Entrez ID
Entrez Gene ID - the GENE ID in NCBI Gene database.
|
7068
|
Gene name
Gene Name - the full gene name approved by the HGNC.
|
Thyroid hormone receptor beta |
Gene symbol
Gene Symbol - the official gene symbol approved by the HGNC.
|
THRB |
Synonyms (NCBI Gene)
Gene synonyms aliases
|
C-ERBA-2, C-ERBA-BETA, ERBA2, GRTH, NR1A2, PRTH, THR1, THRB1, THRB2, THRbeta, THRbeta1, TRb, TRbeta, TRbeta1, Thrbeta2 |
Disease Acronyms (UniProt)
Disease acronyms from UniProt database
|
PRTH |
Chromosome
Chromosome number
|
3 |
Chromosome location
Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
|
3p24.2 |
Summary
Summary of gene provided in NCBI Entrez Gene.
|
The protein encoded by this gene is a nuclear hormone receptor for triiodothyronine. It is one of the several receptors for thyroid hormone, and has been shown to mediate the biological activities of thyroid hormone. Knockout studies in mice suggest that |
SNP ID |
Visualize variation |
Clinical significance |
Consequence |
rs28933408 |
G>A,C,T |
Pathogenic |
Missense variant, coding sequence variant |
rs28999969 |
C>T |
Pathogenic, conflicting-interpretations-of-pathogenicity |
Intron variant, missense variant, coding sequence variant |
rs28999970 |
C>A,T |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
rs28999971 |
C>T |
Pathogenic |
Intron variant, missense variant, coding sequence variant |
rs121918686 |
C>A,G,T |
Pathogenic, likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
rs121918687 |
G>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121918688 |
C>G,T |
Pathogenic |
Missense variant, synonymous variant, intron variant, coding sequence variant |
rs121918690 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121918691 |
T>C |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs121918692 |
T>C |
Pathogenic |
Missense variant, coding sequence variant |
rs121918693 |
C>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs121918694 |
C>G,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs121918695 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121918696 |
G>A,T |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs121918697 |
G>A |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
rs121918698 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121918699 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs121918700 |
C>G |
Pathogenic |
Missense variant, coding sequence variant |
rs121918701 |
A>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121918702 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
rs121918703 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs121918704 |
A>G |
Pathogenic, likely-pathogenic |
Missense variant, coding sequence variant |
rs121918705 |
G>T |
Pathogenic |
Stop gained, coding sequence variant |
rs121918706 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121918707 |
G>A,C |
Pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs121918708 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs121918709 |
T>C |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
rs146617205 |
C>G,T |
Conflicting-interpretations-of-pathogenicity |
Intron variant |
rs367757240 |
G>A |
Pathogenic |
Coding sequence variant, missense variant |
rs387906515 |
GTG>- |
Pathogenic |
Inframe deletion, coding sequence variant, intron variant |
rs750905761 |
G>A,C |
Likely-pathogenic, pathogenic |
Coding sequence variant, missense variant |
rs1057519028 |
A>C,G |
Likely-pathogenic, uncertain-significance |
Missense variant, coding sequence variant |
rs1060499695 |
T>C |
Likely-pathogenic |
Intron variant, missense variant, coding sequence variant |
rs1354053223 |
A>C |
Pathogenic, uncertain-significance |
Intron variant, missense variant, coding sequence variant |
rs1553609090 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1553609119 |
->G |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553609152 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1553609157 |
