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GeneE
26 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
TPO
thyroid peroxidase
Chromosome 2 Β· 2p25.3
NCBI Gene: 7173Ensembl: ENSG00000115705.23HGNC: HGNC:12015UniProt: P07202
184PubMed Papers
21Diseases
3Drugs
121Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
FDA Approved TargetOMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
GO:0005615embryonic hemopoiesisperoxidase activityplasma membranefamilial thyroid dyshormonogenesishypothyroidismhyperthyroidismthyroid disease
✦AI Summary

TPO (thyroid peroxidase) is an enzyme essential for thyroid hormone biosynthesis, catalyzing the iodination and coupling of tyrosine residues in thyroglobulin to produce thyroid hormones T3 and T4. The enzyme functions through peroxidase activity at the plasma membrane, facilitating the oxidative processes required for thyroid hormone synthesis 1. TPO serves as a major thyroid autoantigen, with anti-TPO autoantibodies being the most sensitive diagnostic marker for chr2 thyroiditis, present in 85-90% of patients with autoimmune thyroid disease 2. The detection of anti-TPO antibodies is crucial for diagnosing autoimmune thyroid diseases and monitoring treatment efficacy 3. TPO gene mutations are the most commonly reported pathogenic variants in congenital hypothyroidism caused by thyroid hormone synthesis disorders 1. Functional studies demonstrate that TPO mutations can cause developmental defects and disrupt thyroid axis gene expression, affecting multiple components of thyroid hormone regulation including thyroglobulin, deiodinases, thyroid hormone receptors, and TSH signaling 1. The clinical significance of TPO extends beyond thyroid function, as anti-TPO antibody testing has been developed into point-of-care diagnostic tools with sensitivity and specificity comparable to conventional ELISA methods 3.

Sources cited
1
TPO gene mutations are most common in congenital hypothyroidism from synthesis disorders; mutations cause developmental defects and disrupt thyroid gene expression
PMID: 40223682
2
Anti-TPO antibodies are most sensitive marker for chronic thyroiditis, present in 85-90% of patients
PMID: 9594622
3
Anti-TPO antibodies are important for diagnosing autoimmune thyroid diseases and point-of-care tests have been developed
PMID: 11712692
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜21
familial thyroid dyshormonogenesisOpen Targets
0.67Moderate
hypothyroidismOpen Targets
0.59Moderate
hyperthyroidismOpen Targets
0.57Moderate
thyroid diseaseOpen Targets
0.55Moderate
Abnormality of the thyroid glandOpen Targets
0.53Moderate
congenital hypothyroidismOpen Targets
0.45Moderate
myxedemaOpen Targets
0.44Moderate
autoimmune thyroid diseaseOpen Targets
0.44Moderate
autoimmune diseaseOpen Targets
0.44Moderate
nontoxic goiterOpen Targets
0.44Moderate
multinodular goiterOpen Targets
0.42Moderate
Hashimoto's thyroiditisOpen Targets
0.36Weak
Neurodevelopmental disorderOpen Targets
0.34Weak
Graves ophthalmopathyOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.32Weak
injuryOpen Targets
0.31Weak
Abruptio PlacentaeOpen Targets
0.31Weak
Graves diseaseOpen Targets
0.29Weak
Delayed gross motor developmentOpen Targets
0.27Weak
Global developmental delayOpen Targets
0.27Weak
Thyroid dyshormonogenesis 2AUniProt
Pathogenic Variants121
NM_001206744.2(TPO):c.1357T>G (p.Tyr453Asp)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β˜…β˜…β˜†β˜†2025β†’ Residue 453
NM_001206744.2(TPO):c.1978C>G (p.Gln660Glu)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β˜…β˜…β˜†β˜†2025β†’ Residue 660
NM_001206744.2(TPO):c.1993C>T (p.Arg665Trp)Pathogenic
not provided|TPO-related disorder|Deficiency of iodide peroxidase
β˜…β˜…β˜†β˜†2025β†’ Residue 665
NM_001206744.2(TPO):c.1184_1187dup (p.Ala397fs)Pathogenic
