THRA (thyroid hormone receptor alpha) - Rat Genome Database
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Gene: THRA (thyroid hormone receptor alpha) Homo sapiens
Analyze
Symbol: THRA
Name: thyroid hormone receptor alpha
RGD ID: 736295
HGNC Page HGNC
Description: Exhibits several functions, including TBP-class protein binding activity; nuclear receptor activity; and thyroid hormone binding activity. Involved in hormone-mediated signaling pathway; negative regulation of RNA polymerase II transcription preinitiation complex assembly; and transcription by RNA polymerase II. Localizes to cytosol and nucleus. Implicated in congenital nongoitrous hypothyroidism 6 and renal cell carcinoma. Biomarker of breast cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: AR7; avian erythroblastic leukemia viral (v-erb-a) oncogene homolog; c-ERBA-1; c-erbA-alpha; CHNG6; EAR-7; EAR7; ERB-T-1; ERBA; ERBA-related 7; ERBA1; MGC000261; MGC43240; NR1A1; nuclear receptor subfamily 1 group A member 1; THRA1; THRA2; thyroid hormone receptor alpha 1; thyroid hormone receptor, alpha; thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian); thyroid normone nuclear receptor alpha variant 1; triiodothyronine receptor; V-erbA-related protein 7
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1740,058,290 - 40,093,867 (+)EnsemblGRCh38hg38GRCh38
GRCh381740,062,193 - 40,093,867 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371738,218,446 - 38,250,120 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361735,472,589 - 35,503,646 (+)NCBINCBI36hg18NCBI36
Build 341735,472,588 - 35,499,815NCBI
Celera1734,878,512 - 34,910,230 (+)NCBI
Cytogenetic Map17q21.1NCBI
HuRef1734,012,227 - 34,043,856 (+)NCBIHuRef
CHM1_11738,454,163 - 38,485,823 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
(E)-thiamethoxam  (EXP)
(R)-lipoic acid  (ISO)
(S)-colchicine  (EXP)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-[(2,4-dichlorophenyl)methyl]-4-(2,4,4-trimethylpentan-2-yl)phenol  (ISO)
2-hydroxypropanoic acid  (EXP)
2-methoxyethanol  (ISO)
3,3',5'-triiodo-L-thyronine  (EXP)
3,3',5'-triiodothyronine  (EXP)
3,3',5,5'-tetrabromobisphenol A  (EXP,ISO)
3,3',5,5'-tetraiodothyroacetic acid  (EXP)
3,3',5-triiodo-L-thyronine  (EXP,ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4'-epidoxorubicin  (EXP)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxynon-2-enal  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (ISO)
[4-(4-HYDROXY-3-IODO-PHENOXY)-3,5-DIIODO-PHENYL]-ACETIC ACID  (EXP,ISO)
actinomycin D  (ISO)
adefovir pivoxil  (EXP)
aflatoxin B1  (ISO)
all-trans-retinoic acid  (EXP)
amiodarone  (EXP,ISO)
ammonium chloride  (EXP,ISO)
amsacrine  (EXP)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
antirheumatic drug  (EXP)
aprepitant  (EXP)
atrazine  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bexarotene  (EXP)
bezafibrate  (ISO)
bis(2-ethylhexyl) phthalate  (EXP,ISO)
bisphenol A  (EXP,ISO)
Bisphenol B  (ISO)
bisphenol F  (EXP,ISO)
bithionol  (ISO)
bortezomib  (EXP)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
calciol  (ISO)
camptothecin  (EXP)
carbon nanotube  (ISO)
casticin  (ISO)
chloroprene  (ISO)
chloroquine  (EXP)
chromium(6+)  (ISO)
ciglitazone  (ISO)
clomipramine  (EXP)
closantel  (ISO)
clozapine  (ISO)
cocaine  (ISO)
copper(II) sulfate  (EXP,ISO)
coumarin  (ISO)
crocidolite asbestos  (ISO)
daidzein  (EXP)
DDE  (ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (EXP)
diazinon  (ISO)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
diethyl hydrogen phosphate  (ISO)
diethylstilbestrol  (ISO)
digitoxin  (EXP)
diiodine  (ISO)
domperidone  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
dronedarone  (EXP,ISO)
elemental selenium  (ISO)
emetine  (EXP)
endosulfan  (ISO)
estriol  (ISO)
ethanol  (ISO)
fenpyroximate  (EXP)
fenvalerate  (ISO)
flavonoids  (ISO)
folic acid  (ISO)
genistein  (EXP)
glyphosate  (ISO)
haloperidol  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
isotretinoin  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
mebendazole  (EXP)
menadione  (EXP)
methylmercury chloride  (ISO)
microcystin-LR  (ISO)
mifepristone  (EXP)
mycophenolic acid  (EXP)
N-benzoyl-L-alanine  (EXP)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nebivolol  (EXP)
nickel atom  (EXP)
nitrofen  (EXP,ISO)
ozone  (ISO)
paracetamol  (ISO)
paraquat  (ISO)
pazopanib  (EXP)
PCB138  (EXP)
perfluorodecanoic acid  (EXP)
perfluorododecanoic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP,ISO)
perfluoroundecanoic acid  (EXP)
phenobarbital  (EXP)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
quercetin  (ISO)
rac-lactic acid  (EXP)
