Gene: LOC101928462

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: TSHR

Alternate names for this Gene: CHNG1|LGR3|hTSHR-I

Gene Summary: The protein encoded by this gene is a membrane protein and a major controller of thyroid cell metabolism. The encoded protein is a receptor for thyrothropin and thyrostimulin, and its activity is mediated by adenylate cyclase. Defects in this gene are a cause of several types of hyperthyroidism. Three transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 14

Location in Chromosome : 14q31.1

Description of this Gene: thyroid stimulating hormone receptor

Type of Gene: protein-coding

rs2288493 in LOC101928462;TSHR gene and Antiphospholipid Syndrome PMID 28424481 2017 The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome.

rs189261858 in LOC101928462;TSHR gene and Congenital Hypothyroidism PMID 21714469 2010 Homozygous mutation R450H of the TSHR gene led to CH.

PMID 17526952 2006 Clinical significance of heterozygous carriers associated with compensated hypothyroidism in R450H, a common inactivating mutation of the thyrotropin receptor gene in Japanese.

PMID 19506388 2009 Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.

PMID 19158199 2009 In Japan, TSHR mutations are relatively common among patients with CH, and a founder mutation (p.R450H) accounts for about 70% of mutants.

PMID 23926367 2009 Genetic analysis in children with transient thyroid dysfunction or subclinical hypothyroidism detected on neonatal screening.

PMID 21677043 2011 Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

PMID 21707688 2011 Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.

PMID 11442002 2001 Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.

PMID 27637299 2016 The previously reported hotspot mutation p.R450H was found in only one SCH patient.

PMID 22405933 2012 The frequency of homozygous p.R450H in the CHT patients was 1.4% and that of heterozygous p.R450H was 5.6%.

PMID 28444304 2017 A frequent oligogenic involvement in congenital hypothyroidism.

PMID 27084275 2016 Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer.

PMID 24895636 2014 Frequency and clinical implication of the R450H mutation in the thyrotropin receptor gene in the Japanese population detected by Smart Amplification Process 2.

PMID 15693879 2005 Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.

PMID 28455095 2017 Next-generation sequencing of NKX2.1, FOXE1, PAX8, NKX2.5, and TSHR in 100 Chinese patients with congenital hypothyroidism and athyreosis.

PMID 26709262 2016 Seven different recurrent mutations [p.G488R (n=13), p.A649E (n=3), p.R885Q (n=3), p.I1080T (n=2), and p.A1206T (n=2) in DUOX2; p.Y138X (n=9) in DUOXA2; and p.R450H (n=5) in TSHR) were identified as the mutations underlying CH.

PMID 23404215 2013 The Italian screening program for primary congenital hypothyroidism: actions to improve screening, diagnosis, follow-up, and surveillance.

rs17111394 in LOC101928462;TSHR gene and Graves Disease PMID 21841780 2011 A genome-wide association study identifies two new risk loci for Graves' disease.

rs189261858 in LOC101928462;TSHR gene and HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1 PMID 21714469 2010 The R450H mutation and D727E polymorphism of the thyrotropin receptor gene in a Chinese child with congenital hypothyroidism.

PMID 19506388 2009 Longitudinal evaluation of patients with a homozygous R450H mutation of the TSH receptor gene.

PMID 15693879 2005 Subclinical hypothyroidism caused by a mutation of the thyrotropin receptor gene.

PMID 27637299 2016 Next-generation sequencing analysis of TSHR in 384 Chinese subclinical congenital hypothyroidism (CH) and CH patients.

PMID 11442002 2001 Novel inactivating missense mutations in the thyrotropin receptor gene in Japanese children with resistance to thyrotropin.

PMID 22405933 2012 R450H TSH receptor mutation in congenital hypothyroidism in Taiwanese children.

PMID 21707688 2011 Molecular screening of the TSH receptor (TSHR) and thyroid peroxidase (TPO) genes in Korean patients with nonsyndromic congenital hypothyroidism.

PMID 22876533 2012 TSHR is the main causative locus in autosomal recessively inherited thyroid dysgenesis.

PMID 21677043 2011 Nonclassic TSH resistance: TSHR mutation carriers with discrepantly high thyroidal iodine uptake.

rs17111396 in LOC101928462;TSHR gene and Uric acid measurement (procedure) PMID 21294900 2011 A genome-wide association study of serum uric acid in African Americans.