This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are assoc... See more...

Aliases for TPO Gene

Aliases for TPO Gene

  • Thyroid Peroxidase 2 3 4 5
  • EC 4 50
  • TPX 2 3
  • Thyroid Microsomal Antigen 3
  • Thyroperoxidase 3
  • EC 1.11.1 50
  • TDH2A 3
  • MSA 3
  • TPO 5

External Ids for TPO Gene

Previous GeneCards Identifiers for TPO Gene

  • GC02P001422
  • GC02P001360
  • GC02P001396

Summaries for TPO Gene

Entrez Gene Summary for TPO Gene

  • This gene encodes a membrane-bound glycoprotein. The encoded protein acts as an enzyme and plays a central role in thyroid gland function. The protein functions in the iodination of tyrosine residues in thyroglobulin and phenoxy-ester formation between pairs of iodinated tyrosines to generate the thyroid hormones, thyroxine and triiodothyronine. Mutations in this gene are associated with several disorders of thyroid hormonogenesis, including congenital hypothyroidism, congenital goiter, and thyroid hormone organification defect IIA. Multiple transcript variants encoding distinct isoforms have been identified for this gene, but the full-length nature of some variants has not been determined. [provided by RefSeq, May 2011]

GeneCards Summary for TPO Gene

TPO (Thyroid Peroxidase) is a Protein Coding gene. Diseases associated with TPO include Thyroid Dyshormonogenesis 2A and Familial Thyroid Dyshormonogenesis. Among its related pathways are Hematopoietic Stem Cell Differentiation and Development of pulmonary dendritic cells and macrophage subsets. Gene Ontology (GO) annotations related to this gene include calcium ion binding and peroxidase activity. An important paralog of this gene is PXDN.

UniProtKB/Swiss-Prot Summary for TPO Gene

  • Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).

No data available for CIViC Summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for TPO Gene

Genomics for TPO Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for TPO Gene
GeneHancer (GH) Identifier GH Type GH
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH02J001374 Promoter 0.8 EPDnew Ensembl 259.3 +1.2 1234 2.6 EZH2 TPO ENSG00000228613 piR-48209-357 ENSG00000231482 PXDN
GH02J001413 Promoter 0.5 EPDnew 272.9 +39.4 39378 0.1 NFE2 POLR2A TPO HSALNG0012463 piR-31534-356 ENSG00000231482 PXDN
GH02J001414 Promoter 0.5 EPDnew 250.3 +40.3 40321 0.1 RAD21 POLR2A TPO HSALNG0012463 piR-31534-356 ENSG00000231482 PXDN
GH02J001509 Enhancer 1 FANTOM5 Ensembl ENCODE dbSUPER 15.6 +136.4 136434 2.6 STAT3 GATA2 KLF1 CHD2 TPO piR-40110-351 NONHSAG026803.2 HSALNG0012473 ENSG00000231482 ENSG00000228613 PXDN
GH02J001517 Enhancer 0.7 Ensembl ENCODE dbSUPER 7.7 +144.9 144856 3 NFE2 SPI1 CREB1 TPO ENSG00000228613 piR-40110-351 HSALNG0012473 NONHSAG026803.2 ENSG00000231482 PXDN
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around TPO on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for TPO

Top Transcription factor binding sites by QIAGEN in the TPO gene promoter:
  • AML1a
  • STAT3

Genomic Locations for TPO Gene

Latest Assembly
169,646 bases
Plus strand

Previous Assembly
(GRCh37/hg19 by Entrez Gene)
130,211 bases
Plus strand

(GRCh37/hg19 by Ensembl)
169,489 bases
Plus strand

Alternative Locations (GRCh38/hg38)

  • chr2(ALT_REF_LOCI_1):96,661-223,095 (+)

Genomic View for TPO Gene

Genes around TPO on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
TPO Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for TPO Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for TPO Gene

