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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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DIO3
iodothyronine deiodinase 3
Chromosome 14 · 14q32.31
NCBI Gene: 1735Ensembl: ENSG00000197406.8HGNC: HGNC:2885UniProt: P55073
67PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
thyroid hormone metabolic processthyroxine 5-deiodinase activitythyroid hormone catabolic processthyroxine 5'-deiodinase activityAbnormality of the skeletal systematrial fibrillationneurodegenerative diseasenervous system cancer
✦AI Summary

DIO3 (iodothyronine deiodinase 3) is a selenoprotein 1 that catalyzes the inactivation of thyroid hormones through inner-ring deiodination, converting T4 to reverse T3 and T3 to 3,3'-T2, among other substrates 2345. The enzyme also performs outer-ring deiodination and acts on iodothyronamines 56. DIO3 is paternally expressed within the imprinted Dlk1-Dio3 cluster on chromosome 14, a domain critical for development and postnatal metabolism 78. Dysregulation of this imprinted region causes Temple syndrome (maternal UPD14) or Kagami-Ogata syndrome (paternal UPD14) 7. Expression is controlled by a bipartite imprinting control region, with selective loss of imprinting in the neurogenic niche 9. DIO3 functions as a developmental timer: high expression in retinal progenitor cells suppresses thyroid hormone signaling, while progressive downregulation during differentiation increases signaling to specify photoreceptor subtypes 10. In skeletal muscle during sepsis, DIO3-mediated thyroid hormone inactivation impairs mitophagy and anabolic processes; Dio3 knockdown preserves muscle mass via NAD salvage pathway activation 11. Dio3os lncRNA regulates neighboring Dio3 expression and impacts osteogenesis, with aberrant Dio3 expression causing consumptive hypothyroidism and skeletal developmental abnormalities 12.

Sources cited
1
DIO3 (iodothyronine deiodinase 3) is a selenoprotein that catalyzes the inactivation of thyroid hormones through inner-ring deiodination, converting T4 to reverse T3 and T3 to 3,3'-T2, among other substrates , , , .
PMID: 27645994
2
DIO3 is paternally expressed within the imprinted Dlk1-Dio3 cluster on chromosome 14, a domain critical for development and postnatal metabolism , .
PMID: 32592473
3
Expression is controlled by a bipartite imprinting control region, with selective loss of imprinting in the neurogenic niche .
PMID: 38155837
4
DIO3 functions as a developmental timer: high expression in retinal progenitor cells suppresses thyroid hormone signaling, while progressive downregulation during differentiation increases signaling to specify photoreceptor subtypes .
PMID: 41102017
5
In skeletal muscle during sepsis, DIO3-mediated thyroid hormone inactivation impairs mitophagy and anabolic processes; Dio3 knockdown preserves muscle mass via NAD salvage pathway activation .
PMID: 40628122
6
Dio3os lncRNA regulates neighboring Dio3 expression and impacts osteogenesis, with aberrant Dio3 expression causing consumptive hypothyroidism and skeletal developmental abnormalities .
PMID: 40321213
Disease Associationsⓘ20
Abnormality of the skeletal systemOpen Targets
0.46Moderate
atrial fibrillationOpen Targets
0.38Weak
neurodegenerative diseaseOpen Targets
0.36Weak
brain cancerOpen Targets
0.28Weak
nervous system cancerOpen Targets
0.28Weak
smoking initiationOpen Targets
0.22Weak
alcohol drinkingOpen Targets
0.21Weak
idiopathic pulmonary fibrosisOpen Targets
0.19Weak
androgenetic alopeciaOpen Targets
0.19Weak
drug allergyOpen Targets
0.19Weak
glomerulonephritisOpen Targets
0.19Weak
humerus fractureOpen Targets
0.19Weak
bone remodeling diseaseOpen Targets
0.16Weak
ankylosing spondylitisOpen Targets
0.14Weak
neoplasmOpen Targets
0.08Suggestive
ulcerative colitisOpen Targets
0.06Suggestive
Genu valgumOpen Targets
0.05Suggestive
psoriatic arthritisOpen Targets
0.05Suggestive
myocardial infarctionOpen Targets
0.05Suggestive
papillary thyroid carcinomaOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
DLK1Protein interaction92%RTL1Protein interaction92%TRHProtein interaction83%SLC16A2Protein interaction79%SLCO1C1Protein interaction70%IYDShared pathway50%
Tissue Expression6 tissues
Ovary
100%
Lung
11%
Liver
3%
Brain
1%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
DIO3DLK1RTL1TRHSLC16A2SLCO1C1IYD
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P55073
View on AlphaFold ↗
RankingsWhere DIO3 stands among ~20K protein-coding genes
  • #6,975of 20,598
    Most Researched67
Genes detectedDIO3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Temple syndrome and Kagami-Ogata syndrome: clinical presentations, genotypes, models and mechanisms.
PMID: 32592473
Hum Mol Genet · 2020
1.00
2
Epigenetic control and genomic imprinting dynamics of the Dlk1-Dio3 domain.
PMID: 38155837
Front Cell Dev Biol · 2023
0.90
3
Targeting Dio3 to enhance mitophagy and ameliorate skeletal muscle wasting in sepsis.
PMID: 40628122
Redox Biol · 2025
0.80
4
Epigenetic Contribution and Genomic Imprinting Dlk1-Dio3 miRNAs in Systemic Lupus Erythematosus.
PMID: 34062726
Genes (Basel) · 2021
0.70
5
Selenoprotein Gene Nomenclature.
PMID: 27645994
J Biol Chem · 2016
0.60