Property Summary

NCBI Gene PubMed Count 278
Grant Count 174
R01 Count 93
Funding $22,550,360.35
PubMed Score 1277.30
PubTator Score 1302.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (51)

Disease Z-score Confidence
Turner syndrome 31 6.709 3.4
Laron syndrome 9 6.696 3.3
Acromegaly 40 5.11 2.6
Prader-Willi syndrome 45 4.112 2.1
Hypopituitarism 36 4.063 2.0
Noonan Syndrome 33 3.759 1.9
Achondroplasia 20 3.707 1.9
Intracranial hypertension 9 3.595 1.8
Anorexia nervosa 59 3.594 1.8
Hypochondroplasia 11 3.584 1.8
Obesity 616 3.441 1.7
Hypothyroidism 89 3.431 1.7
Kidney failure 39 3.349 1.7
diabetes mellitus 1,663 3.315 1.7
Acromesomelic dysplasia 10 3.258 1.6
Atopic dermatitis 944
Autistic Disorder 320
Breast cancer 3,094
Growth retardation 1
Hypercholesterolemia, Familial 16
Hyperlipoproteinemia Type IIa 7
Liver Cirrhosis, Experimental 108
Myocardial Ischemia 169
Peripheral Neuropathy 303
Pituitary dwarfism 3
Prostatic Neoplasms 471
Short Stature, Idiopathic, Autosomal 4
breast carcinoma 1,614
cystic fibrosis 1,665
ductal carcinoma in situ 1,745
fibroadenoma 557
group 3 medulloblastoma 2,254
interstitial cystitis 2,299
intraductal papillary-mucinous adenoma (... 2,956 
intraductal papillary-mucinous carcinoma... 2,988 
intraductal papillary-mucinous neoplasm ... 3,289 
invasive ductal carcinoma 2,950
lung adenocarcinoma 2,713
lung cancer 4,466
lung carcinoma 2,844
malignant mesothelioma 3,162
medulloblastoma, large-cell 6,234
nasopharyngeal carcinoma 1,056
non-small cell lung carcinoma 413
oligodendroglioma 2,849
ovarian cancer 8,484
pancreatic ductal adenocarcinoma liver m... 1,795 
pilocytic astrocytoma 3,086
psoriasis 6,685
systemic lupus erythematosus 156 1.0
ulcerative colitis 2,087

Expression

Synonym

Accession P10912 Q9HCX2 GH receptor
Symbols GHBP
GHIP

Gene

GHR

PDB

1A22   1AXI   1HWG   1HWH   1KF9   3HHR   2AEW  

Gene RIF (243)

PMID Text
26366551 Data indicate that growth hormone binding protein (GHR) and KCNQ1 potassium channel variants with large effects on stature.
26067082 We report a rapid, optimized method for genotyping the GHR full-length versus exon 3-deleted isoform (GHRd3)
25977383 Association between GHR/exon-3 variants and serum GH, IGF-1 and IGFBP-3 levels in diabetes and coronary heart disease.
25846210 Data suggest that cell membrane/lipid bilayer binding of GHR intracellular domain is independent of transient changes in protein secondary structure of GHR.
25835289 Genetic and epigenetic variation at the GHR and IGF-1 loci play a major role as independent modulators of individual GH sensitivity.
25552351 GHR-exon 3 polymorphisms did not show any consistent association with clinical and laboratory features of acromegalic patients even after treatment.
25391539 The growth hormone receptor d3/fl polymorphism was found to be of functional relevance and associated with central adiposity.
25301264 Altogether, GHR silencing controls the growth and metastasis of pancreatic cancer and reveals its importance in pancreatic cancer pathogenesis.
25211187 A soluble IGF-1R extracellular domain fragment (sol IGF-1R) interacts with GHR in response to GH.
25073105 miRNA (miR)-129-5p, miR-142-3p, miR-202, and miR-16 are potent inhibitors of human GHR expression in normal (HEK293) and cancer (MCF7 and LNCaP) cells.
More...

AA Sequence

MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPERETFSCHWTD      1 - 70
EVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTSIWIPYCIKLTSNGGTVDEKC     71 - 140
FSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRNADIQKGWMVLEYELQYKEVNETKWKMMDPI    141 - 210
LTTSVPVYSLKVDKEYEVRVRSKQRNSGNYGEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTV    211 - 280
MLFVFLFSKQQRIKMLILPPVPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDI    281 - 350
DEPDEKTEESDTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPDILETDFNANDIHEGTSEVAQPQRLKGE    351 - 420
ADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQPLPTEGAESTHQAAHIQLSNPSSLSNIDFYAQV    421 - 490
SDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQENFLMDNAYFCEADAKKCIPVAPHIKVESHIQPSL    491 - 560
NQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHIVQSPQGLILNATALPLPDKEFLSSCGYVST    561 - 630
DQLNKIMP                                                                  631 - 638
//

Text Mined References (282)

PMID Year Title
26366551 2015 Height-reducing variants and selection for short stature in Sardinia.
26067082 2015 Rapid method for growth hormone receptor exon 3 delete (GHRd3) SNP genotyping from archival human placental samples.
25977383 The Effect of GHR/exon-3 Polymorphism and Serum GH, IGF-1 and IGFBP-3 Levels in Diabetes and Coronary Heart Disease.
25846210 2015 Intrinsically disordered cytoplasmic domains of two cytokine receptors mediate conserved interactions with membranes.
25835289 2015 Genetic and Epigenetic Modulation of Growth Hormone Sensitivity Studied With the IGF-1 Generation Test.
25552351 2015 Influence of growth hormone receptor (GHR) exon 3 and -202A/C IGFBP-3 genetic polymorphisms on clinical and biochemical features and therapeutic outcome of patients with acromegaly.
25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
25391539 2015 The GH receptor exon 3 deleted/full-length polymorphism is associated with central adiposity in the general population.
25301264 2014 Growth hormone receptor inhibition decreases the growth and metastasis of pancreatic ductal adenocarcinoma.
25241761 2014 Using an in situ proximity ligation assay to systematically profile endogenous protein-protein interactions in a pathway network.
More...