Human Gene TSHR (ENST00000298171.7_4) from GENCODE V47lift37
Description: thyroid stimulating hormone receptor, transcript variant 1 (from RefSeq NM_000369.5)
Gencode Transcript: ENST00000298171.7_4
Gencode Gene: ENSG00000165409.18_9
Transcript (Including UTRs)
Position: hg19 chr14:81,421,965-81,612,650 Size: 190,686 Total Exon Count: 10 Strand: +
Coding Region
Position: hg19 chr14:81,422,025-81,610,697 Size: 188,673 Coding Exon Count: 10
Data last updated at UCSC: 2024-08-22 23:36:26
Sequence and Links to Tools and Databases
Primer design for this transcript
MalaCards Disease Associations
MalaCards Gene Search: TSHR
Diseases sorted by gene-association score: hypothyroidism, congenital, nongoitrous, 1 * (1670), hyperthyroidism, familial gestational * (1669), hyperthyroidism, nonautoimmune * (1650), familial hyperthyroidism due to mutations in tsh receptor * (400), hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia * (261), athyreosis * (260), visual epilepsy * (107), seizure disorder * (107), thyroid carcinoma with thyrotoxicosis * (100), hyperthyroidism (72), multinodular goiter (46), myxedema (46), hypothyroidism (44), graves' disease (35), neonatal thyrotoxicosis (32), goiter (23), exophthalmos (22), thyroiditis (19), hashimoto thyroiditis (16), thyroid cancer (16), chronic orbital inflammation (15), benign struma ovarii (15), autoimmune disease of endocrine system (14), thyroid gland disease (14), congenital hypothyroidism (12), subacute thyroiditis (12), nodular goiter (11), thyroid cancer, nonmedullary, 1 (11), thyroid cancer, nonmedullary, 2 (11), papillary carcinoma (11), endemic goiter (11), orbital plasma cell granuloma (10), graves disease 1 (10), nontoxic goiter (9), thymic hyperplasia (9), struma ovarii (8), neonatal hypothyroidism (8), orbital disease (8), follicular adenoma (6), toxic diffuse goiter (6), alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity (6), ovarian germ cell teratoma (6), thyrotoxic periodic paralysis (6), ethylmalonic encephalopathy (5), hypersensitivity reaction disease (5), hypersensitivity reaction type ii disease (4), differentiated thyroid carcinoma (3), eye disease (1), immune system disease (1)* = Manually curated disease association
Comparative Toxicogenomics Database (CTD)
Common Gene Haplotype Alleles
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RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
Microarray Expression Data
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mRNA Secondary Structure of 3' and 5' UTRs
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Descriptions from all associated GenBank mRNAs
AK303378 - Homo sapiens cDNA FLJ56543 complete cds, highly similar to Thyrotropin receptor precursor.BC024205 - Homo sapiens thyroid stimulating hormone receptor, mRNA (cDNA clone IMAGE:3030349), complete cds.M31774 - Human thyrotropin receptor (TSH) mRNA, complete cds.BC108653 - Homo sapiens thyroid stimulating hormone receptor, mRNA (cDNA clone IMAGE:3860072), complete cds.BC009237 - Homo sapiens thyroid stimulating hormone receptor, mRNA (cDNA clone IMAGE:2989823), complete cds.M73747 - Homo sapiens thyroid stimulating hormone receptor (TSHR) mRNA, complete cds.A34990 - H.sapiens TSH receptor.M32215 - Human thyroid stimulatory hormone receptor (TSHR) mRNA, complete cds.BC063613 - Homo sapiens thyroid stimulating hormone receptor, mRNA (cDNA clone IMAGE:3860379), complete cds.AB209207 - Homo sapiens mRNA for thyroid stimulating hormone receptor variant protein.BC120972 - Homo sapiens thyroid stimulating hormone receptor, mRNA (cDNA clone IMAGE:40115462), complete cds.BC120973 - Homo sapiens thyroid stimulating hormone receptor, mRNA (cDNA clone IMAGE:40115463), complete cds.BC141970 - Homo sapiens thyroid stimulating hormone receptor, mRNA (cDNA clone IMAGE:40115470), complete cds.BC127628 - Homo sapiens thyroid stimulating hormone receptor, mRNA (cDNA clone IMAGE:40115464), complete cds.BC127629 - Homo sapiens cDNA clone IMAGE:40115466, containing frame-shift errors.S49816 - thyrotropin receptor-I {alternatively spliced} [human, thyroid, mRNA, 793 nt].CU687778 - Synthetic construct Homo sapiens gateway clone IMAGE:100021590 5' read TSHR mRNA.S45272 - thyrotropin receptor [human, thyroid tissue, mRNA Partial Mutant, 1045 nt].AB384880 - Synthetic construct DNA, clone: pF1KB3965, Homo sapiens TSHR gene for thyrotropin receptor precursor, complete cds, without stop codon, in Flexi system.AY429111 - Homo sapiens thyroid stimulating hormone receptor mRNA, complete cds.BC156779 - Synthetic construct Homo sapiens clone IMAGE:100062266, MGC:190224 thyroid stimulating hormone receptor (TSHR) mRNA, encodes complete protein.HQ448048 - Synthetic construct Homo sapiens clone IMAGE:100071427; CCSB012039_02 thyroid stimulating hormone receptor (TSHR) gene, encodes complete protein.KJ892323 - Synthetic construct Homo sapiens clone ccsbBroadEn_01717 TSHR gene, encodes complete protein.KJ897710 - Synthetic construct Homo sapiens clone ccsbBroadEn_07104 TSHR gene, encodes complete protein.KR711103 - Synthetic construct Homo sapiens clone CCSBHm_00020319 TSHR (TSHR) mRNA, encodes complete protein.KR711104 - Synthetic construct Homo sapiens clone CCSBHm_00020321 TSHR (TSHR) mRNA, encodes complete protein.KR711105 - Synthetic construct Homo sapiens clone CCSBHm_00020323 TSHR (TSHR) mRNA, encodes complete protein.KR711106 - Synthetic construct Homo sapiens clone CCSBHm_00020326 TSHR (TSHR) mRNA, encodes complete protein.MB483350 - JP 2019528312-A/11: MRNA-MEDIATED IMMUNIZATION METHODS.JD544465 - Sequence 525489 from Patent EP1572962.AK095769 - Homo sapiens cDNA FLJ38450 fis, clone FEBRA2019457.AF035261 - Homo sapiens thyroid stimulating hormone receptor (TSHR) mRNA, partial cds.S82807 - thyrotropin receptor {3' region} [human, mRNA Partial, 1573 nt].
Other Names for This Gene
Alternate Gene Symbols: A0A0A0MTJ0, A0A0A0MTJ0_HUMAN, ENST00000298171.1, ENST00000298171.2, ENST00000298171.3, ENST00000298171.4, ENST00000298171.5, ENST00000298171.6, NM_000369, TSHR , uc317mdg.1, uc317mdg.2UCSC ID: ENST00000298171.7_4RefSeq Accession: NM_000369.5
Gene Model Information
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Methods, Credits, and Use Restrictions
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for details on how this gene model was made and data restrictions if any.