Deficiency of iodide peroxidase|not provided|TPO-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 397
NM_001206744.2(TPO):c.1786G>T (p.Glu596Ter)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β˜…β˜…β˜†β˜†2025β†’ Residue 596
NM_001206744.2(TPO):c.2268dup (p.Glu757Ter)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β˜…β˜…β˜†β˜†2025β†’ Residue 757
NM_001206744.2(TPO):c.2422del (p.Cys808fs)Pathogenic
Deficiency of iodide peroxidase|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 808
NM_001206744.2(TPO):c.1618C>T (p.Arg540Ter)Pathogenic
Deficiency of iodide peroxidase|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 540
NM_001206744.2(TPO):c.31_50dup (p.Glu17fs)Pathogenic
Deficiency of iodide peroxidase|not provided|Congenital hypothyroidism
β˜…β˜…β˜†β˜†2024β†’ Residue 17
NM_001206744.2(TPO):c.670_672del (p.Asp224del)Pathogenic
not provided|Deficiency of iodide peroxidase
β˜…β˜…β˜†β˜†2024β†’ Residue 224
NM_001206744.2(TPO):c.2141del (p.Phe714fs)Pathogenic
Deficiency of iodide peroxidase|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 714
NM_001206744.2(TPO):c.2421dup (p.Cys808fs)Pathogenic
Deficiency of iodide peroxidase|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 808
NM_001206744.2(TPO):c.265C>T (p.Arg89Ter)Pathogenic
Deficiency of iodide peroxidase|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 89
NM_001206744.2(TPO):c.1039G>T (p.Glu347Ter)Pathogenic
not provided|Deficiency of iodide peroxidase
β˜…β˜…β˜†β˜†2024β†’ Residue 347
NM_001206744.2(TPO):c.2314_2332del (p.Tyr772fs)Pathogenic
not provided|Deficiency of iodide peroxidase
β˜…β˜…β˜†β˜†2024β†’ Residue 772
NM_001206744.2(TPO):c.482+1G>ALikely pathogenic
Deficiency of iodide peroxidase|not provided
β˜…β˜…β˜†β˜†2024
NM_001206744.2(TPO):c.2688C>A (p.Cys896Ter)Pathogenic
not provided|Deficiency of iodide peroxidase
β˜…β˜…β˜†β˜†2024β†’ Residue 896
NM_001206744.2(TPO):c.387del (p.Asn129fs)Pathogenic
Deficiency of iodide peroxidase|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 129
NM_001206744.2(TPO):c.2492T>G (p.Leu831Ter)Pathogenic
Deficiency of iodide peroxidase|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 831
NM_001206744.2(TPO):c.2578G>A (p.Gly860Arg)Pathogenic
not provided|Deficiency of iodide peroxidase
β˜…β˜…β˜†β˜†2024β†’ Residue 860
View on ClinVar β†—
Drug Targets3
CARBIMAZOLEApproved
Thyroid peroxidase inhibitor
hyperthyroidism
METHIMAZOLEApproved
Thyroid peroxidase inhibitor
hyperthyroidism
PROPYLTHIOURACILApproved
Thyroid peroxidase inhibitor
Related Genes
FOXE1Protein interaction99%SLC26A4Protein interaction99%SLC5A5Protein interaction99%TSHRProtein interaction97%GOT1L1Protein interaction96%IL4I1Protein interaction93%
Tissue Expression6 tissues
Heart
100%
Lung
10%
Liver
5%
Ovary
4%
Brain
3%
Bone Marrow
0%
Gene Interaction Network
Click a node to explore
TPOFOXE1SLC26A4SLC5A5TSHRGOT1L1IL4I1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P07202
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.97LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.80 [0.67–0.97]
RankingsWhere TPO stands among ~20K protein-coding genes
  • #2,356of 20,598
    Most Researched184 Β· top quartile
  • #464of 1,025
    FDA-Approved Drug Targets3
  • #647of 5,498
    Most Pathogenic Variants121 Β· top quartile
  • #9,176of 17,882
    Most Constrained (LOEUF)0.97
Genes detectedTPO
Sources retrieved26 papers
Response timeβ€”
πŸ“„ Sources
26β–Ό
1
Structure of the thrombopoietin-MPL receptor complex is a blueprint for biasing hematopoiesis.
PMID: 37633268
Cell Β· 2023
1.00
2
Thrombopoietin.
PMID: 10495959
Growth Factors Β· 1999
0.90
3
Thrombopoietin factors.
PMID: 21052951
Cancer Treat Res Β· 2011
0.80
4
c-Mpl and TPO expression in the human central nervous system neurons inhibits neuronal apoptosis.
PMID: 32341206
Aging (Albany NY) Β· 2020
0.72
5
Thyroid autoantibodies.
PMID: 11712692
Scand J Clin Lab Invest Suppl Β· 2001
0.70