Seroatlas · Human Serome Atlas

GHR

Growth hormone receptor

Also known as: GHBP, GHR_HUMAN

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession
P10912
Gene
GHR
Ensembl
ENSG00000112964
Chromosome
5
Canonical length
638 aa
Protein class
Disease related genes, FDA approved drug targets, Human disease related genes, Predicted membrane proteins, Predicted secreted proteins
Subcellular location
Plasma membrane,Cytosol,Cytoplasmic bodies
Secretome location
Secreted to blood
Quaternary structure
Homodimer

OverviewNCBI Gene

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]

Canonical amino-acid sequenceUniProt

638 residues, UniProt reviewed canonical sequence.

>P10912|GHR
     1  MDLWQLLLTL ALAGSSDAFS GSEATAAILS RAPWSLQSVN PGLKTNSSKE PKFTKCRSPE
    61  RETFSCHWTD EVHHGTKNLG PIQLFYTRRN TQEWTQEWKE CPDYVSAGEN SCYFNSSFTS
   121  IWIPYCIKLT SNGGTVDEKC FSVDEIVQPD PPIALNWTLL NVSLTGIHAD IQVRWEAPRN
   181  ADIQKGWMVL EYELQYKEVN ETKWKMMDPI LTTSVPVYSL KVDKEYEVRV RSKQRNSGNY
   241  GEFSEVLYVT LPQMSQFTCE EDFYFPWLLI IIFGIFGLTV MLFVFLFSKQ QRIKMLILPP
   301  VPVPKIKGID PDLLKEGKLE EVNTILAIHD SYKPEFHSDD SWVEFIELDI DEPDEKTEES
   361  DTDRLLSSDH EKSHSNLGVK DGDSGRTSCC EPDILETDFN ANDIHEGTSE VAQPQRLKGE
   421  ADLLCLDQKN QNNSPYHDAC PATQQPSVIQ AEKNKPQPLP TEGAESTHQA AHIQLSNPSS
   481  LSNIDFYAQV SDITPAGSVV LSPGQKNKAG MSQCDMHPEM VSLCQENFLM DNAYFCEADA
   541  KKCIPVAPHI KVESHIQPSL NQEDIYITTE SLTTAAGRPG TGEHVPGSEM PVPDYTSIHI
   601  VQSPQGLILN ATALPLPDKE FLSSCGYVST DQLNKIMP

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against GHR can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability
Cell surface
Secreted
No
Transmembrane segments
1
Mean surface accessibility (rSASA)
0.55
Highest tissue expression
200 nTPM

Expression across tissuesHPA

Tissue

  • liver: 200 nTPM
  • adipose tissue: 80 nTPM
  • skeletal muscle: 43 nTPM
  • breast: 30 nTPM
  • kidney: 11 nTPM
  • tongue: 11 nTPM

Single-cell type

  • adipocytes: 3,141 nCPM
  • myonuclei: 1,160 nCPM
  • hepatocytes: 537 nCPM
  • podocytes: 503 nCPM
  • fibro-adipogenic progenitors: 484 nCPM
  • syncytiotrophoblasts: 401 nCPM

Immune cell

  • basophil: 0.3 nTPM
  • neutrophil: 0.2 nTPM
  • classical monocyte: 0 nTPM
  • eosinophil: 0 nTPM
  • gdT-cell: 0 nTPM
  • intermediate monocyte: 0 nTPM

Brain region

  • hypothalamus: 13 nTPM
  • choroid plexus: 5.5 nTPM
  • basal ganglia: 4.9 nTPM
  • midbrain: 4.9 nTPM
  • cerebellum: 4.2 nTPM
  • cerebral cortex: 4.2 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about GHR.

Disease | AllUniProt

Conditions GHR is implicated in, by any mechanism.

Disease | GeneticClinVar

61 pathogenic / likely-pathogenic of 633 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

  • Laron-type isolated somatotropin defect
  • Short stature due to partial GHR deficiency
  • Growth hormone insensitivity syndrome
  • Hypercholesterolemia, familial, 1
  • Laron syndrome with undetectable serum GH-binding protein

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance)
0.66
gnomAD pLI
0
gnomAD missense Z
-0.36
DepMap mean gene effect
0.07
DepMap dependency class
none

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 5% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of GHR in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads GHR as an antibody target. Whether an autoantibody or antibody against GHR could matter depends on whether native GHR is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

GHR is annotated at the cell surface, where native GHR is exposed to circulating antibodies and is a prime autoantibody target that could block, deplete, or overstimulate it.

Annotation status

The present source text does not explicitly label GHR as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

Canonical record: https://seroatlas.com/gene/GHR. Study-independent annotations aggregated from UniProt, Human Protein Atlas, PubMed, IEDB, Pfam, InterPro, Gene Ontology, AlphaFold, gnomAD, DepMap, ClinVar, TCGA. Catalog release seroatlas-reviewed-human-uniprot-20260313.

Seroatlas is the reference for exploring autoantibody and antibody serology at the human-protein level: the autoreactome and human serome, multiplex serology (HuProt, HuScan, VirScan, PhIP-Seq).

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