Alzheimer diseaseOpen Targets
0.04Suggestive
thyroid cancerOpen Targets
0.03Suggestive
MHC class II deficiency 5Open Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
ACOX1Protein interaction100%AVPProtein interaction96%ALDH1A1Protein interaction94%ALDH1A3Protein interaction94%AOX1Protein interaction94%CYP26A1Protein interaction94%
Tissue Expression6 tissues
Liver
100%
Lung
30%
Ovary
29%
Heart
16%
Brain
13%
Bone Marrow
9%
Gene Interaction Network
Click a node to explore
DHRS4ACOX1AVPALDH1A1ALDH1A3AOX1CYP26A1
PROTEIN STRUCTURE
Preparing viewer…
PDB3O4R · 1.70 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
1.04LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.72 [0.50–1.04]
RankingsWhere DHRS4 stands among ~20K protein-coding genes
  • #8,188of 20,598
    Most Researched55
  • #10,398of 17,882
    Most Constrained (LOEUF)1.04
Genes detectedDHRS4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Bioinformatic analysis of the human DHRS4 gene cluster and a proposed mechanism for its transcriptional regulation.
PMID: 20525226
BMC Mol Biol · 2010
1.00
2
Molecular and functional evolution of human DHRS2 and DHRS4 duplicated genes.
PMID: 23036705
Gene · 2012
0.90
3
Identification of Molecular Correlations Between DHRS4 and Progressive Neurodegeneration in Amyotrophic Lateral Sclerosis By Gene Co-Expression Network Analysis.
PMID: 35479082
Front Immunol · 2022
0.80
4
CpG island evolution in the mammalian DHRS4 gene cluster and its role in the regulation of gene transcription.
PMID: 27323117
Genet Mol Res · 2016
0.70
5
METTL14 regulates inflammation in ulcerative colitis via the lncRNA DHRS4-AS1/miR-206/A3AR axis.
PMID: 39528760
Cell Biol Toxicol · 2024
0.60