Proteins for TPO Gene

  • Protein details for TPO Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Thyroid peroxidase
    Protein Accession:
    Secondary Accessions:
    • P09934
    • P09935
    • Q8IUL0
    • Q8NF94
    • Q8NF95
    • Q8NF96
    • Q8NF97
    • Q8TCI9

    Protein attributes for TPO Gene

    933 amino acids
    Molecular mass:
    102963 Da
    Name=Ca(2+); Xref=ChEBI:CHEBI:29108;
    Name=heme b; Xref=ChEBI:CHEBI:60344;
    Quaternary structure:
    • Interacts with DUOX1, DUOX2 and CYBA.
    • [Isoform 2]: Lacks exon 10. Found in normal thyroid tissues as well as Graves'tissues. Rapidly degraded after synthesis, does not reach the cell surface. Inactive.
    • [Isoform 3]: Lacks exon 16. Found in normal thyroid tissues as well as Graves'tissues. Active.
    • [Isoform 4]: Lacks exon 14. Active.
    • [Isoform 5]: Lacks exon 8. Does not fold correctly. Does not reach the cell surface.
    • [Isoform 6]: Lacks exons 10, 12, 13, 14 and 16.
    • [Isoform 2-3]: Lacks exons 10 and 16.
    • [Isoform 2-4]: Lacks exons 10 and 14.

    Alternative splice isoforms for TPO Gene

neXtProt entry for TPO Gene

Selected DME Specific Peptides for TPO Gene


Post-translational modifications for TPO Gene

  • Glycosylated.
  • Heme is covalently bound through a H(2)O(2)-dependent autocatalytic process. Heme insertion is important for the delivery of protein at the cell surface.
  • Cleaved in its N-terminal part.
  • Glycosylation at Asn129, Asn307, Asn342, and Asn569
  • Ubiquitination at Lys879
  • Modification sites at PhosphoSitePlus

Domains & Families for TPO Gene

Gene Families for TPO Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • FDA approved drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins

Protein Domains for TPO Gene

  • Aspartic acid and asparagine hydroxylation site
  • EGF-like calcium-binding
  • Sushi domain/SCR domain/CCP module
  • Animal haem peroxidase signature
  • Haem peroxidase

Suggested Antigen Peptide Sequences for TPO Gene

GenScript: Design optimal peptide antigens:
  • Thyroid peroxidase (A0M8X1_HUMAN)
  • Thyroid peroxidase (PERT_HUMAN)
  • Thyroid peroxidase (Q16495_HUMAN)
  • Thyroid peroxidase (Q16496_HUMAN)
  • Thyroid peroxidase (Q502Y3_HUMAN)

Graphical View of Domain Structure for InterPro Entry



  • Belongs to the peroxidase family. XPO subfamily.
  • Belongs to the peroxidase family. XPO subfamily.
genes like me logo Genes that share domains with TPO: view

