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

Expression

All Expression Data

14 figures from 13 publications

Cross-Species Comparison

High Throughput Data

GEO (1)

Expression Atlas

UO scRNA-seq (UCSC browser)

Single Cell Expression Atlas

Thisse Expression Data

No data available

Wild Type Expression Summary

Phenotype

All Phenotype Data: No data available
Cross-Species Comparison: Alliance

Phenotype Summary

Mutations

Mutants

Sequence Targeting Reagents

Human Disease

Associated With ghra Human Ortholog

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

Associated With ghra Via Experimental Models

No data available

Gene Ontology

Protein Domains

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
Homologous_superfamily	IPR013783	Immunoglobulin-like fold
Homologous_superfamily	IPR036116	Fibronectin type III superfamily