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 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 act upstream of or within endocytosis. Predicted to be located in plasma 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 lens; liver; 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
Expression
All Expression Data
15 figures from 14 publications
Cross-Species Comparison
High Throughput Data
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
Allele Type Localization Consequence Mutagen Supplier
sa34437Allele with one point mutationUnknownPremature StopENU
sa34438Allele with one point mutationUnknownSplice SiteENU
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Sequence Targeting Reagents
No data available
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
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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
Family IPR050379 Type I Cytokine Receptor
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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
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Transcripts
Genome Browsers
Genome Build: GRCz11Chromosome: 8
Type Name Annotation Method Has Havana Data Length (nt) Analysis
mRNA ghra-201 (1) Ensembl 2,359 nt
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Interactions and Pathways
Antibodies
No data available
Plasmids
No data available
Constructs
Marker Relationships
Relationship Marker Type Marker Accession Numbers Citations
Contained inBACCH211-194C22
Contained inBACCH211-226F24
Contained inBACDKEY-46A10ZFIN Curated Data
EncodescDNAMGC:162141ZFIN Curated Data
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Sequences
Orthology
Comparative Orthology
Alliance
Gene Tree
Ensembl
Species Symbol Chromosome Accession # Evidence
HumanGHR5
Amino acid sequence comparison (4)
Conserved genome location (synteny) (2)
Nucleotide sequence comparison (1)
MouseGhr15
Conserved genome location (synteny) (1)
Amino acid sequence comparison (2)
Citations
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