C>A |
Likely-pathogenic |
Stop gained, coding sequence variant |
rs1553609167 |
TC>AT |
Pathogenic |
Stop gained, coding sequence variant |
rs1553609179 |
G>- |
Pathogenic |
Frameshift variant, coding sequence variant |
rs1553609185 |
A>C |
Pathogenic |
Missense variant, coding sequence variant |
rs1553609210 |
C>T |
Pathogenic |
Missense variant, coding sequence variant |
rs1553610974 |
C>T |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
rs1553610984 |
G>C |
Likely-pathogenic |
Missense variant, intron variant, coding sequence variant |
rs1553611038 |
G>T |
Pathogenic |
Missense variant, intron variant, coding sequence variant |
rs1553611075 |
G>A |
Pathogenic |
Missense variant, coding sequence variant |
rs1553611083 |
A>G |
Pathogenic |
Missense variant, coding sequence variant |
rs1553611094 |
T>A,C |
Pathogenic |
Missense variant, coding sequence variant |
rs1553613123 |
C>G |
Likely-pathogenic |
Missense variant, coding sequence variant |
|
Causal |
Disease term |
Disease name |
dbSNP ID |
References |
Atrial fibrillation |
Atrial Fibrillation |
rs120074192, rs121908590, rs121908593, rs121434558, rs587776851, rs387906612, rs387906613, rs387906614, rs387906615, rs199472687, rs199472705, rs199473324, rs587777336, rs587777339, rs587777557, rs587777558, rs587777559, rs587777560, rs886037778, rs769405762, rs770372675 View all (6 more) |
30061737, 29892015 |
Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder |
rs786205019 |
|
Hearing loss |
Sensorineural Hearing Loss (disorder) |
rs267607135, rs267606855, rs779841884, rs267606854, rs28942097, rs121908073, rs121908076, rs74315289, rs121908144, rs111033313, rs74315437, rs121908348, rs121908349, rs121908350, rs397515359, rs180177151, rs180177154, rs180177153, rs35689081, rs35887622, rs80338944, rs104894396, rs104894398, rs80338947, rs80338948, rs80338942, rs104894402, rs104894403, rs80338945, rs28931594, rs80338940, rs80338941, rs80356590, rs80338950, rs387906706, rs387906707, rs387906708, rs398122848, rs387907016, rs587776894, rs387907088, rs397515411, rs370965183, rs398122930, rs199897298, rs111033187, rs111033448, rs199606180, rs111033284, rs397516413, rs111033305, rs111033220, rs111033256, rs111033297, rs111033253, rs104894408, rs111033295, rs397516874, rs76434661, rs111033335, rs397517323, rs111033247, rs367928692, rs374793617, rs143939430, rs397515605, rs80338939, rs200656442, rs779748859, rs587781261, rs587781262, rs143343083, rs200147906, rs730880338, rs797044491, rs146281367, rs756484720, rs869025593, rs201306709, rs540895576, rs777777359, rs879255246, rs1554358720, rs142498437, rs377145777, rs1057517519, rs779077039, rs952741388, rs1060499797, rs764139009, rs1060499590, rs1064794012, rs1064797115, rs756790858, rs775633137, rs1554952443, rs1554952193, rs782063761, rs1199012623, rs756147087, rs1555648043, rs1555661490, rs1553196233, rs781546107, rs111033190, rs775428246, rs782539587, rs537227442, rs148695069, rs1554835827, rs953422571, rs1554834186, rs1554834161, rs1554835103, rs1554577339, rs1554577402, rs768471577, rs782279338, rs781951909, rs998045226, rs375759781, rs755804651, rs1557458426, rs767797828, rs538027448, rs1559366084, rs367688416, rs1558480402, rs1558490542, rs1559870857, rs1560690591, rs1561299289, rs1562817224, rs1562817529, rs1562822565, rs1562835391, rs1564113368, rs1564554255, rs773851192, rs1564555240, rs761261855, rs1564805114, rs1565522273, rs1565127413, rs781790246, rs1565430886, rs1565469959, rs746667217, rs1565819402, rs1565855932, rs150529554, rs1567939793, rs201866631, rs754472294, rs1559372512, rs1558464965, rs1558488902, rs775062249, rs1226171550, rs1561590396, rs765574676, rs762876554, rs757327146, rs1564949059, rs1565519673, rs368050948, rs1565541888, rs781989117, rs1565402473, rs750358148, rs1386887007, rs1209665716, rs1567641234, rs1237955948, rs1569042782, rs752672077, rs146689036, rs1560070780, rs149712664, rs1564556995, rs762226905, rs773573968, rs1568528171, rs1198256157, rs377267777, rs370564476, rs1577876794, rs747787770, rs759432278, rs1043716893, rs1581138934, rs2033773650, rs1421964916, rs771766431, rs780917129, rs1895773215, rs1895769400, rs761543680, rs1565920060 View all (184 more) |
