Gene
tshr
- ID
- ZDB-GENE-110524-4
- Name
- thyroid stimulating hormone receptor
- Symbol
- tshr Nomenclature History
- Previous Names
- Type
- protein_coding_gene
- Location
- Chr: 20 Mapping Details/Browsers
- Description
- Exhibits thyroid-stimulating hormone receptor activity. Involved in skeletal system development. Predicted to localize to integral component of plasma membrane. Used to study hyperthyroidism. Human ortholog(s) of this gene implicated in Graves' disease; cardiomyopathy; congenital nongoitrous hypothyroidism 1; and mitral valve prolapse. Is expressed in thyroid follicle and thyroid primordium. Orthologous to human TSHR (thyroid stimulating hormone receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 3 figures from 3 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| congenital nongoitrous hypothyroidism 1 | Alliance | Hypothyroidism, congenital, nongoitrous, 1 | 275200 |
| familial gestational hyperthyroidism | Alliance | Hyperthyroidism, familial gestational | 603373 |
| nonautoimmune hyperthyroidism | Alliance | Hyperthyroidism, nonautoimmune | 609152 |
| nonautoimmune hyperthyroidism | Alliance | Thyroid adenoma, hyperfunctioning, somatic | 609152 |
| nonautoimmune hyperthyroidism | Alliance | Thyroid carcinoma with thyrotoxicosis, somatic | 609152 |
| Human Disease | Fish | Conditions | Citations |
|---|---|---|---|
| hyperthyroidism | tshrb1071/b1071 | standard conditions | Hur et al., 2017 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR017452 | GPCR, rhodopsin-like, 7TM |
| Family | IPR000276 | G protein-coupled receptor, rhodopsin-like |
| Family | IPR002131 | Glycoprotein hormone receptor family |
| Family | IPR002274 | Thyrotropin receptor |
| Homologous_superfamily | IPR032675 | Leucine-rich repeat domain superfamily |
| Repeat | IPR001611 | Leucine-rich repeat |
| Repeat | IPR026906 | BspA-type LRR region |
Domain Details Per Protein
| Protein | Length | BspA-type LRR region | Glycoprotein hormone receptor family | GPCR, rhodopsin-like, 7TM | G protein-coupled receptor, rhodopsin-like | Leucine-rich repeat | Leucine-rich repeat domain superfamily | Thyrotropin receptor |
|---|---|---|---|---|---|---|---|---|
|
UniProtKB:C0SKM5
|
757 |
- Genome Browsers
Interactions and Pathways
No data available
Plasmids
No data available