Function for TPO Gene

Molecular function for TPO Gene

UniProtKB/Swiss-Prot Function:
Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 H(+) + H2O2 + 2 iodide = diiodine + 2 H2O; Xref=Rhea:RHEA:23336, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16240, ChEBI:CHEBI:16382, ChEBI:CHEBI:17606; EC=; Evidence={ECO:0000250|UniProtKB:P09933};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thyroglobulin]-L-tyrosine + H(+) + H2O2 + iodide = [thyroglobulin]-3-iodo-L-tyrosine + 2 H2O; Xref=Rhea:RHEA:48956, Rhea:RHEA-COMP:12274, Rhea:RHEA-COMP:12275, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16240, ChEBI:CHEBI:16382, ChEBI:CHEBI:46858, ChEBI:CHEBI:90870; EC=; Evidence={ECO:0000250|UniProtKB:P09933};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thyroglobulin]-3-iodo-L-tyrosine + H(+) + H2O2 + iodide = [thyroglobulin]-3,5-diiodo-L-tyrosine + 2 H2O; Xref=Rhea:RHEA:48960, Rhea:RHEA-COMP:12275, Rhea:RHEA-COMP:12276, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:16240, ChEBI:CHEBI:16382, ChEBI:CHEBI:90870, ChEBI:CHEBI:90871; EC=; Evidence={ECO:0000250|UniProtKB:P09933};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=2 [thyroglobulin]-3,5-diiodo-L-tyrosine + H2O2 = [thyroglobulin]-dehydroalanine + [thyroglobulin]-L-thyroxine + 2 H2O; Xref=Rhea:RHEA:48964, Rhea:RHEA-COMP:12276, Rhea:RHEA-COMP:12277, Rhea:RHEA-COMP:12278, ChEBI:CHEBI:15377, ChEBI:CHEBI:16240, ChEBI:CHEBI:90871, ChEBI:CHEBI:90872, ChEBI:CHEBI:90873; EC=; Evidence={ECO:0000250|UniProtKB:P09933};.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=[thyroglobulin]-3,5-diiodo-L-tyrosine + [thyroglobulin]-3-iodo-L-tyrosine + H2O2 = [thyroglobulin]-3,3',5-triiodo-L-thyronine + [thyroglobulin]-dehydroalanine + 2 H2O; Xref=Rhea:RHEA:48968, Rhea:RHEA-COMP:12275, Rhea:RHEA-COMP:12276, Rhea:RHEA-COMP:12278, Rhea:RHEA-COMP:12279, ChEBI:CHEBI:15377, ChEBI:CHEBI:16240, ChEBI:CHEBI:90870, ChEBI:CHEBI:90871, ChEBI:CHEBI:90873, ChEBI:CHEBI:90874; EC=; Evidence={ECO:0000250|UniProtKB:P09933};.
GENATLAS Biochemistry:
thyroid peroxidase,thyroid hormone synthesis (iodide organification) and metabolism pathway

Enzyme Numbers (IUBMB) for TPO Gene

Phenotypes From GWAS Catalog for TPO Gene

Gene Ontology (GO) - Molecular Function for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004447 iodide peroxidase activity IEA --
GO:0004601 peroxidase activity TAS --
GO:0005509 calcium ion binding IEA --
GO:0016491 oxidoreductase activity IEA --
GO:0020037 heme binding IEA --
genes like me logo Genes that share ontologies with TPO: view
genes like me logo Genes that share phenotypes with TPO: view

Human Phenotype Ontology for TPO Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

miRNA for TPO Gene

miRTarBase miRNAs that target TPO

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPO

Clone products for research

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for TPO Gene

Localization for TPO Gene

Subcellular locations from UniProtKB/Swiss-Prot for TPO Gene

Membrane. Single-pass type I membrane protein.
[Isoform 3]: Cell surface.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for TPO gene
Compartment Confidence
plasma membrane 5
extracellular 5
cytosol 3
cytoskeleton 2
mitochondrion 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005615 extracellular space IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 2548579
GO:0009986 cell surface IEA --
GO:0016020 membrane IEA --
genes like me logo Genes that share ontologies with TPO: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for TPO Gene

Pathways & Interactions for TPO Gene

genes like me logo Genes that share pathways with TPO: view

UniProtKB/Swiss-Prot P07202-PERT_HUMAN

  • Pathway: Hormone biosynthesis; thyroid hormone biosynthesis.