|
Hyperthyroidism |
Hyperthyroidism |
rs121908861, rs121908864, rs121908874, rs121908875, rs121908876, rs121908877, rs121908873, rs121908880, rs121908883, rs121909258, rs6256, rs869312167 |
|
Hypothyroidism |
Hypothyroidism |
rs869320723, rs121908862, rs121908863, rs121908865, rs121908866, rs121908867, rs121908870, rs121908871, rs121908872, rs2140110277, rs121908881, rs121908884, rs121908885, rs786205080, rs1586182912, rs121917847, rs104893655, rs104893657, rs104893658, rs104893659, rs104893660, rs104893656, rs121917719, rs786204790, rs189261858, rs879255608, rs868197660, rs879255609, rs1586744173, rs1586182837, rs771222349, rs1587618417, rs1601844140, rs760832986, rs780982673, rs1603336347, rs1691155605 View all (22 more) |
|
Lung carcinoma |
Squamous cell carcinoma of lung |
rs1805076, rs121909071, rs121913530, rs112445441, rs121913529, rs121913535, rs121913297, rs121913279, rs104886003, rs397516975, rs11554290, rs121913364, rs121913351, rs121913369, rs121913355, rs121912470, rs121913273, rs121913281, rs121913348, rs727503093, rs121913353, rs397516890, rs397516896, rs121913378, rs397516897, rs397516977, rs397516978, rs397516979, rs397516980, rs397516981, rs397516982, rs121913240, rs17851045, rs397517086, rs121913428, rs397517094, rs397517098, rs397517106, rs121913465, rs397517108, rs397517111, rs397517112, rs397517114, rs397517116, rs1554350366, rs397517127, rs397517200, rs397517202, rs121913283, rs121913370, rs121913357, rs727503106, rs121913238, rs727503108, rs397517040, rs397516976, rs1555618025, rs1057519729, rs1584238193 View all (44 more) |
29924316 |
Myopia |
Myopia |
rs387907109, rs146936371, rs587776903, rs786205127, rs398122836, rs199624584, rs587777625, rs786205216, rs758872875, rs764211125, rs1135402746, rs765658563, rs1555941129, rs1555941116, rs199923805, rs782555528, rs1554862601, rs1586620121, rs1387950081, rs2051026773, rs1422332023 View all (6 more) |
27182965 |
Thyroid hormone resistance |
Generalized Thyroid Hormone Resistance, THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY, THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT, Thyroid Hormone Resistance Syndrome, Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
rs121918686, rs121918688, rs121918687, rs387906515, rs121918690, rs28999971, rs121918691, rs28933408, rs121918692, rs121918693, rs121918694, rs121918695, rs121918696, rs121918697, rs121918698, rs121918703, rs121918704, rs121918705, rs121918706, rs121918707, rs121918708, rs1057519028, rs1060499695, rs1553610984, rs1553609185, rs1553609090, rs1553609119, rs1553609152, rs1553609179, rs1553610974, rs1553611038, rs1553611075, rs1553611083, rs750905761, rs1553609167, rs1553609210 View all (21 more) |
24847459, 9349583, 10660344, 7528740, 8381821, 1846005, 12511610, 16804041, 1324420, 1619012, 8175986, 19268523, 1587388, 2153155, 8664910, 12554782, 7833659, 8889584, 2510172, 1314846, 8514853, 1563081, 1661299, 24393243 View all (9 more) |
|
Unknown |
Disease term |
Disease name |
Evidence |
References |
Source |
Paroxysmal atrial fibrillation |
Paroxysmal atrial fibrillation |
|
29892015, 30061737 |
ClinVar |
Thyroid Hormone Resistance |
thyroid hormone resistance, generalized, autosomal recessive |
|
|
GenCC |
Schizophrenia |
Schizophrenia |
|
|
GWAS |
Asthma |
Asthma |
|
|
GWAS |
Atrial Fibrillation |
Atrial Fibrillation |
|
|
GWAS |
Lung adenocarcinoma |
Lung adenocarcinoma |
Validation that loss of Tgfbr2 results in more aggressive and T cell-excluded KP lung tumors |
|
GWAS, CBGDA |
Colorectal Cancer |
Colorectal Cancer |