resveratrol  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
Soman  (ISO)
staurosporine  (EXP)
sulfasalazine  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
tegaserod  (EXP)
telithromycin  (EXP)
Temsirolimus  (EXP)
teniposide  (EXP)
Tetrachlorobisphenol A  (EXP)
tetrachloromethane  (ISO)
thiamethoxam  (EXP)
thiazolidinediones  (ISO)
thioacetamide  (ISO)
thyroxine  (EXP,ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
tungsten  (ISO)
valinomycin  (EXP)
valproic acid  (ISO)
vinclozolin  (ISO)
vincristine  (EXP)
vorinostat  (EXP)
wortmannin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
adrenal gland development  (ISO)
animal organ morphogenesis  (ISO)
brain development  (ISO)
cartilage condensation  (IEA)
cell differentiation  (IBA)
cytoplasmic sequestering of transcription factor  (ISO)
digestive tract development  (ISO)
embryonic organ development  (ISO)
erythrocyte differentiation  (IEA)
female courtship behavior  (IEA)
hormone-mediated signaling pathway  (IBA,IDA)
intracellular receptor signaling pathway  (IEA)
kidney development  (ISO)
learning or memory  (IEA)
liver development  (ISO)
lung development  (ISO)
negative regulation of DNA-binding transcription factor activity  (ISO)
negative regulation of DNA-templated transcription, initiation  (IDA)
negative regulation of RNA polymerase II transcription preinitiation complex assembly  (IDA)
negative regulation of transcription by RNA polymerase II  (IBA)
negative regulation of transcription, DNA-templated  (IDA)
ossification  (IEA)
positive regulation of cold-induced thermogenesis  (ISS)
positive regulation of female receptivity  (IEA)
positive regulation of myotube differentiation  (ISO)
positive regulation of transcription by RNA polymerase II  (IBA)
regulation of heart contraction  (IEA)
regulation of lipid catabolic process  (IEA)
regulation of myeloid cell apoptotic process  (IEA)
regulation of thyroid hormone mediated signaling pathway  (IEA)
regulation of transcription by RNA polymerase II  (IDA)
regulation of transcription, DNA-templated  (IEA)
response to cold  (IEA)
response to drug  (ISO)
response to nutrient levels  (ISO)
thyroid gland development  (IEA)
thyroid hormone mediated signaling pathway  (IBA)
transcription by RNA polymerase II  (IDA)
transcription initiation from RNA polymerase II promoter  (TAS)
type I pneumocyte differentiation  (IEA)

Cellular Component
chromatin  (ISA)
cytoplasm  (ISO)
cytosol  (IDA)
mitochondrion  (ISO)
nucleoplasm  (TAS)
nucleus  (IDA,IEA)

References

Additional References at PubMed
PMID:1307263   PMID:1314167   PMID:1331778   PMID:1517709   PMID:1537303   PMID:1584225   PMID:1850510   PMID:2464749   PMID:2539258   PMID:2710139   PMID:2879242   PMID:2879243  
PMID:3357890   PMID:3458521   PMID:3672126   PMID:3684612   PMID:6323162   PMID:7566114   PMID:7566127   PMID:7609079   PMID:7776974   PMID:8036737   PMID:8127707   PMID:8524305  
PMID:8537364   PMID:8616895   PMID:8650544   PMID:8710870   PMID:8806651   PMID:9115274   PMID:9256431   PMID:9267036   PMID:9268132   PMID:9405624   PMID:9415406   PMID:9440806  
PMID:9626662   PMID:9627117   PMID:9628876   PMID:9653119   PMID:9680361   PMID:9717844   PMID:9804773   PMID:9849963   PMID:10037764   PMID:10198638   PMID:10207062   PMID:10235266  
PMID:10379889   PMID:10409738   PMID:10480874   PMID:10490654   PMID:10508171   PMID:10567404   PMID:10610177   PMID:10681503   PMID:10691735   PMID:10733574   PMID:10744685   PMID:10847592  
PMID:10866662   PMID:10877839   PMID:10902817   PMID:10903152   PMID:10965896   PMID:11117530   PMID:11158331   PMID:11266503   PMID:11435616   PMID:11641275   PMID:11713274   PMID:11726557  
PMID:11861164   PMID:11889044   PMID:12048199   PMID:12138181   PMID:12231529   PMID:12371907   PMID:12388540   PMID:12477932   PMID:12805224   PMID:12871948   PMID:12874288   PMID:12878587  
PMID:14576168   PMID:14614212   PMID:14729678   PMID:15130509   PMID:15131262   PMID:15140878   PMID:15199063   PMID:15249124   PMID:15388935   PMID:15466465   PMID:15489334   PMID:15604093  
PMID:15674337   PMID:15757863   PMID:15767343   PMID:15802373   PMID:15808511   PMID:15941852   PMID:16219912   PMID:16595702   PMID:16781732   PMID:16799563   PMID:17065567   PMID:17220280  
PMID:17242407   PMID:17560756   PMID:17577579   PMID:17620012   PMID:17641689   PMID:17911173   PMID:18052923   PMID:18391015   PMID:18467449   PMID:18562675   PMID:18641393   PMID:18844476  
PMID:19144825   PMID:19158403   PMID:19274049   PMID:19360007   PMID:19422879   PMID:19427062   PMID:19453261   PMID:19519176   PMID:19628582   PMID:19730683   PMID:19819978   PMID:19853653  