SIGNOR curated interactions for TPO Gene


Gene Ontology (GO) - Biological Process for TPO Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006590 thyroid hormone generation TAS --
GO:0006979 response to oxidative stress IEA --
GO:0035162 embryonic hemopoiesis IDA 21149635
GO:0042446 hormone biosynthetic process IEA --
GO:0042744 hydrogen peroxide catabolic process IEA --
genes like me logo Genes that share ontologies with TPO: view

Drugs & Compounds for TPO Gene

(63) Drugs for TPO Gene - From: DrugBank, ClinicalTrials, ApexBio, DGIdb, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Propylthiouracil Approved, Investigational Pharma Target, inhibitor 12
Carbimazole Approved, Investigational Pharma Target, inhibitor 4
Methimazole Approved Pharma Target, substrate, inhibitor ICAM-1 inhibitor 25
Iodine Approved, Investigational Pharma Enzyme, substrate 907
Dextrothyroxine Approved, Investigational Pharma Target 0

(34) Additional Compounds for TPO Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
2-Aminoacrylic acid
  • 2,3-Didehydroalanine
  • 2-Aminoacrylate
  • alpha,beta-Dehydroalanine
  • Anhydroserine2-aminopropenoic acid
  • Dehydroalanine
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
  • (Hydroxysulfanyl)formonitrile
  • Cyanosulfoxylic acid
  • Hypocyanous acid
  • (Hydroxysulphanyl)formonitrile
  • Cyanosulfoxylate
  • [HI]
  • HI
  • Hydriodic acid
  • Hydrogeniodid
  • Hydroiodic acid

(1) ApexBio Compounds for TPO Gene

Compound Action Cas Number
Propylthiouracil 51-52-5
genes like me logo Genes that share compounds with TPO: view

Transcripts for TPO Gene

mRNA/cDNA for TPO Gene

21 NCBI additional mRNA sequence :
16 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for TPO

Clone products for research

Alternative Splicing Database (ASD) splice patterns (SP) for TPO Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14 ^ 15 ^ 16 ^ 17a · 17b ^ 18a · 18b
SP1: - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: - -

Relevant External Links for TPO Gene

GeneLoc Exon Structure for

Expression for TPO Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for TPO Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for TPO Gene

This gene is overexpressed in Thyroid (x48.1).

Protein differential expression in normal tissues from HIPED for TPO Gene

This gene is overexpressed in Thyroid (59.9).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for TPO Gene

Protein tissue co-expression partners for TPO Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for TPO

SOURCE GeneReport for Unigene cluster for TPO Gene:


Evidence on tissue expression from TISSUES for TPO Gene

  • Thyroid gland(4.9)
  • Intestine(2.6)
  • Muscle(2.5)
  • Blood(2.4)
  • Spleen(2.4)
  • Nervous system(2.2)
  • Heart(2.1)
  • Skin(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for TPO Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • digestive
  • endocrine
  • integumentary
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • eye
  • face
  • head
  • hypothalamus
  • jaw
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • parathyroid
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tongue
  • breast
  • heart
  • lung
  • abdominal wall
  • intestine
  • large intestine
  • liver
  • small intestine
  • ovary
  • rectum
  • urinary bladder
  • uterus
  • blood
  • blood vessel
  • coagulation system
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • sweat gland
genes like me logo Genes that share expression patterns with TPO: view

Primer products for research

No data available for mRNA Expression by UniProt/SwissProt for TPO Gene

Orthologs for TPO Gene

This gene was present in the common ancestor of animals.

Orthologs for TPO Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia TPO 29
  • 98.31 (n)
(Bos Taurus)
Mammalia TPO 29
  • 77.8 (n)
(Rattus norvegicus)
Mammalia Tpo 29
  • 76.91 (n)
(Canis familiaris)
Mammalia TPO 29 30
  • 76.64 (n)
(Mus musculus)
Mammalia Tpo 29 16 30
  • 76.46 (n)
(Monodelphis domestica)
Mammalia TPO 30
  • 69 (a)
(Ornithorhynchus anatinus)
Mammalia TPO 30
  • 65 (a)
(Gallus gallus)
Aves TPO 29 30
  • 64.46 (n)
(Anolis carolinensis)
Reptilia TPO 30
  • 62 (a)
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia tpo 29
  • 59.67 (n)
(Danio rerio)
Actinopterygii TPO 30
  • 66 (a)
LOC100331172 29
  • 53.51 (n)
Fruit Fly
(Drosophila melanogaster)
Insecta CG5873 31
  • 34 (a)
CG10211 31
  • 33 (a)
CG6879 31
  • 33 (a)
CG6969 31
  • 33 (a)
pxt 31
  • 28 (a)
Irc 30
  • 23 (a)
(Caenorhabditis elegans)
Secernentea F32A5.2a 31
  • 35 (a)
F32A5.2b 31
  • 35 (a)
C16C8.2 31
  • 34 (a)
F49E12.1 31
  • 34 (a)
ZK430.8 31
  • 33 (a)
C46A5.4 31
  • 32 (a)
K10B4.1 31
  • 31 (a)
R08F11.7 31
  • 30 (a)
F09F3.5 30 31
  • 25 (a)
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 29 (a)
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.14230 29
Species where no ortholog for TPO was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for TPO Gene