In summary, our data strongly demonstrated that upregulation of GRB7 conferred MEKi resistance in CRC cells with KRAS mutations by mediating RTK signaling through the recruitment of PLK1. |
|
GWAS, CBGDA |
Metabolic Syndrome |
Metabolic Syndrome |
|
|
GWAS |
Uterine Fibroids |
Uterine Fibroids |
|
|
GWAS |
Oligodendroglioma |
Oligodendroglioma |
|
|
GWAS |
|
Associations from Text Mining |
Disease Name |
Relationship Type |
References |
Abruptio Placentae |
Associate
|
30194050 |
Adrenal incidentaloma |
Associate
|
27758132 |
Alzheimer Disease |
Stimulate
|
24036060 |
Atrial Fibrillation |
Associate
|
36499571 |
Attention Deficit Disorder with Hyperactivity |
Associate
|
32505587 |
Breast Neoplasms |
Inhibit
|
31760908, 34534367 |
Breast Neoplasms |
Associate
|
31947762 |
Carcinogenesis |
Associate
|
31947762 |
Carcinoma Non Small Cell Lung |
Associate
|
22491060 |
Carcinoma Renal Cell |
Inhibit
|
24849932 |
Carcinoma Renal Cell |
Associate
|
29022645, 31746384 |
Cell Transformation Neoplastic |
Inhibit
|
31865591 |
Colorectal Neoplasms |
Associate
|
33034614 |
Congenital Hypothyroidism |
Associate
|
34969265 |
Disease |
Associate
|
2153155 |
Dyslipidemias |
Associate
|
36232568 |
Endometrial Neoplasms |
Associate
|
32894083 |
Esophageal Squamous Cell Carcinoma |
Associate
|
23136537 |
Fatty Liver |
Associate
|
33353459, 36232568, 39312733 |
Goiter |
Associate
|
10724359, 11518118, 24722129, 35850606 |
Growth Disorders |
Associate
|
37115071 |
Hashimoto Disease |
Associate
|
35850606 |
Heart Failure |
Associate
|
36499571 |
Hypercholesterolemia |
Associate
|
33333891 |
Hyperkinesis |
Associate
|
24722129 |
Hyperpituitarism |
Associate
|
11518118, 32733382 |
Hypertension |
Associate
|
36232568 |
Hypertension Pregnancy Induced |
Associate
|
30430796 |
Hypothyroidism |
Associate
|
27758132, 33333891 |
Hypothyroidism |
Stimulate
|
3197657 |
Kidney Neoplasms |
Associate
|
24849932, 29022645 |
Leukemia |
Associate
|
19430199 |
Leukopenia |
Associate
|
23136537 |
Liver Diseases |
Associate
|
37903863 |
Mesothelioma |
Associate
|
23626673 |
Mesothelioma Malignant |
Associate
|
23626673 |
Mood Disorders |
Associate
|
35748411 |
Neoplasm Metastasis |
Inhibit
|
31760908 |
Neoplasms |
Associate
|
18225562, 19430199, 20691260, 24849932, 28445515, 29047144, 32554601, 35256781 |
Neoplasms |
Inhibit
|
22491060, 29750276, 34534367, 36320063 |
Non alcoholic Fatty Liver Disease |
Inhibit
|
36311486 |
Obesity |
Associate
|
25622596, 36320063 |
Osteosarcoma |
Associate
|
35610231 |
Ovarian Neoplasms |
Associate
|
23202957, 35269838 |
Paralyses Familial Periodic |
Associate
|
26652765 |
Pituitary Diseases |
Associate
|
27758132, 29794730 |
Precursor Cell Lymphoblastic Leukemia Lymphoma |
Associate
|
19430199 |
Primary Myelofibrosis |
Associate
|
29047144 |
Pulmonary Edema |
Associate
|
36499571 |
Small Cell Lung Carcinoma |
Associate
|
2848257 |
Tachycardia |
Associate
|
24722129, 39620185 |
Thyroid Adenoma Hyperfunctioning |
Associate
|
10724359 |
Thyroid Cancer Papillary |
Associate
|
18225562, 21159845, 36722273 |
Thyroid Carcinoma Anaplastic |
Associate
|
32554601 |
Thyroid Carcinoma Anaplastic |
Inhibit
|
36939877 |
Thyroid Hormone Resistance Selective Pituitary |
Associate
|
21871106 |
Thyroid Hormone Resistance Syndrome |
Associate
|
10724359, 11518118, 15815068, 17596672, 18363280, 18561095, 1991834, 20444926, 20808683, 2153155, 21871106, 23633200, 23806029, 24722129, 2510172, 26652765, 26754848, 27758132, 27980311, 28557707, 28938413, 29794730, 30450533, 30817595, 31326901, 31432759, 31702019, 32217468, 32498666, 32505587, 32733382, 33126322, 33333891, 33353459, 33524107, 33751836, 34560890, 34969265, 35130567, 35748411, 35850606, 36232568, 36311486, 36499571, 37115071, 39327977, 39620185, 8381821, 8486789, 8514853, 9092799 View all (36 more) |
Thyroid Neoplasms |
Associate
|
18225562, 21159845, 27253998 |
Thyroiditis Autoimmune |
Associate
|
23806029 |
Triple Negative Breast Neoplasms |
Associate
|
25820519 |
Weight Gain |
Associate
|
30430796 |
|