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Gene : GHR Homo sapiens

Name  ? growth hormone receptor Cytological Location  5p13.1-p12
Brief Description  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]
  • synonyms:
  • OTTHUMG00000094791,
  • uc003jmt.4,
  • growth hormone binding protein,
  • GHBP,
  • GHR,
  • GHIP,
  • NM_000163,
  • HGNC:4263,
  • GHBP
  • identifiers:
  • 2690,
  • ENSG00000112964,
  • GHR

Genome feature

Region: gene ? Length: 298440  
Location: 5:42423439-42721878 Cyto location: 5p13.1-p12


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

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SNPs

Gene Report --> GWAS hit

Disease

3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

Gene(s) --> Significant SNPs (GTex data)

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Other

3753 SN Ps

5 Cross References

20 Data Sets

5 Homologues

0 Located Features

97 Rna Seq Results