Gene
ghrb
- ID
- ZDB-GENE-071119-4
- Name
- growth hormone receptor b
- Symbol
- ghrb Nomenclature History
- Previous Names
- None
- Type
- protein_coding_gene
- Location
- Chr: 21 Mapping Details/Browsers
- Description
- Predicted to have cytokine binding activity; peptide hormone binding activity; and prolactin receptor activity. Predicted to localize to external side of plasma membrane and receptor complex. Human ortholog(s) of this gene implicated in several diseases, including Laron syndrome; familial hypercholesterolemia; isolated growth hormone deficiency; osteoarthritis; and type 2 diabetes mellitus. Is expressed in several structures, including muscle; nervous system; notochord; pleuroperitoneal region; and yolk. Orthologous to human GHR (growth hormone receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 11 figures from 10 publications
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| familial hypercholesterolemia | Alliance | {Hypercholesterolemia, familial, modifier of} | 143890 |
| Laron syndrome | Alliance | Laron dwarfism | 262500 |
| Growth hormone insensitivity, partial | 604271 | ||
| Increased responsiveness to growth hormone | 604271 |
Domain, Family, and Site Summary
| Type | InterPro ID | Name |
|---|---|---|
| Domain | IPR003961 | Fibronectin type III |
| Domain | IPR015152 | Growth hormone/erythropoietin receptor, ligand binding |
| Domain | IPR025871 | Growth hormone-binding protein |
| Family | IPR050379 | Type I Cytokine Receptor |
| Homologous_superfamily | IPR013783 | Immunoglobulin-like fold |
| Homologous_superfamily | IPR036116 | Fibronectin type III superfamily |
Domain Details Per Protein
| Protein | Length | Fibronectin type III | Fibronectin type III superfamily | Growth hormone-binding protein | Growth hormone/erythropoietin receptor, ligand binding | Immunoglobulin-like fold | Type I Cytokine Receptor |
|---|---|---|---|---|---|---|---|
|
UniProtKB:A8WH88
|
554 |
Interactions and Pathways
No data available
Plasmids
No data available