PMID:19903799   PMID:19926848   PMID:20053725   PMID:20141582   PMID:20211142   PMID:20231357   PMID:20534741   PMID:20691434   PMID:20724312   PMID:20736347   PMID:21075170   PMID:21389087  
PMID:21508093   PMID:21516116   PMID:21529443   PMID:21622534   PMID:21652727   PMID:21654857   PMID:21738480   PMID:21868449   PMID:21873635   PMID:21988832   PMID:21997736   PMID:22224817  
PMID:22658674   PMID:22930759   PMID:23271024   PMID:23300972   PMID:23399772   PMID:23414517   PMID:23633213   PMID:23940126   PMID:24162265   PMID:24325866   PMID:24480136   PMID:24552590  
PMID:24673558   PMID:24914936   PMID:24969835   PMID:25079464   PMID:25416956   PMID:25501869   PMID:25542270   PMID:25670821   PMID:26029931   PMID:26514267   PMID:26585273   PMID:26715425  
PMID:26862156   PMID:27144938   PMID:27732649   PMID:28007906   PMID:28514442   PMID:28527577   PMID:28611215   PMID:28856816   PMID:31315768   PMID:31319097   PMID:31534055   PMID:31628250  
PMID:31753913   PMID:32242219   PMID:32296183   PMID:32694731  


Genomics

Comparative Map Data
THRA
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1740,058,290 - 40,093,867 (+)EnsemblGRCh38hg38GRCh38
GRCh381740,062,193 - 40,093,867 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371738,218,446 - 38,250,120 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361735,472,589 - 35,503,646 (+)NCBINCBI36hg18NCBI36
Build 341735,472,588 - 35,499,815NCBI
Celera1734,878,512 - 34,910,230 (+)NCBI
Cytogenetic Map17q21.1NCBI
HuRef1734,012,227 - 34,043,856 (+)NCBIHuRef
CHM1_11738,454,163 - 38,485,823 (+)NCBICHM1_1
Thra
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391198,631,539 - 98,659,832 (+)NCBIGRCm39mm39
GRCm381198,740,776 - 98,769,006 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1198,740,638 - 98,769,006 (+)EnsemblGRCm38mm10GRCm38
MGSCv371198,603,187 - 98,626,425 (+)NCBIGRCm37mm9NCBIm37
MGSCv361198,557,963 - 98,581,201 (+)NCBImm8
Celera11108,407,991 - 108,419,811 (+)NCBICelera
Cytogenetic Map11DNCBI
cM Map1162.58NCBI
Thra
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Rnor_6.01086,657,285 - 86,684,935 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1086,657,285 - 86,684,933 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01086,453,436 - 86,480,928 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41087,514,443 - 87,542,306 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11087,540,629 - 87,556,674 (+)NCBI
Celera1082,449,971 - 82,477,615 (+)NCBICelera
Cytogenetic Map10q31NCBI
RH 3.4 Map10839.79RGD
Thra
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545114,731,746 - 14,744,367 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545114,731,746 - 14,743,545 (+)NCBIChiLan1.0ChiLan1.0
THRA
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11717,420,186 - 17,448,502 (-)NCBIpanpan1.1PanPan1.1panPan2
Mhudiblu_PPA_v01717,196,459 - 17,226,263 (-)NCBIMhudiblu_PPA_v0panPan3
THRA
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1 Ensembl922,468,594 - 22,493,445 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1922,469,466 - 22,493,445 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
Thra
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
SpeTri2.0NW_00493649015,188,341 - 15,206,032 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
THRA
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1222,270,062 - 22,296,618 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11222,270,506 - 22,296,684 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21222,488,984 - 22,497,735 (+)NCBISscrofa10.2Sscrofa10.2susScr3
THRA
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11666,087,071 - 66,118,137 (-)NCBI
Thra
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247953,109,663 - 3,132,494 (-)NCBI

Position Markers
D17S1644E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371857,274,124 - 57,274,196UniSTSGRCh37
GRCh371738,249,963 - 38,250,035UniSTSGRCh37
Build 361735,503,489 - 35,503,561RGDNCBI36
Celera1853,992,186 - 53,992,258UniSTS
Celera1734,910,073 - 34,910,145RGD
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q11.2UniSTS
HuRef1853,983,549 - 53,983,621UniSTS
HuRef1734,043,699 - 34,043,771UniSTS
GDB:180966  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,245,903 - 38,246,244UniSTSGRCh37
Build 361735,499,429 - 35,499,770RGDNCBI36
Celera1734,906,025 - 34,906,366RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,039,651 - 34,039,992UniSTS
GDB:196130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,245,576 - 38,245,933UniSTSGRCh37
Build 361735,499,102 - 35,499,459RGDNCBI36
Celera1734,905,698 - 34,906,055RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,039,324 - 34,039,681UniSTS
