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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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DHRS3
dehydrogenase/reductase 3
Chromosome 1 Β· 1p36.21
NCBI Gene: 9249Ensembl: ENSG00000162496.10HGNC: HGNC:17693UniProt: A0AAQ5BI35
34PubMed Papers
20Diseases
0Drugs
2Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
retinoid metabolic processregulation of retinoic acid receptor signaling pathwaylipid dropletall-trans-retinol dehydrogenase (NAD+) activityglaucomaopen-angle glaucomainherited hemoglobinopathyplacenta praevia
✦AI Summary

DHRS3 (dehydrogenase/reductase 3) is a microsomal, NADPH-dependent enzyme that catalyzes the reduction of all-trans-retinal to all-trans-retinol 1. As a member of the SDR16C family, DHRS3 plays a critical role in maintaining appropriate retinoic acid levels by forming a codependent complex with RDH10 that facilitates negative feedback regulation 2. Beyond retinoid metabolism, DHRS3 metabolizes endogenous compounds including androstenedione and estrone, and biotransforms xenobiotics 1. DHRS3 expression is regulated by p53 and p63 tumor suppressors, suggesting roles in tumor suppression and developmental processes 3. DHRS3 is expressed in liver, testis, and small intestine 1, and localizes to lipid droplets where it regulates melanoma cell state transitions through retinoic acid signaling 4. Biallelic hypomorphic variants in DHRS3 cause a novel developmental syndrome characterized by elevated retinoic acid, coronal craniosynostosis, facial dysmorphism, congenital heart disease, and scoliosis 5. DHRS3 upregulation during osteogenic differentiation is suppressed by miR-223, regulating bone formation 6. Additionally, DHRS3 demonstrates potential in gastric cancer pathogenesis and prognosis through feedback regulation with IRF1 and serves as a biomarker in papillary thyroid cancer 7, 8.

Sources cited
1
DHRS3 catalyzes NADPH-dependent reduction of all-trans-retinal to all-trans-retinol; is a microsomal integral-membrane protein; also metabolizes androstenedione, estrone, and xenobiotics; expressed in liver, testis, and small intestine
PMID: 25451588
2
DHRS3 and RDH10 form a codependent complex regulating the reversible oxidation/reduction of vitamin A to control retinoic acid synthesis through negative feedback
PMID: 28207193
3
DHRS3 transcription is activated by p53 and p63 tumor suppressors through promoter binding; tumor-derived p53 mutants fail to activate DHRS3
PMID: 20543567
4
DHRS3 is a lipid droplet protein upregulated in undifferentiated melanoma cells; increased expression drives melanocytic to undifferentiated/invasive state transition via retinoic acid signaling
PMID: 39479752
5
Biallelic hypomorphic DHRS3 variants cause developmental syndrome with elevated plasma retinoic acid, reduced retinol, coronal craniosynostosis, facial dysmorphism, congenital heart disease, and scoliosis
PMID: 40519748
6
DHRS3 is upregulated during osteogenic differentiation; miR-223 suppresses DHRS3 expression to inhibit osteoblast differentiation; DHRS3 upregulation promotes bone formation markers
PMID: 29794437
7
DHRS3 is upregulated by ATRA in gastric cancer with IRF1-mediated feedback regulation; involved in immune-modulatory effects relevant to cancer therapeutics
PMID: 37951921
8
DHRS3 is identified as a key player in papillary thyroid cancer pathogenesis with promise as a biomarker for predicting patient outcomes
PMID: 40441683
Disease Associationsβ“˜20
glaucomaOpen Targets
0.37Weak
open-angle glaucomaOpen Targets
0.33Weak
inherited hemoglobinopathyOpen Targets
0.31Weak
placenta praeviaOpen Targets
0.27Weak
major salivary gland cancerOpen Targets
0.27Weak
Abruptio PlacentaeOpen Targets
0.14Weak
craniosynostosisOpen Targets
0.12Weak
gastric cancerOpen Targets
0.09Suggestive
neoplasmOpen Targets
0.08Suggestive
primary thrombocytopeniaOpen Targets
0.05Suggestive
Heart defects - limb shorteningOpen Targets
0.03Suggestive
heart defects-limb shortening syndromeOpen Targets
0.03Suggestive
fetal trimethadione syndromeOpen Targets
0.03Suggestive
autosomal recessive omodysplasiaOpen Targets
0.03Suggestive
22q11.2 microduplication syndromeOpen Targets
0.03Suggestive
mosaic trisomy 20Open Targets
0.03Suggestive
anencephaly 2Open Targets
0.03Suggestive
German syndromeOpen Targets
0.03Suggestive
Autosomal dominant multiple pterygium syndromeOpen Targets
0.03Suggestive
contractures, pterygia, and spondylocarpotarsal fusion syndrome 1AOpen Targets
0.03Suggestive
Pathogenic Variants2
NM_004753.7(DHRS3):c.511G>A (p.Val171Met)Pathogenic
DHRS3 Deficiency|Craniosynostosis-scoliosis syndrome
β˜†β˜†β˜†β˜†2026β†’ Residue 171
NC_000001.11:g.12617576_12621501delPathogenic
DHRS3 Deficiency
β˜†β˜†β˜†β˜†2025
View on ClinVar β†—
Related Genes
ALDH1A3Protein interaction97%CYP26A1Protein interaction97%PNPLA4Protein interaction97%ALDH1A2Protein interaction97%DHRS9Protein interaction94%DHRS4Protein interaction94%
Tissue Expression6 tissues
Liver
100%
Heart
19%
Lung
19%
Ovary
11%
Bone Marrow
10%
Brain
4%
Gene Interaction Network
Click a node to explore
DHRS3ALDH1A3CYP26A1PNPLA4ALDH1A2DHRS9DHRS4
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt O75911
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.79LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.51 [0.33–0.79]
RankingsWhere DHRS3 stands among ~20K protein-coding genes
  • #11,142of 20,598
    Most Researched34
  • #4,489of 5,498
    Most Pathogenic Variants2
  • #6,528of 17,882
    Most Constrained (LOEUF)0.79
Genes detectedDHRS3
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Molecular and biochemical characterisation of human short-chain dehydrogenase/reductase member 3 (DHRS3).
PMID: 25451588
Chem Biol Interact Β· 2015
1.00
2
The Lipid Droplet Protein DHRS3 Is a Regulator of Melanoma Cell State.
PMID: 39479752
Pigment Cell Melanoma Res Β· 2025
0.90
3
Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.
PMID: 40519748
Genet Med Open Β· 2025
0.80
4
Anti-tumor activity of all-trans retinoic acid in gastric-cancer: gene-networks and molecular mechanisms.
PMID: 37951921
J Exp Clin Cancer Res Β· 2023
0.70
5
Multi-Omics-Based Characterization of DNA Methylation Episignatures for Papillary Thyroid Cancer in a Chinese Population.
PMID: 40441683
Thyroid Β· 2025
0.60