Gene Tree for TPO (if available)
Gene Tree for TPO (if available)
Evolutionary constrained regions (ECRs) for TPO: view image
Alliance of Genome Resources:
Additional Orthologs for TPO

Paralogs for TPO Gene

Paralogs for TPO Gene

(6) SIMAP similar genes for TPO Gene using alignment to 15 proteins:

  • A0M8X1_HUMAN
  • C9J511_HUMAN
  • H0Y6H4_HUMAN
  • H7C1F5_HUMAN
  • H7C5B6_HUMAN
  • Q16495_HUMAN
  • Q16496_HUMAN
  • Q502Y3_HUMAN
  • Q53QT2_HUMAN
  • Q57YV8_HUMAN
  • Q6P534_HUMAN
genes like me logo Genes that share paralogs with TPO: view

Variants for TPO Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for TPO Gene

SNP ID Clinical significance and condition Chr 02 pos Variation AA Info Type
1028336 Uncertain Significance: Deficiency of iodide peroxidase 1,477,578(+) C/T
NM_001206744.2(TPO):c.1312C>T (p.Arg438Cys)
1028337 Pathogenic: Deficiency of iodide peroxidase 1,433,472(+) C/T
NM_001206744.2(TPO):c.214C>T (p.Gln72Ter)
1028338 Uncertain Significance: Deficiency of iodide peroxidase 1,496,678(+) T/C
NM_001206744.2(TPO):c.2299T>C (p.Ser767Pro)
869101 Likely Pathogenic: Deficiency of iodide peroxidase 1,456,182(+) A/G
NM_001206744.2(TPO):c.719A>G (p.Asp240Gly)
892679 Uncertain Significance: Deficiency of iodide peroxidase 1,516,901(+) G/A
NM_001206744.2(TPO):c.2537G>A (p.Arg846Gln)

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for TPO Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for TPO Gene