AW259572  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,249,820 - 38,249,915UniSTSGRCh37
Build 361735,503,346 - 35,503,441RGDNCBI36
Celera1734,909,930 - 34,910,025RGD
SHGC-155386  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,223,584 - 38,223,857UniSTSGRCh37
Build 361735,477,110 - 35,477,383RGDNCBI36
Celera1734,883,634 - 34,883,907RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,017,324 - 34,017,597UniSTS
TNG Radiation Hybrid Map1717376.0UniSTS
SHGC-156300  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,218,071 - 38,218,363UniSTSGRCh37
Build 361735,471,597 - 35,471,889RGDNCBI36
Celera1734,878,137 - 34,878,429RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,011,852 - 34,012,144UniSTS
TNG Radiation Hybrid Map1717376.0UniSTS
PMC64989P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,245,473 - 38,245,727UniSTSGRCh37
Build 361735,498,999 - 35,499,253RGDNCBI36
Celera1734,905,595 - 34,905,849RGD
HuRef1734,039,221 - 34,039,475UniSTS
NR1D1_2626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,248,864 - 38,249,559UniSTSGRCh37
Build 361735,502,390 - 35,503,085RGDNCBI36
Celera1734,908,974 - 34,909,669RGD
HuRef1734,042,600 - 34,043,295UniSTS
THRA_2263  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,249,288 - 38,250,050UniSTSGRCh37
Build 361735,502,814 - 35,503,576RGDNCBI36
Celera1734,909,398 - 34,910,160RGD
HuRef1734,043,024 - 34,043,786UniSTS
RH110  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,249,802 - 38,249,913UniSTSGRCh37
Build 361735,503,328 - 35,503,439RGDNCBI36
Celera1734,909,912 - 34,910,023RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,043,538 - 34,043,649UniSTS
GeneMap99-GB4 RH Map17309.33UniSTS
NCBI RH Map17477.5UniSTS
D17S1979  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,245,822 - 38,246,021UniSTSGRCh37
Build 361735,499,348 - 35,499,547RGDNCBI36
Celera1734,905,944 - 34,906,143RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,039,570 - 34,039,769UniSTS
Stanford-G3 RH Map171513.0UniSTS
NCBI RH Map17494.3UniSTS
GeneMap99-G3 RH Map172014.0UniSTS
GDB:188665  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,247,398 - 38,247,568UniSTSGRCh37
Build 361735,500,924 - 35,501,094RGDNCBI36
Celera1734,907,520 - 34,907,678RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,041,146 - 34,041,304UniSTS
D17S2189  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,247,416 - 38,247,608UniSTSGRCh37
Build 361735,500,942 - 35,501,134RGDNCBI36
Celera1734,907,538 - 34,907,718RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,041,164 - 34,041,344UniSTS
D10S2160  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,249,754 - 38,250,101UniSTSGRCh37
Build 361735,503,280 - 35,503,627RGDNCBI36
Celera1734,909,864 - 34,910,211RGD
Cytogenetic Map17q11.2UniSTS
HuRef1734,043,490 - 34,043,837UniSTS
GeneMap99-GB4 RH Map10482.32UniSTS
Whitehead-RH Map10572.5UniSTS
NCBI RH Map101112.8UniSTS
GeneMap99-G3 RH Map171997.0UniSTS
MARC_26124-26125:1030369359:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,244,705 - 38,245,509UniSTSGRCh37
Build 361735,498,231 - 35,499,035RGDNCBI36
Celera1734,904,827 - 34,905,631RGD
HuRef1734,038,453 - 34,039,257UniSTS
MARC_5497-5498:996690469:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,249,505 - 38,250,253UniSTSGRCh37
Build 361735,503,031 - 35,503,779RGDNCBI36
Celera1734,909,615 - 34,910,363RGD
HuRef1734,043,241 - 34,043,989UniSTS
RH125185  
Human AssemblyChrPosition (strand)SourceJBrowse
HuRef1734,042,813 - 34,042,989UniSTS
PMC87157P2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,244,495 - 38,245,544UniSTSGRCh37
Celera1734,904,617 - 34,905,666UniSTS
HuRef1734,038,243 - 34,039,292UniSTS
THRA  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371738,240,189 - 38,241,058UniSTSGRCh37
Celera1734,900,311 - 34,901,180UniSTS
HuRef1734,033,937 - 34,034,806UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:5658
Count of miRNA genes:1159
Interacting mature miRNAs:1530
Transcripts:ENST00000264637, ENST00000394121, ENST00000450525, ENST00000546243, ENST00000577288, ENST00000577486, ENST00000577637, ENST00000578218, ENST00000584985, ENST00000585047
Prediction methods:Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2408 2118 1302 218 591 66 4242 2053 3728 340 1366 1529 166 1200 2779 2
Low 31 869 423 405 1350 398 115 144 6 78 94 84 9 1 4 9 4 2
