Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	7173
Gene name	Thyroid peroxidase
Gene symbol	TPO
Synonyms (NCBI Gene)	MSATDH2ATPX
Chromosome	2
Chromosome location	2p25.3
Summary	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

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
rs121908086	G>A	Pathogenic	Coding sequence variant, missense variant
rs121908087	C>T	Pathogenic	Coding sequence variant, missense variant
rs121908088	C>G,T	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant, missense variant
rs140124953	G>A,C	Pathogenic	Coding sequence variant, missense variant
rs151154074	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs372225161	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs547339082	C>A,T	Likely-pathogenic	Missense variant, intron variant, synonymous variant, coding sequence variant
rs760307139	C>-,CC	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs763662774	T>-	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs763941231	->GCCG	Pathogenic	Frameshift variant, coding sequence variant, intron variant
rs770781635	->T	Pathogenic	Coding sequence variant, stop gained
rs1057518950	C>T	Likely-pathogenic	Missense variant, coding sequence variant
rs1491142370	->T	Pathogenic	Frameshift variant, coding sequence variant
rs1558307375	->G	Pathogenic	Frameshift variant, coding sequence variant
rs1573174859	TCAG>AT	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1573380429	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1573459560	T>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant

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-seqqRT-PCR	32824820
MIRT1449916	hsa-miR-1292	CLIP-seq
MIRT1449917	hsa-miR-3122	CLIP-seq
MIRT1449918	hsa-miR-3913-5p	CLIP-seq
MIRT1449919	hsa-miR-4471	CLIP-seq
MIRT2134460	hsa-miR-1184	CLIP-seq
MIRT2134461	hsa-miR-1205	CLIP-seq
MIRT2134462	hsa-miR-3158-5p	CLIP-seq
MIRT2134463	hsa-miR-4252	CLIP-seq
MIRT2134464	hsa-miR-4722-3p	CLIP-seq
MIRT2134465	hsa-miR-544	CLIP-seq

Show/Hide all (4)

Transcription factor	Regulation	Reference
CLOCK	Unknown	22284746
FOXA2	Activation	8602863
FOXE1	Unknown	10329730;20094846
TTF2	Activation	8602863

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
GO:0005615	Component	Extracellular space	HDA	22664934
GO:0005615	Component	Extracellular space	IBA
GO:0005886	Component	Plasma membrane	TAS	2548579
GO:0006590	Process	Thyroid hormone generation	IEA
GO:0006590	Process	Thyroid hormone generation	TAS
GO:0006979	Process	Response to oxidative stress	IEA
GO:0009986	Component	Cell surface	IEA
GO:0016020	Component	Membrane	IEA
GO:0016491	Function	Oxidoreductase activity	IEA
GO:0020037	Function	Heme binding	IEA
GO:0035162	Process	Embryonic hemopoiesis	IDA	21149635
GO:0042446	Process	Hormone biosynthetic process	IEA
GO:0042744	Process	Hydrogen peroxide catabolic process	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:0098869	Process	Cellular oxidant detoxification	IEA

MIM	HGNC	e!Ensembl
606765	12015	ENSG00000115705

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

	KEGG		Reactome
	Tyrosine metabolism Metabolic pathways Thyroid hormone synthesis Autoimmune thyroid disease		Thyroxine biosynthesis

220

Show/Hide Causal Diseases (5)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Congenital hypothyroidism	Pathogenic; Likely pathogenic	rs749174434, rs770781635, rs1670028028, rs1385139268	RCV006442434 RCV006436376 RCV001270335 RCV001270340
Deficiency of iodide peroxidase	Pathogenic; Likely pathogenic	rs200273438, rs778515113, rs201800220, rs556552435, rs774713681, rs749174434, rs753012199, rs2125001180, rs759809305, rs121908082, rs104893669, rs121908083, rs121908084, rs121908085, rs760307139 View all (24 more)	RCV001329365 RCV003230667 RCV001376081 RCV002280187 RCV002274208 RCV001808258 RCV002250953 RCV002251166 RCV002277634 RCV000004257 RCV000004258 RCV000004259 RCV000004260 RCV000004261 RCV000004262 RCV000004263 RCV000004264 RCV000004265 RCV000004267 RCV000004268 RCV000004269 RCV003317777 RCV003331725 RCV004801342 RCV003447729 RCV003447730 RCV004796820 RCV004701726 RCV005014908 RCV005015018 RCV005030335 RCV001196337 RCV000414861 RCV000779280 RCV000709870 RCV000761531 RCV000761530 RCV000779282 RCV001257078 RCV001257080
Lung cancer	Pathogenic	rs778515113	RCV005912570
Neurodevelopmental disorder	Pathogenic	rs778515113	RCV001374909
TPO-related disorder	Likely pathogenic; Pathogenic	rs2546096706, rs138931129, rs776742629, rs992392323, rs763941231	RCV003400433 RCV003399452 RCV004741637 RCV003982666 RCV003932797

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Colon adenocarcinoma	Uncertain significance	rs199796122	RCV005913828
Familial cancer of breast	Uncertain significance	rs140731896	RCV005928807
Gastric cancer	Benign	rs78253418	RCV005895942
Hepatocellular carcinoma	Uncertain significance	rs3732349	RCV005895944
Hypothyroidism due to TSH receptor mutations	Uncertain significance	rs148683218	RCV002272212
Malignant lymphoma, large B-cell, diffuse	Benign	rs78253418	RCV005895941
Malignant tumor of esophagus	Benign; Likely benign	rs28991288, rs78253418	RCV005869312 RCV005895940
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs78253418, rs28915688	RCV005895943 RCV005913833
Thyroid cancer, nonmedullary, 1	Uncertain significance; Likely benign	rs3732349, rs13429240	RCV005895945 RCV005935067
Uterine carcinosarcoma	Benign	rs4927579	RCV005919851

