Details for: GHR

Gene ID: 2690

Gene Type:  Protein-coding  - A gene that serves as a template for producing a messenger RNA (mRNA) molecule, which is then translated into a functional protein.

Symbol: GHR

Ensembl ID: ENSG00000112964

Description: growth hormone receptor

Cell Significance Landscape

Associated with

Significant Cells

Cell Significance Index (CSI) scores for the chosen context(s)

  • adipocyte CL0000136
    CSI 68.26
    rCSI 87.65%
    PRS 84.73
  • hepatocyte CL0000182
    CSI 28.75
    rCSI 51.46%
    PRS 90.5
  • pvalb GABAergic cortical interneuron CL4023018
    CSI 26.19
    rCSI 32.59%
    PRS 78.11
  • epicardial adipocyte CL1000309
    CSI 25.12
    rCSI 81.74%
    PRS 89.48
  • placental villous trophoblast CL2000060
    CSI 24.76
    rCSI 38.25%
    PRS 90.22
  • chandelier pvalb GABAergic cortical interneuron CL4023036
    CSI 17.87
    rCSI 55.9%
    PRS 83.29
  • glioblast CL0000030
    CSI 16.61
    rCSI 26.49%
    PRS 85.09
  • near-projecting glutamatergic cortical neuron CL4023012
    CSI 16.15
    rCSI 61.03%
    PRS 80.49
  • subcutaneous adipocyte CL0002521
    CSI 16.03
    rCSI 82.09%
    PRS 93.63
  • differentiation-committed oligodendrocyte precursor CL4023059
    CSI 15.68
    rCSI 28.49%
    PRS 86.16
  • L6b glutamatergic cortical neuron CL4023038
    CSI 15.07
    rCSI 47.09%
    PRS 81.58
  • VIP GABAergic cortical interneuron CL4023016
    CSI 14.28
    rCSI 17.05%
    PRS 80.34
  • cardiac muscle cell CL0000746
    CSI 13.28
    rCSI 19.06%
    PRS 84.64
  • cerebral cortex endothelial cell CL1001602
    CSI 12.79
    rCSI 22.13%
    PRS 87.12
  • sncg GABAergic cortical interneuron CL4023015
    CSI 11.66
    rCSI 18.75%
    PRS 81.33
  • cardiac neuron CL0010022
    CSI 11.41
    rCSI 36.5%
    PRS 90.8
  • enteric smooth muscle cell CL0002504
    CSI 9.99
    rCSI 14.25%
    PRS 91.89
  • inhibitory interneuron CL0000498
    CSI 9.44
    rCSI 21.79%
    PRS 83.82
  • GABAergic amacrine cell CL4030027
    CSI 9.41
    rCSI 32.22%
    PRS 80.4
  • sst GABAergic cortical interneuron CL4023017
    CSI 8.24
    rCSI 10.62%
    PRS 81.41
  • corticothalamic-projecting glutamatergic cortical neuron CL4023013
    CSI 7.79
    rCSI 45.88%
    PRS 80.73
  • kidney interstitial fibroblast CL1000692
    CSI 7.76
    rCSI 41.25%
    PRS 85.44
  • vascular leptomeningeal cell CL4023051
    CSI 7.59
    rCSI 13.31%
    PRS 88.86
  • L2/3-6 intratelencephalic projecting glutamatergic neuron CL4023040
    CSI 7.59
    rCSI 18.45%
    PRS 78.15
  • chondrocyte CL0000138
    CSI 7.52
    rCSI 11.95%
    PRS 87.83
  • hepatic stellate cell CL0000632
    CSI 7.47
    rCSI 27.97%
    PRS 88.19
  • kidney interstitial alternatively activated macrophage CL1000695
    CSI 7.47
    rCSI 19.46%
    PRS 93.5
  • mural cell CL0008034
    CSI 7.13
    rCSI 24.15%
    PRS 88.71
  • epithelial cell of proximal tubule CL0002306
    CSI 6.86
    rCSI 16.76%
    PRS 86.16
  • glutamatergic neuron CL0000679
