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Gene: GHR (growth hormone receptor) Homo sapiens
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Symbol: GHR
Name: growth hormone receptor
Description: This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature. In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jun 2011]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: GH receptor; GHBP; GHIP; growth hormone binding protein; serum binding protein; somatotropin receptor
Orthologs:
Mus musculus (house mouse) : Ghr (growth hormone receptor)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ghr (growth hormone receptor)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ghr (growth hormone receptor)
Pan paniscus (bonobo/pygmy chimpanzee) : GHR (growth hormone receptor)
Canis lupus familiaris (dog) : GHR (growth hormone receptor)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ghr (growth hormone receptor)
Sus scrofa (pig) : GHR (growth hormone receptor)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38542,423,775 - 42,721,878 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh37542,423,577 - 42,721,980 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36542,459,783 - 42,757,683 (+)NCBINCBI36hg18NCBI36
Build 34542,459,782 - 42,757,682NCBI
Celera542,314,115 - 42,611,474 (+)NCBI
Cytogenetic Map5p13.1-p12NCBI
HuRef542,375,464 - 42,673,429 (+)NCBIHuRef
CHM1_1542,425,901 - 42,723,964 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
 
More on GHR
Alliance Gene
NCBI Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

CRRD Object Information
CRRD ID: 69149
Created: 2001-11-08
Species: Homo sapiens
Last Modified: 2019-07-09
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.