TRHR (thyrotropin releasing hormone receptor) - Rat Genome Database

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Gene: TRHR (thyrotropin releasing hormone receptor) Homo sapiens
Analyze
Symbol: TRHR
Name: thyrotropin releasing hormone receptor
RGD ID: 737056
HGNC Page HGNC
Description: Predicted to have thyrotropin-releasing hormone receptor activity. Predicted to be involved in phospholipase C-activating G protein-coupled receptor signaling pathway. Predicted to localize to integral component of plasma membrane. Implicated in congenital nongoitrous hypothyroidism 7 and hypertension.
Type: protein-coding
RefSeq Status: VALIDATED
Also known as: CHNG7; MGC141920; thyroliberin receptor; thyrotropin-releasing hormone receptor; TRH-R
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 Ensembl8109,086,585 - 109,121,565 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8109,086,621 - 109,119,584 (+)EnsemblGRCh38hg38GRCh38
GRCh388109,086,585 - 109,121,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378110,098,814 - 110,133,794 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368110,168,900 - 110,200,989 (+)NCBINCBI36hg18NCBI36
Build 348110,168,901 - 110,200,989NCBI
Celera8106,287,347 - 106,319,484 (+)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8105,421,383 - 105,453,868 (+)NCBIHuRef
CHM1_18110,139,931 - 110,172,069 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

Additional References at PubMed
PMID:7501234   PMID:7918619   PMID:8005602   PMID:8128317   PMID:8243797   PMID:8395824   PMID:8396925   PMID:8703031   PMID:8770906   PMID:9141550   PMID:9794253   PMID:9886052  
PMID:11278883   PMID:12023974   PMID:12393857   PMID:12477932   PMID:12805411   PMID:14599121   PMID:15117874   PMID:15489334   PMID:16020481   PMID:18724972   PMID:19086053   PMID:19268274  
PMID:19541745   PMID:19906838   PMID:20345371   PMID:21873635   PMID:22240728   PMID:23333304   PMID:23543262   PMID:26186194   PMID:28419241   PMID:28514442   PMID:29137494   PMID:32296183  


Genomics

Comparative Map Data
TRHR
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl8109,086,585 - 109,121,565 (+)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl8109,086,621 - 109,119,584 (+)EnsemblGRCh38hg38GRCh38
GRCh388109,086,585 - 109,121,565 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh378110,098,814 - 110,133,794 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 368110,168,900 - 110,200,989 (+)NCBINCBI36hg18NCBI36
Build 348110,168,901 - 110,200,989NCBI
Celera8106,287,347 - 106,319,484 (+)NCBI
Cytogenetic Map8q23.1NCBI
HuRef8105,421,383 - 105,453,868 (+)NCBIHuRef
CHM1_18110,139,931 - 110,172,069 (+)NCBICHM1_1
Trhr
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391544,059,314 - 44,099,308 (+)NCBIGRCm39mm39
GRCm39 Ensembl1544,059,531 - 44,099,308 (+)Ensembl
GRCm381544,195,924 - 44,235,912 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1544,196,135 - 44,235,912 (+)EnsemblGRCm38mm10GRCm38
MGSCv371544,027,681 - 44,067,458 (+)NCBIGRCm37mm9NCBIm37
MGSCv361544,026,307 - 44,065,986 (+)NCBImm8
Celera1544,658,539 - 44,700,386 (+)NCBICelera
Cytogenetic Map15B3.2NCBI
cM Map1516.82NCBI
Trhr
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2775,348,672 - 75,393,310 (+)NCBI
Rnor_6.0 Ensembl783,113,672 - 83,153,519 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0783,113,641 - 83,153,520 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.0783,121,134 - 83,161,215 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4780,050,671 - 80,095,991 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1780,071,435 - 80,116,717 (+)NCBI
Celera772,334,405 - 72,378,742 (+)NCBICelera
Cytogenetic Map7q31NCBI
Trhr
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541716,529,293 - 16,565,359 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541716,529,293 - 16,565,359 (+)NCBIChiLan1.0ChiLan1.0
TRHR
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.18107,886,593 - 107,918,825 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8107,886,593 - 107,918,825 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v08105,739,651 - 105,780,470 (+)NCBIMhudiblu_PPA_v0panPan3
TRHR
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1139,642,565 - 9,681,778 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl139,642,387 - 9,674,831 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha139,626,666 - 9,666,386 (+)NCBI
ROS_Cfam_1.0139,923,346 - 9,963,040 (+)NCBI
UMICH_Zoey_3.1139,666,106 - 9,705,368 (+)NCBI
UNSW_CanFamBas_1.0139,782,697 - 9,821,730 (+)NCBI
UU_Cfam_GSD_1.0139,871,822 - 9,911,555 (+)NCBI
Trhr
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530328,375,898 - 28,418,063 (-)NCBI
SpeTri2.0NW_00493647035,808,569 - 35,844,062 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRHR
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl428,436,758 - 28,482,893 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1428,480,637 - 28,482,031 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2430,819,213 - 31,155,972 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRHR
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18103,798,423 - 103,835,284 (+)NCBI
ChlSab1.1 Ensembl8103,800,175 - 103,831,628 (+)Ensembl
Trhr
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046247638,191,550 - 8,255,274 (+)NCBI