    CSI 6.71
    rCSI 13.79%
    PRS 81.17
  • Schwann cell CL0002573
    CSI 6.68
    rCSI 18.99%
    PRS 88.7
  • contractile cell CL0000183
    CSI 6.64
    rCSI 19.61%
    PRS 91.68
  • choroid plexus epithelial cell CL0000706
    CSI 6.06
    rCSI 9.93%
    PRS 85.77
  • renal interstitial pericyte CL1001318
    CSI 6.05
    rCSI 16.68%
    PRS 89.71
  • lamp5 GABAergic cortical interneuron CL4023011
    CSI 6.05
    rCSI 10.15%
    PRS 80.29
  • adventitial cell CL0002503
    CSI 6.03
    rCSI 14.4%
    PRS 93.82
  • retinal ganglion cell CL0000740
    CSI 5.74
    rCSI 12.68%
    PRS 82.59
  • fibroblast of lung CL0002553
    CSI 5.54
    rCSI 5.16%
    PRS 93.16
  • regular ventricular cardiac myocyte CL0002131
    CSI 5.41
    rCSI 33.79%
    PRS 86.23
  • mesothelial cell CL0000077
    CSI 5.28
    rCSI 20.64%
    PRS 77.26
  • myofibroblast cell CL0000186
    CSI 5.24
    rCSI 7.26%
    PRS 88.89
  • GABAergic neuron CL0000617
    CSI 5.19
    rCSI 17.37%
    PRS 79.72
  • blood vessel endothelial cell CL0000071
    CSI 5
    rCSI 10.38%
    PRS 90.44
  • retinal blood vessel endothelial cell CL0002585
    CSI 4.92
    rCSI 7.86%
    PRS 93.79
  • L5 extratelencephalic projecting glutamatergic cortical neuron CL4023041
    CSI 4.77
    rCSI 17.16%
    PRS 78.4
  • endocardial cell CL0002350
    CSI 4.75
    rCSI 22.72%
    PRS 88.83
  • L4 intratelencephalic projecting glutamatergic neuron CL4030063
    CSI 4.71
    rCSI 11.28%
    PRS 82.58
  • periportal region hepatocyte CL0019026
    CSI 4.31
    rCSI 16.75%
    PRS 88.91
  • amacrine cell CL0000561
    CSI 4.16
    rCSI 12.06%
    PRS 84.32
  • mesenchymal stem cell of adipose tissue CL0002570
    CSI 4.16
    rCSI 23.17%
    PRS 93.02
  • caudal ganglionic eminence derived cortical interneuron CL4023064
    CSI 4.05
    rCSI 7.15%
    PRS 79.75
  • interneuron CL0000099
    CSI 4.05
    rCSI 8.13%
    PRS 86.55
  • tracheobronchial smooth muscle cell CL0019019
    CSI 4.04
    rCSI 7.13%
    PRS 94.4
  • fibroblast of cardiac tissue CL0002548
    CSI 3.86
    rCSI 18.48%
    PRS 92.78
  • neural crest cell CL0011012
    CSI 3.84
    rCSI 3.03%
    PRS 85.77
  • cardiac endothelial cell CL0010008
    CSI 3.67
    rCSI 14.82%
    PRS 92.55
  • podocyte CL0000653
    CSI 3.58
    rCSI 15.93%
    PRS 92.2
  • renal principal cell CL0005009
    CSI 3.57
    rCSI 9.26%
    PRS 91.28
  • midzonal region hepatocyte CL0019028
    CSI 3.55
    rCSI 8.34%
    PRS 89.39
  • lung pericyte CL0009089
    CSI 3.52
    rCSI 9.3%
    PRS 95.15
  • parietal epithelial cell CL1000452
    CSI 3.5
    rCSI 9.36%
    PRS 87.42
  • astrocyte of the cerebral cortex CL0002605
    CSI 3.47
    rCSI 7.77%
    PRS 80.61
  • keratocyte CL0002363
    CSI 3.44
    rCSI 8.28%
    PRS 92.86
  • kidney connecting tubule epithelial cell CL1000768
    CSI 3.4
    rCSI 8.62%
    PRS 86.68
  • Kupffer cell CL0000091
    CSI 3.38
    rCSI 7.72%
    PRS 92.79
  • alveolar type 1 fibroblast cell CL4028004