Below cutoff 4 1 1 9 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190918 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001190919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_199334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB307686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC068669 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC102799 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF522368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290530 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035137 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ224043 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR541915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ692859 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  J03239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772678 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772679 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772680 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772682 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772683 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772685 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772686 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772687 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772694 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772695 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772697 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772698 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772701 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772703 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772704 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772705 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF772768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT584627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24748 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M24900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X55074 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000264637   ⟹   ENSP00000264637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,062,810 - 40,093,867 (+)Ensembl
RefSeq Acc Id: ENST00000394121   ⟹   ENSP00000377679
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,062,193 - 40,093,613 (+)Ensembl
RefSeq Acc Id: ENST00000450525   ⟹   ENSP00000395641
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,062,965 - 40,093,002 (+)Ensembl
RefSeq Acc Id: ENST00000546243   ⟹   ENSP00000443972
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,068,903 - 40,089,730 (+)Ensembl
RefSeq Acc Id: ENST00000577288   ⟹   ENSP00000464013
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,058,290 - 40,076,912 (+)Ensembl
RefSeq Acc Id: ENST00000577486   ⟹   ENSP00000464414
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,072,091 - 40,077,558 (+)Ensembl
RefSeq Acc Id: ENST00000577637
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,084,434 - 40,087,001 (+)Ensembl
RefSeq Acc Id: ENST00000578218   ⟹   ENSP00000464123
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,062,193 - 40,083,866 (+)Ensembl
RefSeq Acc Id: ENST00000584985   ⟹   ENSP00000463466
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,062,810 - 40,093,867 (+)Ensembl
RefSeq Acc Id: ENST00000585047   ⟹   ENSP00000462955
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1740,061,904 - 40,077,604 (+)Ensembl
RefSeq Acc Id: NM_001190918   ⟹   NP_001177847
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,062,965 - 40,093,867 (+)NCBI
GRCh371738,218,446 - 38,250,120 (+)ENTREZGENE
HuRef1734,012,227 - 34,043,856 (+)ENTREZGENE
CHM1_11738,454,774 - 38,485,823 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001190919   ⟹   NP_001177848
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,062,193 - 40,093,867 (+)NCBI
GRCh371738,218,446 - 38,250,120 (+)ENTREZGENE
HuRef1734,012,227 - 34,043,856 (+)ENTREZGENE
CHM1_11738,454,163 - 38,485,823 (+)NCBI
Sequence:
RefSeq Acc Id: NM_003250   ⟹   NP_003241
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,062,965 - 40,093,867 (+)NCBI
GRCh371738,218,446 - 38,250,120 (+)ENTREZGENE
Build 361735,472,686 - 35,503,646 (+)NCBI Archive
HuRef1734,012,227 - 34,043,856 (+)ENTREZGENE
CHM1_11738,454,774 - 38,485,823 (+)NCBI
Sequence:
RefSeq Acc Id: NM_199334   ⟹   NP_955366
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,062,965 - 40,093,002 (+)NCBI
GRCh371738,218,446 - 38,250,120 (+)ENTREZGENE
Build 361735,472,589 - 35,499,816 (+)NCBI Archive
HuRef1734,012,227 - 34,043,856 (+)ENTREZGENE
CHM1_11738,454,774 - 38,481,993 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001177847 (Get FASTA)   NCBI Sequence Viewer  
  NP_001177848 (Get FASTA)   NCBI Sequence Viewer  
  NP_003241 (Get FASTA)   NCBI Sequence Viewer  
  NP_955366 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA35783 (Get FASTA)   NCBI Sequence Viewer  
  AAA52333 (Get FASTA)   NCBI Sequence Viewer  