Variant ID Type Subtype PubMed ID
dgv1835n106 CNV deletion 24896259
dgv1836n106 CNV duplication 24896259
dgv1837n106 CNV deletion 24896259
dgv232e215 CNV deletion 23714750
dgv3701n100 CNV gain 25217958
dgv559e201 CNV deletion 23290073
dgv560e201 CNV deletion 23290073
dgv561e201 CNV deletion 23290073
dgv562e201 CNV deletion 23290073
dgv563e201 CNV deletion 23290073
dgv564e201 CNV deletion 23290073
dgv603n67 CNV loss 20364138
dgv604n67 CNV loss 20364138
dgv605n67 CNV loss 20364138
dgv6611n54 CNV gain 21841781
dgv6612n54 CNV gain 21841781
dgv6613n54 CNV loss 21841781
dgv6614n54 CNV loss 21841781
dgv6615n54 CNV loss 21841781
dgv6616n54 CNV loss 21841781
dgv6617n54 CNV loss 21841781
dgv6618n54 CNV loss 21841781
dgv6619n54 CNV gain+loss 21841781
dgv6620n54 CNV loss 21841781
dgv6621n54 CNV gain 21841781
dgv6622n54 CNV loss 21841781
dgv6623n54 CNV loss 21841781
dgv6624n54 CNV loss 21841781
dgv6625n54 CNV loss 21841781
dgv6626n54 CNV gain 21841781
dgv6627n54 CNV loss 21841781
dgv6628n54 CNV loss 21841781
dgv6629n54 CNV loss 21841781
dgv6630n54 CNV loss 21841781
dgv6631n54 CNV loss 21841781
dgv6632n54 CNV loss 21841781
dgv6633n54 CNV loss 21841781
dgv6634n54 CNV gain 21841781
dgv6635n54 CNV loss 21841781
dgv6636n54 CNV loss 21841781
dgv6637n54 CNV loss 21841781
dgv6638n54 CNV gain 21841781
dgv6639n54 CNV loss 21841781
dgv6640n54 CNV gain 21841781
dgv6641n54 CNV loss 21841781
dgv6642n54 CNV gain 21841781
dgv6643n54 CNV gain 21841781
dgv6644n54 CNV loss 21841781
dgv6645n54 CNV loss 21841781
dgv6646n54 CNV loss 21841781
dgv6647n54 CNV gain 21841781
dgv6648n54 CNV loss 21841781
dgv6649n54 CNV loss 21841781
dgv6650n54 CNV loss 21841781
esv1002938 CNV insertion 20482838
esv1006306 CNV gain 20482838
esv1010288 CNV deletion 20482838
esv1053095 CNV deletion 17803354
esv1471512 CNV deletion 17803354
esv1496362 CNV insertion 17803354
esv1516032 CNV deletion 17803354
esv1641412 CNV deletion 17803354
esv1747962 CNV deletion 17803354
esv1981245 CNV deletion 18987734
esv2042950 CNV deletion 18987734
esv22106 CNV gain 19812545
esv2371250 CNV deletion 18987734
esv24515 CNV gain+loss 19812545
esv2598362 CNV loss 19546169
esv2643071 CNV deletion 19546169
esv2664648 CNV deletion 23128226
esv2670872 CNV deletion 23128226
esv2719234 CNV deletion 23290073
esv2719235 CNV deletion 23290073
esv2719236 CNV deletion 23290073
esv2719237 CNV deletion 23290073
esv2719238 CNV deletion 23290073
esv2719240 CNV deletion 23290073
esv2719241 CNV deletion 23290073
esv2719242 CNV deletion 23290073
esv2719243 CNV deletion 23290073
esv2719244 CNV deletion 23290073
esv2719245 CNV deletion 23290073
esv2719246 CNV deletion 23290073
esv2719247 CNV deletion 23290073
esv2719248 CNV deletion 23290073
esv2719252 CNV deletion 23290073
esv2719254 CNV deletion 23290073
esv2719255 CNV deletion 23290073
esv2719256 CNV deletion 23290073
esv2719257 CNV deletion 23290073
esv2719258 CNV deletion 23290073
esv2719259 CNV deletion 23290073
esv2719260 CNV deletion 23290073
esv2719261 CNV deletion 23290073
esv2719263 CNV deletion 23290073
esv2719264 CNV deletion 23290073
esv2719265 CNV deletion 23290073
esv2719267 CNV deletion 23290073
esv2719269 CNV deletion 23290073
esv2719270 CNV deletion 23290073
esv2719271 CNV deletion 23290073
esv2719272 CNV deletion 23290073
esv2719274 CNV deletion 23290073
esv2719279 CNV deletion 23290073
esv2719283 CNV deletion 23290073
esv2719288 CNV deletion 23290073
