TPO (thyroid peroxidase)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
7173
Gene name Gene Name - the full gene name approved by the HGNC.
Thyroid peroxidase
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
TPO
Synonyms (NCBI Gene) Gene synonyms aliases
MSA, TDH2A, TPX
Chromosome Chromosome number
2
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
2p25.3
Summary Summary of gene provided in NCBI Entrez 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 pa
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(22)
SNP ID Visualize variation Clinical significance Consequence
rs104893669 A>G,T Pathogenic Coding sequence variant, missense variant
rs121908082 C>A,G,T Pathogenic Coding sequence variant, missense variant, intron variant, stop gained, synonymous variant
rs121908083 T>G Pathogenic Coding sequence variant, missense variant
rs121908084 G>A,C Pathogenic Intron variant, coding sequence variant, missense variant
rs121908085 G>A Pathogenic Intron variant, coding sequence variant, missense variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(13)
miRTarBase ID miRNA Experiments Reference
MIRT018757 hsa-miR-335-5p Microarray 18185580
MIRT030038 hsa-miR-26b-5p Microarray 19088304
MIRT736607 hsa-let-7a-3p RNA-seq, qRT-PCR 32824820
MIRT1449916 hsa-miR-1292 CLIP-seq
MIRT1449917 hsa-miR-3122 CLIP-seq
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(4)
Transcription factor Regulation Reference
CLOCK Unknown 22284746
FOXA2 Activation 8602863
FOXE1 Unknown 10329730;20094846
TTF2 Activation 8602863
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(20)
GO ID Ontology Definition Evidence Reference
GO:0004447 Function Iodide peroxidase activity IEA
GO:0004601 Function Peroxidase activity IBA
GO:0004601 Function Peroxidase activity IEA
GO:0004601 Function Peroxidase activity TAS 3475693
GO:0005509 Function Calcium ion binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
606765 12015 ENSG00000115705
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID P07202
Protein name Thyroid peroxidase (TPO) (EC 1.11.1.8)
Protein function Iodination and coupling of the hormonogenic tyrosines in thyroglobulin to yield the thyroid hormones T(3) and T(4).
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF03098 An_peroxidase 151 → 709 Animal haem peroxidase Domain
PF00084 Sushi 742 → 794 Sushi repeat (SCR repeat) Domain
PF07645 EGF_CA 796 → 838 Calcium-binding EGF domain Domain
Sequence 
MRALAVLSVTLVMACTEAFFPFISRGKELLWGKPEESRVSSVLEESKRLVDTAMYATMQR
NLKKRGILSPAQLLSFSKLPEPTSGVIARAAEIMETSIQAMKRKVNLKTQQSQHPTDALS
EDLLSIIANMSGCLPYMLPPKCPNTCLANKYRPITGACNNRDHPRWGASNTALARWLPPV
YEDGFSQPRGWNPGFLYNGFPLPPVREVTRHVIQVSNEVVTDDDRYSDLLMAWGQYIDHD
IAFTPQSTSKAAFGGGADCQMTCENQNPCFPIQLPEEARPAAGTACLPFYRSSAACGTGD
QGALFGNLSTANPRQQMNGLTSFLDASTVYGSSPALERQLRNWTSAEGLLRVHARLRDSG
RAYLPFVPPRAPAACAPEPGIPGETRGPCFLAGDGRASEVPSLTALHTLWLREHNRLAAA
LKALNAHWSADAVYQEARKVVGALHQIITLRDYIPRILGPEAFQQYVGPYEGYDSTANPT
VSNVFSTAAFRFGHATIHPLVRRLDASFQEHPDLPGLWLHQAFFSPWTLLRGGGLDPLIR
GLLARPAKLQVQDQLMNEELTERLFVLSNSSTLDLASINLQRGRDHGLPGYNEWREFCGL
PRLETPADLSTAIASRSVADKILDLYKHPDNIDVWLGGLAENFLPRARTGPLFACLIGKQ
MKALRDGDWFWWENSHVFTDAQRRELEKHSLSRVICDNTGLTRVPMDAFQVGKFPEDFES
CDSITGMNLEAWRETFPQDDKCGFPESVENGDFVHCEESGRRVLVYSCRHGYELQGREQL
TCTQEGWDFQPPLCKDVNECADGAHPPCHASARCRNTKGGFQCLCADPYELGDDGRTCVD
SGRLPRVTWISMSLAALLIGGFAGLTSTVICRWTRTGTKSTLPISETGGGTPELRCGKHQ
AVGTSPQRAAAQDSEQESAGMEGRDTHRLPRAL
Sequence length 933
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Tyrosine metabolism
Metabolic pathways
Thyroid hormone synthesis
Autoimmune thyroid disease 		  Thyroxine biosynthesis
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Causal Diseases (1)
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Disease merge term Disease name dbSNP ID References
deficiency of iodide peroxidase Deficiency of iodide peroxidase rs121908084, rs763941231, rs121908085, rs766399662, rs760307139, rs1558307375, rs121908086, rs1573459560, rs763662774, rs770781635, rs1667768234, rs1573380429, rs121908088, rs121908082, rs1491142370
View all (4 more)		 N/A
Show/Hide Unknown Diseases (5)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Congenital Hypothyroidism congenital hypothyroidism N/A N/A ClinVar
Hypothyroidism Hypothyroidism, hypothyroidism due to tsh receptor mutations N/A N/A GWAS, ClinVar
Myocardial Infarction Myocardial infarction N/A N/A GWAS
Oligodendroglioma Oligodendroglioma N/A N/A GWAS
Show/Hide Text Mining Associations (78)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
Abortion Spontaneous Associate 37907956
Adenocarcinoma Follicular Associate 27329729
amyloidosis IX Associate 26405069
Anemia Diamond Blackfan Associate 12718904
Arthritis Rheumatoid Associate 36738663
Asthma Associate 22947910, 24518246
Asymptomatic Infections Associate 28500830
Autoimmune Diseases Associate 10520899, 28349935, 38295322
Bamforth syndrome Associate 24219130
Breast Neoplasms Associate 24114667, 28575127