  AAA52334 (Get FASTA)   NCBI Sequence Viewer  
  AAA61176 (Get FASTA)   NCBI Sequence Viewer  
  AAA66021 (Get FASTA)   NCBI Sequence Viewer  
  AAH00261 (Get FASTA)   NCBI Sequence Viewer  
  AAH02728 (Get FASTA)   NCBI Sequence Viewer  
  AAH08851 (Get FASTA)   NCBI Sequence Viewer  
  AAH35137 (Get FASTA)   NCBI Sequence Viewer  
  AAM77692 (Get FASTA)   NCBI Sequence Viewer  
  ADZ17370 (Get FASTA)   NCBI Sequence Viewer  
  AIW04479 (Get FASTA)   NCBI Sequence Viewer  
  AIW04480 (Get FASTA)   NCBI Sequence Viewer  
  AIW04481 (Get FASTA)   NCBI Sequence Viewer  
  AIW04482 (Get FASTA)   NCBI Sequence Viewer  
  AIW04483 (Get FASTA)   NCBI Sequence Viewer  
  AIW04484 (Get FASTA)   NCBI Sequence Viewer  
  AIW04485 (Get FASTA)   NCBI Sequence Viewer  
  AIW04486 (Get FASTA)   NCBI Sequence Viewer  
  AIW04487 (Get FASTA)   NCBI Sequence Viewer  
  AIW04488 (Get FASTA)   NCBI Sequence Viewer  
  AIW04489 (Get FASTA)   NCBI Sequence Viewer  
  AIW04490 (Get FASTA)   NCBI Sequence Viewer  
  AIW04491 (Get FASTA)   NCBI Sequence Viewer  
  AIW04492 (Get FASTA)   NCBI Sequence Viewer  
  AIW04493 (Get FASTA)   NCBI Sequence Viewer  
  AIW04494 (Get FASTA)   NCBI Sequence Viewer  
  AIW04495 (Get FASTA)   NCBI Sequence Viewer  
  AIW04496 (Get FASTA)   NCBI Sequence Viewer  
  AIW04497 (Get FASTA)   NCBI Sequence Viewer  
  AIW04498 (Get FASTA)   NCBI Sequence Viewer  
  AIW04499 (Get FASTA)   NCBI Sequence Viewer  
  AIW04500 (Get FASTA)   NCBI Sequence Viewer  
  AIW04501 (Get FASTA)   NCBI Sequence Viewer  
  AIW04502 (Get FASTA)   NCBI Sequence Viewer  
  AIW04503 (Get FASTA)   NCBI Sequence Viewer  
  AIW04504 (Get FASTA)   NCBI Sequence Viewer  
  AIW04505 (Get FASTA)   NCBI Sequence Viewer  
  AIW04506 (Get FASTA)   NCBI Sequence Viewer  
  AIW04507 (Get FASTA)   NCBI Sequence Viewer  
  AIW04508 (Get FASTA)   NCBI Sequence Viewer  
  AIW04568 (Get FASTA)   NCBI Sequence Viewer  
  BAD92583 (Get FASTA)   NCBI Sequence Viewer  
  BAF82760 (Get FASTA)   NCBI Sequence Viewer  
  BAF83219 (Get FASTA)   NCBI Sequence Viewer  
  BAH02277 (Get FASTA)   NCBI Sequence Viewer  
  CAA38749 (Get FASTA)   NCBI Sequence Viewer  
  CAA38899 (Get FASTA)   NCBI Sequence Viewer  
  CAA68539 (Get FASTA)   NCBI Sequence Viewer  
  CAB57886 (Get FASTA)   NCBI Sequence Viewer  
  CAG46713 (Get FASTA)   NCBI Sequence Viewer  
  EAW60632 (Get FASTA)   NCBI Sequence Viewer  
  EAW60633 (Get FASTA)   NCBI Sequence Viewer  
  EAW60634 (Get FASTA)   NCBI Sequence Viewer  
  P10827 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001177848   ⟸   NM_001190919
- Peptide Label: isoform 2
- UniProtKB: P10827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003241   ⟸   NM_003250
- Peptide Label: isoform 2
- UniProtKB: P10827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001177847   ⟸   NM_001190918
- Peptide Label: isoform 3
- UniProtKB: P10827 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_955366   ⟸   NM_199334
- Peptide Label: isoform 1
- UniProtKB: P10827 (UniProtKB/Swiss-Prot),   Q6FH41 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000395641   ⟸   ENST00000450525
RefSeq Acc Id: ENSP00000463466   ⟸   ENST00000584985
RefSeq Acc Id: ENSP00000443972   ⟸   ENST00000546243
RefSeq Acc Id: ENSP00000462955   ⟸   ENST00000585047
RefSeq Acc Id: ENSP00000464013   ⟸   ENST00000577288
RefSeq Acc Id: ENSP00000464414   ⟸   ENST00000577486
RefSeq Acc Id: ENSP00000464123   ⟸   ENST00000578218
RefSeq Acc Id: ENSP00000377679   ⟸   ENST00000394121
RefSeq Acc Id: ENSP00000264637   ⟸   ENST00000264637
Protein Domains
NR LBD   Nuclear receptor

Promoters
RGD ID:6794614
Promoter ID:HG_KWN:26030
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000394121,   OTTHUMT00000257160,   UC002HTX.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361735,472,716 - 35,473,216 (+)MPROMDB
RGD ID:6811368
Promoter ID:HG_ACW:34395
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Lymphoblastoid
Transcripts:THRA.EAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361735,478,496 - 35,478,996 (+)MPROMDB
RGD ID:7234893
Promoter ID:EPDNEW_H23192
Type:initiation region
Name:THRA_2
Description:thyroid hormone receptor, alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23193  EPDNEW_H23194  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,062,829 - 40,062,889EPDNEW
RGD ID:7234895
Promoter ID:EPDNEW_H23193
Type:initiation region
Name:THRA_1
Description:thyroid hormone receptor, alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23192  EPDNEW_H23194  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,062,965 - 40,063,025EPDNEW
RGD ID:7234899
Promoter ID:EPDNEW_H23194