esv2719289 CNV deletion 23290073
esv2719290 CNV deletion 23290073
esv2719291 CNV deletion 23290073
esv2719292 CNV deletion 23290073
esv2743204 CNV deletion 23290073
esv2743205 CNV deletion 23290073
esv2743352 CNV deletion 23290073
esv27443 CNV gain 19812545
esv2759017 CNV gain 17122850
esv2760624 CNV gain 21179565
esv3450544 CNV duplication 20981092
esv35100 CNV gain 17911159
esv3550912 CNV deletion 23714750
esv3550923 CNV deletion 23714750
esv3550934 CNV deletion 23714750
esv3550956 CNV deletion 23714750
esv3550967 CNV deletion 23714750
esv3550978 CNV deletion 23714750
esv3550989 CNV deletion 23714750
esv3551034 CNV deletion 23714750
esv3551045 CNV deletion 23714750
esv3589629 CNV gain 21293372
esv3891470 CNV gain 25118596
esv3911 CNV loss 18987735
esv4097 OTHER sequence alteration 18987735
esv4834 CNV loss 18987735
esv8113 CNV loss 19470904
esv8957 CNV loss 19470904
esv999851 CNV gain 20482838
nsv1005443 CNV gain 25217958
nsv1014918 CNV gain 25217958
nsv1071959 CNV deletion 25765185
nsv1072906 CNV deletion 25765185
nsv1077869 CNV duplication 25765185
nsv1109226 CNV deletion 24896259
nsv1112752 CNV deletion 24896259
nsv1120366 CNV tandem duplication 24896259
nsv1125592 CNV deletion 24896259
nsv1126535 CNV deletion 24896259
nsv1130742 CNV deletion 24896259
nsv1134823 CNV deletion 24896259
nsv1138738 CNV deletion 24896259
nsv1142851 CNV deletion 24896259
nsv1142947 CNV tandem duplication 24896259
nsv1151150 CNV deletion 26484159
nsv1153183 CNV deletion 26484159
nsv214040 CNV deletion 16902084
nsv214173 CNV deletion 16902084
nsv214904 CNV deletion 16902084
nsv215163 CNV insertion 16902084
nsv2567 CNV insertion 18451855
nsv2568 CNV insertion 18451855
nsv2569 CNV insertion 18451855
nsv468916 CNV gain 19166990
nsv474783 CNV novel sequence insertion 20440878
nsv481195 CNV novel sequence insertion 20440878
nsv508790 CNV insertion 20534489
nsv511195 CNV loss 21212237
nsv511760 CNV loss 21212237
nsv511761 CNV loss 21212237
nsv525619 CNV loss 19592680
nsv527311 CNV gain 19592680
nsv527538 CNV loss 19592680
nsv580496 CNV gain 21841781
nsv580499 CNV loss 21841781
nsv580501 CNV loss 21841781
nsv580514 CNV gain+loss 21841781
nsv580515 CNV gain+loss 21841781
nsv580517 CNV gain+loss 21841781
nsv580520 CNV gain+loss 21841781
nsv580574 CNV loss 21841781
nsv580581 CNV gain+loss 21841781
nsv580593 CNV loss 21841781
nsv580609 CNV gain 21841781
nsv580613 CNV gain 21841781
nsv580614 CNV loss 21841781
nsv580616 CNV loss 21841781
nsv580618 CNV loss 21841781
nsv580622 CNV gain 21841781
nsv580626 CNV loss 21841781
nsv580627 CNV loss 21841781
nsv580644 CNV loss 21841781
nsv580654 CNV loss 21841781
nsv580661 CNV gain 21841781
nsv580662 CNV loss 21841781
nsv580672 CNV loss 21841781
nsv580674 CNV loss 21841781
nsv580679 CNV gain 21841781
nsv580680 CNV gain+loss 21841781
nsv580682 CNV loss 21841781
nsv580683 CNV loss 21841781
nsv580684 CNV loss 21841781
nsv580715 CNV gain 21841781
nsv580717 CNV gain+loss 21841781
nsv580719 CNV loss 21841781
nsv580731 CNV loss 21841781
nsv580732 CNV loss 21841781
nsv580733 CNV gain 21841781
nsv580736 CNV loss 21841781
nsv580737 CNV gain 21841781
nsv580740 CNV loss 21841781
nsv580743 CNV loss 21841781
nsv818900 CNV gain 17921354
nsv821156 CNV deletion 20802225
nsv827931 CNV gain 20364138
nsv833204 CNV gain 17160897
nsv9269 CNV gain 18304495
nsv953374 CNV deletion 24416366
nsv954707 CNV deletion 24416366

