Gene
ghra
- ID
- ZDB-GENE-070509-1
- Name
- growth hormone receptor a
- Symbol
- ghra Nomenclature History
- Previous Names
-
- ghr
- zgc:162141
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have several functions, including growth factor binding activity; growth hormone receptor activity; and peptide hormone binding activity. Predicted to be involved in growth hormone receptor signaling pathway; positive regulation of peptidyl-tyrosine phosphorylation; and positive regulation of receptor signaling pathway via JAK-STAT. Predicted to localize to cytosol; external side of plasma membrane; and growth hormone 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 lens; liver; notochord; pleuroperitoneal region; and yolk. Orthologous to human GHR (growth hormone receptor).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 15 figures from 14 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 |
---|---|---|
Conserved_site | IPR003528 | Long hematopoietin receptor, single chain, conserved site |
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 | Long hematopoietin receptor, single chain, conserved site | Type I Cytokine Receptor |
---|---|---|---|---|---|---|---|---|
UniProtKB:A4IG30
|
570 |
Interactions and Pathways
Plasmids
No data available