Type:initiation region
Name:THRA_3
Description:thyroid hormone receptor, alpha
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23192  EPDNEW_H23193  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381740,074,426 - 40,074,486EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3 copy number gain See cases [RCV000050957] Chr17:36449220..68170214 [GRCh38]
Chr17:48563237..65936105 [GRCh37]
Chr17:45918236..63677950 [NCBI36]
Chr17:17q21.33-24.2
pathogenic
NM_001190919.1(THRA):c.134G>T (p.Ser45Ile) single nucleotide variant Hypothyroidism, congenital, nongoitrous, 6 [RCV000022800] Chr17:40077520 [GRCh38]
Chr17:38233773 [GRCh37]
Chr17:17q21.1
pathogenic
NM_001190919.1(THRA):c.1110G>C (p.Lys370Asn) single nucleotide variant Hypothyroidism, congenital, nongoitrous, 6 [RCV000022801] Chr17:40089333 [GRCh38]
Chr17:38245586 [GRCh37]
Chr17:17q21.1
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3 copy number gain See cases [RCV000052479] Chr17:39199873..45629579 [GRCh38]
Chr17:37356126..43706945 [GRCh37]
Chr17:34609652..41062728 [NCBI36]
Chr17:17q12-21.31
pathogenic
NM_001190919.1(THRA):c.728C>T (p.Pro243Leu) single nucleotide variant Malignant melanoma [RCV000071446] Chr17:40088246 [GRCh38]
Chr17:38244499 [GRCh37]
Chr17:35498025 [NCBI36]
Chr17:17q21.1
not provided
NM_001190919.1(THRA):c.1094C>T (p.Pro365Leu) single nucleotide variant Malignant melanoma [RCV000071447] Chr17:40089317 [GRCh38]
Chr17:38245570 [GRCh37]
Chr17:35499096 [NCBI36]
Chr17:17q21.1
not provided
NM_001190919.1(THRA):c.1110+66C>A single nucleotide variant Hypothyroidism, congenital, nongoitrous, 6 [RCV000172853] Chr17:40089399 [GRCh38]
Chr17:38245652 [GRCh37]
Chr17:17q21.1
pathogenic
NM_001190919.1(THRA):c.1110+97G>A single nucleotide variant Hypothyroidism, congenital, nongoitrous, 6 [RCV000172854] Chr17:40089430 [GRCh38]
Chr17:38245683 [GRCh37]
Chr17:17q21.1
pathogenic
NM_001190919.1(THRA):c.1110+83C>G single nucleotide variant Hypothyroidism, congenital, nongoitrous, 6 [RCV000172855] Chr17:40089416 [GRCh38]
Chr17:38245669 [GRCh37]
Chr17:17q21.1
pathogenic
GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3 copy number gain See cases [RCV000137437] Chr17:36449220..75053130 [GRCh38]
Chr17:57595736..73049225 [GRCh37]
Chr17:54950518..70560820 [NCBI36]
Chr17:17q23.1-25.1
pathogenic
NM_001190919.1(THRA):c.738C>T (p.Asp246=) single nucleotide variant not provided [RCV000900159]|not specified [RCV000241647] Chr17:40088256 [GRCh38]
Chr17:38244509 [GRCh37]
Chr17:17q21.1
benign
NM_003250.6(THRA):c.351C>T (p.Ala117=) single nucleotide variant not specified [RCV000249881] Chr17:40083963 [GRCh38]
Chr17:38240216 [GRCh37]
Chr17:17q21.1
benign
NM_021724.5(NR1D1):c.1653G>A (p.Ser551=) single nucleotide variant Hypothyroidism, congenital, nongoitrous, 6 [RCV000490316] Chr17:40093275 [GRCh38]
Chr17:38249528 [GRCh37]
Chr17:17q21.1
uncertain significance
NM_001190919.1(THRA):c.577-4C>T single nucleotide variant not provided [RCV000899603]|not specified [RCV000504329] Chr17:40086703 [GRCh38]
Chr17:38242956 [GRCh37]
Chr17:17q21.1
benign|uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
NM_003250.6(THRA):c.788C>T (p.Ala263Val) single nucleotide variant Inborn genetic diseases [RCV000623448] Chr17:40088306 [GRCh38]
Chr17:38244559 [GRCh37]
Chr17:17q21.1
likely pathogenic
NM_001190919.1(THRA):c.1110+27del deletion Inborn genetic diseases [RCV000623956] Chr17:40089359 [GRCh38]
Chr17:38245612 [GRCh37]
Chr17:17q21.1
pathogenic
NM_001190919.1(THRA):c.54-1G>A single nucleotide variant Hypothyroidism, congenital, nongoitrous, 6 [RCV000680127]|not provided [RCV000896249] Chr17:40076870 [GRCh38]
Chr17:38233123 [GRCh37]
Chr17:17q21.1
pathogenic|benign
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3
pathogenic
GRCh37/hg19 17q21.1(chr17:38223191-38343459)x3 copy number gain not provided [RCV000752038] Chr17:38223191..38343459 [GRCh37]
Chr17:17q21.1
benign
NM_199334.5(THRA):c.150C>T (p.Asp50=) single nucleotide variant not provided [RCV000921344] Chr17:40077536 [GRCh38]
Chr17:38233789 [GRCh37]
Chr17:17q21.1
likely benign
NM_199334.5(THRA):c.1200C>T (p.Leu400=) single nucleotide variant not provided [RCV000975401] Chr17:40089423 [GRCh38]
Chr17:38245676 [GRCh37]
Chr17:17q21.1
likely benign
NM_199334.5(THRA):c.1197A>G (p.Pro399=) single nucleotide variant not provided [RCV000938839] Chr17:40089420 [GRCh38]
Chr17:38245673 [GRCh37]
Chr17:17q21.1
likely benign
NM_199334.5(THRA):c.850C>A (p.Arg284=) single nucleotide variant not provided [RCV000898619] Chr17:40088368 [GRCh38]
Chr17:38244621 [GRCh37]
Chr17:17q21.1
likely benign
NM_199334.5(THRA):c.870C>T (p.Gly290=) single nucleotide variant not provided [RCV000966251] Chr17:40088388 [GRCh38]