Variation tolerance for TPO Gene

Residual Variation Intolerance Score: 54.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 10.07; 90.16% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for TPO Gene

Human Gene Mutation Database (HGMD)
SNPedia medical, phenotypic, and genealogical associations of SNPs for
Leiden Open Variation Database (LOVD)

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for TPO Gene

Disorders for TPO Gene

MalaCards: The human disease database

(74) MalaCards diseases for TPO Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
thyroid dyshormonogenesis 2a
  • tdh2a
familial thyroid dyshormonogenesis
  • thyroid dyshormonogenesis
congenital hypothyroidism
  • neonatal hypothyroidism
  • goitre
  • thyroid deficiency
- elite association - COSMIC cancer census association via MalaCards
Search TPO in MalaCards View complete list of genes associated with diseases


  • Note=An alternative splicing in the thyroperoxidase mRNA can cause Graves' disease.
  • Thyroid dyshormonogenesis 2A (TDH2A) [MIM:274500]: A disorder due to defective conversion of accumulated iodide to organically bound iodine. The iodide organification defect can be partial or complete. {ECO:0000269 PubMed:10084596, ECO:0000269 PubMed:10468986, ECO:0000269 PubMed:11061528, ECO:0000269 PubMed:11415848, ECO:0000269 PubMed:11874711, ECO:0000269 PubMed:11916616, ECO:0000269 PubMed:12213873, ECO:0000269 PubMed:12490071, ECO:0000269 PubMed:12843174, ECO:0000269 PubMed:12864797, ECO:0000269 PubMed:12938097, ECO:0000269 PubMed:16284446, ECO:0000269 PubMed:16684826, ECO:0000269 PubMed:27305979, ECO:0000269 PubMed:7550241, ECO:0000269 PubMed:9024270, ECO:0000269 PubMed:9924196}. Note=The disease is caused by variants affecting the gene represented in this entry.

Genatlas disease for TPO Gene

goiter (organification defect IIA)

Additional Disease Information for TPO

Human Genome Epidemiology Navigator
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with TPO: view

Publications for TPO Gene

  1. Monoallelic expression of mutant thyroid peroxidase allele causing total iodide organification defect. (PMID: 12843174) Fugazzola L … Beck-Peccoz P (The Journal of clinical endocrinology and metabolism 2003) 3 4 22 72
  2. High prevalence of a novel mutation (2268 insT) of the thyroid peroxidase gene in Taiwanese patients with total iodide organification defect, and evidence for a founder effect. (PMID: 12213873) Niu DM … Lin CY (The Journal of clinical endocrinology and metabolism 2002) 3 4 22 72
  3. Two decades of screening for congenital hypothyroidism in The Netherlands: TPO gene mutations in total iodide organification defects (an update). (PMID: 11061528) Bakker B … De Vijlder JJ (The Journal of clinical endocrinology and metabolism 2000) 3 4 22 72
  4. Two different mutations in the thyroid peroxidase gene of a large inbred Amish kindred: power and limits of homozygosity mapping. (PMID: 10084596) Pannain S … Refetoff S (The Journal of clinical endocrinology and metabolism 1999) 3 4 22 72
  5. A novel mutation in the TPO gene in goitrous hypothyroid patients with iodide organification defect. (PMID: 10468986) Santos CL … Medeiros-Neto G (Clinical endocrinology 1999) 3 4 22 72

Products for TPO Gene

Sources for TPO Gene