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 enable several functions, including growth factor binding activity; growth hormone receptor activity; and peptide hormone binding activity. Predicted to be involved in cell surface receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to be located in membrane. Predicted to be part of growth hormone receptor complex. Predicted to be active in cytosol and external side of plasma membrane. Is expressed in several structures, including muscle; nervous system; notochord; pleuroperitoneal region; and yolk. 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. 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