Chr17:38244641 [GRCh37]
Chr17:17q21.1
benign
NM_199334.5(THRA):c.508A>G (p.Ile170Val) single nucleotide variant not provided [RCV000914085] Chr17:40084747 [GRCh38]
Chr17:38241000 [GRCh37]
Chr17:17q21.1
benign
NM_199334.5(THRA):c.425G>T (p.Arg142Leu) single nucleotide variant Hypothyroidism, congenital, nongoitrous, 6 [RCV000989846] Chr17:40084664 [GRCh38]
Chr17:38240917 [GRCh37]
Chr17:17q21.1
uncertain significance
NM_199334.5(THRA):c.441G>A (p.Lys147=) single nucleotide variant not provided [RCV000915637] Chr17:40084680 [GRCh38]
Chr17:38240933 [GRCh37]
Chr17:17q21.1
likely benign
NM_199334.5(THRA):c.720C>T (p.Ser240=) single nucleotide variant not provided [RCV000961487] Chr17:40086850 [GRCh38]
Chr17:38243103 [GRCh37]
Chr17:17q21.1
benign
NM_199334.5(THRA):c.223-5C>G single nucleotide variant not provided [RCV000897199] Chr17:40083830 [GRCh38]
Chr17:38240083 [GRCh37]
Chr17:17q21.1
benign
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3 copy number gain not provided [RCV000846852] Chr17:21690653..38772647 [GRCh37]
Chr17:17p11.2-q21.2
pathogenic
NM_199334.5(THRA):c.223-8C>T single nucleotide variant not provided [RCV000962517] Chr17:40083827 [GRCh38]
Chr17:38240080 [GRCh37]
Chr17:17q21.1
benign
NM_199334.5(THRA):c.641C>G (p.Ala214Gly) single nucleotide variant not provided [RCV001051253] Chr17:40086771 [GRCh38]
Chr17:38243024 [GRCh37]
Chr17:17q21.1
likely pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11796 AgrOrtholog
COSMIC THRA COSMIC
Ensembl Genes ENSG00000126351 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000264637 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000377679 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000395641 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000443972 UniProtKB/Swiss-Prot
  ENSP00000462955 UniProtKB/TrEMBL
  ENSP00000463466 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464013 UniProtKB/TrEMBL
  ENSP00000464123 UniProtKB/TrEMBL
  ENSP00000464414 UniProtKB/TrEMBL
Ensembl Transcript ENST00000264637 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000394121 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000450525 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000546243 UniProtKB/Swiss-Prot
  ENST00000577288 UniProtKB/TrEMBL
  ENST00000577486 UniProtKB/TrEMBL
  ENST00000578218 UniProtKB/TrEMBL
  ENST00000584985 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000585047 UniProtKB/TrEMBL
Gene3D-CATH 1.10.565.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.50.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000126351 GTEx
HGNC ID HGNC:11796 ENTREZGENE
Human Proteome Map THRA Human Proteome Map
InterPro NHR-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucl_hrmn_rcpt_lig-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nuclear_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ThyrH_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_hrmn_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_NHR/GATA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7067 UniProtKB/Swiss-Prot
NCBI Gene 7067 ENTREZGENE
OMIM 190120 OMIM
  614450 OMIM
Pfam Hormone_recep UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  zf-C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36507 PharmGKB
PRINTS STRDHORMONER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  STROIDFINGER UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THYROIDHORMR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE NR_LBD UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NUCLEAR_REC_DBD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART HOLI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ZnF_C4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48508 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0R5RI31_HUMAN UniProtKB/TrEMBL
  A0A0R5RI36_HUMAN UniProtKB/TrEMBL
  A0A0R5RI44_HUMAN UniProtKB/TrEMBL
  A0A0R5RI47_HUMAN UniProtKB/TrEMBL
  A0A0R5RI63_HUMAN UniProtKB/TrEMBL
  J3KTF3_HUMAN UniProtKB/TrEMBL
  J3QR26_HUMAN UniProtKB/TrEMBL
  J3QRA9_HUMAN UniProtKB/TrEMBL
  J3QRW5_HUMAN UniProtKB/TrEMBL
  P10827 ENTREZGENE
  Q6FH41 ENTREZGENE, UniProtKB/TrEMBL
  THA_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8K3B5 UniProtKB/Swiss-Prot
  P21205 UniProtKB/Swiss-Prot
  Q8N6A1 UniProtKB/Swiss-Prot
  Q96H73 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-02-06 THRA  thyroid hormone receptor alpha  THRA  thyroid hormone receptor, alpha  Symbol and/or name change 5135510 APPROVED
2011-07-27 THRA  thyroid hormone receptor, alpha  THRA  thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)  Symbol and/or name change 5135510 APPROVED