Position Markers
TRHR  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,099,763 - 110,099,916UniSTSGRCh37
Build 368110,168,939 - 110,169,092RGDNCBI36
Celera8106,287,434 - 106,287,587RGD
HuRef8105,421,493 - 105,421,646UniSTS
TRHR_3050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378110,131,330 - 110,131,950UniSTSGRCh37
Build 368110,200,506 - 110,201,126RGDNCBI36
Celera8106,319,001 - 106,319,621RGD
HuRef8105,453,385 - 105,454,005UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:149
Count of miRNA genes:75
Interacting mature miRNAs:78
Transcripts:ENST00000311762, ENST00000518632
Prediction methods:Miranda, 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 adipose tissue appendage
High
Medium 1
Low 5 253 14 21 3 247 2 9 48 6 12
Below cutoff 1052 1096 657 170 430 73 2394 1260 1247 73 646 849 99 735 1628

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000311762   ⟹   ENSP00000309818
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,087,424 - 109,119,584 (+)Ensembl
RefSeq Acc Id: ENST00000518632   ⟹   ENSP00000430711
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl8109,086,585 - 109,121,565 (+)Ensembl
RefSeq Acc Id: NM_003301   ⟹   NP_003292
RefSeq Status: VALIDATED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388109,086,585 - 109,121,565 (+)NCBI
GRCh378110,099,653 - 110,131,813 (+)NCBI
Build 368110,168,900 - 110,200,989 (+)NCBI Archive
HuRef8105,421,383 - 105,453,868 (+)NCBI
CHM1_18110,139,931 - 110,172,069 (+)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003292   ⟸   NM_003301
- UniProtKB: P34981 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000430711   ⟸   ENST00000518632
RefSeq Acc Id: ENSP00000309818   ⟸   ENST00000311762


Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003301.6(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) indel Hypothyroidism, congenital, nongoitrous, 7 [RCV000013518] Chr8:109087855..109087864 [GRCh38]
Chr8:110100084..110100093 [GRCh37]
Chr8:8q23.1
pathogenic|likely pathogenic
NM_003301.7(TRHR):c.49C>T (p.Arg17Ter) single nucleotide variant Hypothyroidism, congenital, nongoitrous, 7 [RCV000013519] Chr8:109087561 [GRCh38]
Chr8:110099790 [GRCh37]
Chr8:8q23.1
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:107356178-110913494)x3 copy number gain See cases [RCV000052185] Chr8:107356178..110913494 [GRCh38]
Chr8:108368406..111925723 [GRCh37]
Chr8:108437582..111994899 [NCBI36]
Chr8:8q23.1-23.2
uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
NM_003301.5(TRHR):c.966C>T (p.Leu322=) single nucleotide variant Malignant melanoma [RCV000068084] Chr8:109119224 [GRCh38]
Chr8:110131453 [GRCh37]
Chr8:110200629 [NCBI36]
Chr8:8q23.1
not provided
NM_003301.5(TRHR):c.981C>T (p.Phe327=) single nucleotide variant Malignant melanoma [RCV000068085] Chr8:109119239 [GRCh38]
Chr8:110131468 [GRCh37]
Chr8:110200644 [NCBI36]
Chr8:8q23.1
not provided
NM_003301.5(TRHR):c.837G>A (p.Trp279Ter) single nucleotide variant Malignant melanoma [RCV000061725] Chr8:109119095 [GRCh38]
Chr8:110131324 [GRCh37]
Chr8:110200500 [NCBI36]
Chr8:8q23.1
not provided
NM_003301.5(TRHR):c.1181C>T (p.Ser394Phe) single nucleotide variant Malignant melanoma [RCV000061726] Chr8:109119439 [GRCh38]
Chr8:110131668 [GRCh37]
Chr8:110200844 [NCBI36]
Chr8:8q23.1
not provided
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23
pathogenic|likely pathogenic
GRCh38/hg38 8q22.3-23.1(chr8:101171263-109127664)x1 copy number loss See cases [RCV000138134] Chr8:101171263..109127664 [GRCh38]
Chr8:102183491..110139893 [GRCh37]
Chr8:102252667..110209069 [NCBI36]
Chr8:8q22.3-23.1
pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3
pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3
pathogenic
GRCh38/hg38 8q23.1-23.2(chr8:108988194-109697085)x3 copy number gain See cases [RCV000142133] Chr8:108988194..109697085 [GRCh38]
Chr8:110000423..110709314 [GRCh37]
Chr8:110069599..110778490 [NCBI36]
Chr8:8q23.1-23.2
likely benign|uncertain significance
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3
pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3
pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3
pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q23.1-23.2(chr8:109214531-110868812)x3 copy number gain See cases [RCV000446663] Chr8:109214531..110868812 [GRCh37]
Chr8:8q23.1-23.2
uncertain significance
GRCh37/hg19 8q23.1-24.12(chr8:107032887-120742018)x1 copy number loss See cases [RCV000448650] Chr8:107032887..120742018 [GRCh37]
Chr8:8q23.1-24.12
pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3
pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3
pathogenic
GRCh37/hg19 8q23.1(chr8:109990022-110168343) copy number loss Abnormality of the eye [RCV000626545] Chr8:109990022..110168343 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q21.2-23.3(chr8:86841154-116518125)x3 copy number gain not provided [RCV000683045] Chr8:86841154..116518125 [GRCh37]
Chr8:8q21.2-23.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003301.7(TRHR):c.379A>G (p.Ile127Val) single nucleotide variant not provided [RCV000899284] Chr8:109087891 [GRCh38]
Chr8:110100120 [GRCh37]
Chr8:8q23.1
likely benign
NM_003301.7(TRHR):c.123A>G (p.Val41=) single nucleotide variant not provided [RCV000887419] Chr8:109087635 [GRCh38]
Chr8:110099864 [GRCh37]
Chr8:8q23.1
benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3
pathogenic
NM_003301.6(TRHR):c.242C>G (p.Pro81Arg) single nucleotide variant Hypothyroidism, congenital, nongoitrous, 7 [RCV000850109] Chr8:109087754 [GRCh38]
Chr8:110099983 [GRCh37]
Chr8:8q23.1
pathogenic|likely pathogenic
NM_003301.6(TRHR):c.392T>C (p.Ile131Thr) single nucleotide variant Hypothyroidism, congenital, nongoitrous, 7 [RCV000850110] Chr8:109087904 [GRCh38]
Chr8:110100133 [GRCh37]
Chr8:8q23.1
pathogenic
GRCh37/hg19 8q23.1(chr8:110059050-110132754)x1 copy number loss not provided [RCV000847480] Chr8:110059050..110132754 [GRCh37]
Chr8:8q23.1
pathogenic
GRCh37/hg19 8q22.3-23.3(chr8:104437051-114170843)x1 copy number loss not provided [RCV000847013] Chr8:104437051..114170843 [GRCh37]
Chr8:8q22.3-23.3
uncertain significance
NM_003301.7(TRHR):c.489G>A (p.Leu163=) single nucleotide variant not provided [RCV000975797] Chr8:109088001 [GRCh38]
Chr8:110100230 [GRCh37]
Chr8:8q23.1
likely benign
NM_003301.7(TRHR):c.1149T>C (p.Ser383=) single nucleotide variant not provided [RCV000898019] Chr8:109119407 [GRCh38]
Chr8:110131636 [GRCh37]
Chr8:8q23.1
benign
NM_003301.7(TRHR):c.1066G>A (p.Val356Ile) single nucleotide variant not provided [RCV000894484] Chr8:109119324 [GRCh38]
Chr8:110131553 [GRCh37]
Chr8:8q23.1
likely benign
GRCh37/hg19 8q23.1-23.2(chr8:109858221-110567774)x1 copy number loss not provided [RCV001006128] Chr8:109858221..110567774 [GRCh37]
Chr8:8q23.1-23.2
uncertain significance
GRCh37/hg19 8q23.1(chr8:109694757-110374218)x3 copy number gain not provided [RCV001259024] Chr8:109694757..110374218 [GRCh37]
Chr8:8q23.1
uncertain significance
GRCh37/hg19 8q23.1-24.13(chr8:108421573-123429638)x3 copy number gain not provided [RCV001259025] Chr8:108421573..123429638 [GRCh37]
Chr8:8q23.1-24.13
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12299 AgrOrtholog
COSMIC TRHR COSMIC
Ensembl Genes ENSG00000174417 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000309818 UniProtKB/Swiss-Prot
  ENSP00000430711 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000311762 UniProtKB/Swiss-Prot
  ENST00000518632 ENTREZGENE, UniProtKB/Swiss-Prot
GTEx ENSG00000174417 GTEx
HGNC ID HGNC:12299 ENTREZGENE
Human Proteome Map TRHR Human Proteome Map
InterPro GPCR_Rhodpsn UniProtKB/Swiss-Prot
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot
  TRH_rcpt_1 UniProtKB/Swiss-Prot
KEGG Report hsa:7201 UniProtKB/Swiss-Prot
NCBI Gene 7201 ENTREZGENE
OMIM 188545 OMIM
  618573 OMIM
PANTHER PTHR46061 UniProtKB/Swiss-Prot
Pfam 7tm_1 UniProtKB/Swiss-Prot
PharmGKB PA36979 PharmGKB
PRINTS GPCRRHODOPSN UniProtKB/Swiss-Prot
  THYROLIBRINR UniProtKB/Swiss-Prot
  TRHRFAMILY UniProtKB/Swiss-Prot
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot
UniProt P34981 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary Q2M339 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-10 TRHR  thyrotropin releasing hormone receptor  TRHR  thyrotropin-releasing hormone receptor  Symbol and/or name change 5135510 APPROVED