Show/Hide Text Mining Associations (78)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
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
Carcinogenesis	Associate	37407700
Carcinoma Non Small Cell Lung	Associate	11571539
Carcinoma Papillary	Inhibit	15196594
Cardiomyopathy Dilated	Associate	29320567
Chronic Urticaria	Associate	34539625, 37716526
Colitis Microscopic	Associate	23776613
Colorectal Neoplasms	Associate	33779485
Congenital Abnormalities	Associate	15613581
Congenital Hypothyroidism	Associate	15745925, 21274344, 24745015, 25241611, 26761947, 26777044, 26831560, 26894573, 27173810, 27525530, 30022773, 30375286, 34128397, 34200080, 34276565 View all (7 more)
Deafness	Associate	21274344
Developmental Disabilities	Associate	34128397, 37780999
Diabetes Mellitus Type 1	Associate	17334650, 17392553, 18322310, 23480181, 26070305, 26405068, 28024155
Diabetic Nephropathies	Associate	34545296
Disease	Associate	29431870
Epileptic Syndromes	Associate	27373559
Eye Abnormalities	Associate	37780999
Gastritis	Associate	21829393
Genetic Diseases Inborn	Associate	24420335, 28541007, 38295322
Glomerulonephritis Membranous	Associate	34115025
Goiter	Associate	1401057, 30375286, 34220711, 37361526
Goiter Multinodular 2	Associate	20675271, 37361526
Graves Disease	Associate	10520899, 10585396, 11556840, 1379223, 16285898, 16478776, 17612898, 21829393, 28219358, 28845025, 34074094, 3475693, 7615799, 8627148, 8852512
Graves Disease	Stimulate	1914236, 20675271
Hamartoma Syndrome Multiple	Associate	37361526
Hashimoto Disease	Associate	10520899, 10585396, 1379223, 16285898, 17459075, 20883148, 2242608, 25412700, 25719932, 27268232, 28845025, 30332318, 30926877, 40362783, 8603516, 9630202 View all (1 more)
Hashimoto's encephalitis	Associate	30012679, 31585887
Hearing Loss Sensorineural	Associate	21274344
Hepatitis E	Associate	31294534
Hypertension	Associate	29950118
Hypothyroidism	Associate	15613581, 16284446, 21490078, 24420335, 25403028, 25564141, 25719932, 26963610, 28500830, 32319661, 36835420, 37361526, 37780999
Hypothyroidism	Stimulate	29459556
Idiopathic Noncirrhotic Portal Hypertension	Stimulate	10583716
Inflammation	Associate	29143786
Insomnia Fatal Familial	Associate	30012679
Intellectual Disability	Associate	37780999
Kidney Diseases	Associate	34115025
Lipid Metabolism Disorders	Associate	38164867
Liver Cirrhosis	Associate	10583716
Lung Neoplasms	Associate	11571539
Lymphatic Metastasis	Inhibit	37407700
Lymphoma	Associate	21088137
Malnutrition	Associate	35059043
Meningitis Cryptococcal	Associate	34471065
Metabolism Inborn Errors	Associate	1401057
Neoplasms	Inhibit	11571539, 18212751
Neoplasms	Associate	1283926, 18031322, 18602667, 25933431, 33198784, 37208644, 38295322
Obesity	Associate	35059043
Obesity Maternal	Associate	28349935
Parkinson Disease	Associate	25125346
Pemphigus	Associate	26831096, 29675021
Pendred syndrome	Associate	21274344
Purpura Thrombocytopenic Idiopathic	Associate	27281793, 30885035, 37735543
Severe Acute Respiratory Syndrome	Associate	24518246
Status Asthmaticus	Associate	22947910
Subarachnoid Hemorrhage	Associate	32450902
Systemic Vasculitis	Associate	9246211
Thyroid Cancer Papillary	Associate	25922907, 26818109, 33198784, 36211409, 36465624, 37361526, 37407700, 39408960
Thyroid Carcinoma Anaplastic	Associate	34751390
Thyroid Diseases	Associate	24420335, 25719932, 29039351, 33600668, 38164867
Thyroid Dyshormonogenesis 1	Associate	15613581, 15745925, 25564141, 26831560, 26894573, 27173810, 27525530, 30022773, 30240412, 30915365, 34539567, 37699049
Thyroid Dyshormonogenesis 2A	Associate	15745925, 26777044, 37780999, 38295322
Thyroid Hormone Resistance Syndrome	Associate	16723809
Thyroid Neoplasms	Associate	11556840, 15196594, 16284446, 26818109, 27329729, 36737753, 37352166, 38295322
Thyroid Nodule	Associate	16478776, 18031322
Thyroiditis	Associate	11556840, 24114667, 25933431, 27852061, 28644858, 28845025, 33030666, 36207832, 38295322, 8617771
Thyroiditis Autoimmune	Associate	10585396, 11549579, 12385033, 1372592, 1379223, 1381722, 17334650, 22169789, 22309426, 22947910, 24114667, 26405068, 26405073, 27268232, 28845025 View all (8 more)
Thyroiditis Autoimmune	Stimulate	34115025
Ventricular Remodeling	Associate	29320567

TPO (thyroid peroxidase)