    CSI 3.37
    rCSI 3.69%
    PRS 93.43
  • basal cell CL0000646
    CSI 3.3
    rCSI 4.41%
    PRS 89.47
  • glycinergic amacrine cell CL4030028
    CSI 3.13
    rCSI 8.15%
    PRS 86.42
  • tendon cell CL0000388
    CSI 2.98
    rCSI 7.75%
    PRS 94.24
  • mesodermal cell CL0000222
    CSI 2.93
    rCSI 3.51%
    PRS 90.87
  • macroglial cell CL0000126
    CSI 2.92
    rCSI 7.5%
    PRS 88.57
  • interstitial cell of Cajal CL0002088
    CSI 2.69
    rCSI 3.42%
    PRS 94.85
  • regular atrial cardiac myocyte CL0002129
    CSI 2.66
    rCSI 8.55%
    PRS 88.66
  • basket cell CL0000118
    CSI 2.6
    rCSI 16.27%
    PRS 73.2
  • conjunctival epithelial cell CL1000432
    CSI 2.54
    rCSI 3.88%
    PRS 90.85
  • central nervous system neuron CL2000029
    CSI 2.54
    rCSI 18.64%
    PRS 84.52
  • kidney loop of Henle thick ascending limb epithelial cell CL1001106
    CSI 2.49
    rCSI 21.47%
    PRS 86.94
  • renal beta-intercalated cell CL0002201
    CSI 2.45
    rCSI 5.84%
    PRS 92.01
  • stromal cell CL0000499
    CSI 2.32
    rCSI 6.52%
    PRS 88.48
  • centrilobular region hepatocyte CL0019029
    CSI 2.29
    rCSI 5.97%
    PRS 88.05
  • skeletal muscle satellite cell CL0000594
    CSI 2.24
    rCSI 6.55%
    PRS 96.49
  • fast muscle cell CL0000190
    CSI 2.13
    rCSI 8.31%
    PRS 84.89
  • myoepithelial cell CL0000185
    CSI 1.95
    rCSI 4.92%
    PRS 93.78
  • Bergmann glial cell CL0000644
    CSI 1.9
    rCSI 2.6%
    PRS 85.35
  • BEST4+ enteroycte CL4030026
    CSI 1.89
    rCSI 2.34%
    PRS 91.49
  • L5/6 near-projecting glutamatergic neuron CL4030067
    CSI 1.85
    rCSI 6.08%
    PRS 81.43
  • blood vessel smooth muscle cell CL0019018
    CSI 1.8
    rCSI 14.68%
    PRS 89.9
  • alveolar adventitial fibroblast CL4028006
    CSI 1.59
    rCSI 2.51%
    PRS 92.81
  • mesangial cell CL0000650
    CSI 1.46
    rCSI 5.94%
    PRS 95.78
  • endothelial cell of pericentral hepatic sinusoid CL0019022
    CSI 1.39
    rCSI 4.27%
    PRS 93.26
  • diffuse bipolar 4 cell CL4033031
    CSI 1.13
    rCSI 12.9%
    PRS 80.67
  • starburst amacrine cell CL0004232
    CSI 1.08
    rCSI 9.07%
    PRS 79.29
  • cardiac blood vessel endothelial cell CL0010006
    CSI 0.98
    rCSI 6.91%
    PRS 86.2
  • ON parasol ganglion cell CL4033052
    CSI 0.91
    rCSI 12.94%
    PRS 85.29
  • kidney distal convoluted tubule epithelial cell CL1000849
    CSI 0.84
    rCSI 8.9%
    PRS 88.56
  • indirect pathway medium spiny neuron CL4023029
    CSI 0.64
    rCSI 15.35%
    PRS 78.23
  • direct pathway medium spiny neuron CL4023026
    CSI 0.63
    rCSI 15.05%
    PRS 78.1
  • OFF midget ganglion cell CL4033047
    CSI 0.54
    rCSI 11.03%
    PRS 84.88
  • ON midget ganglion cell CL4033046
    CSI 0.5
    rCSI 10.18%
    PRS 84.16
  • medium spiny neuron CL1001474
    CSI 0.34
    rCSI 2.94%
    PRS 84.56

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration

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Legend:
  • Query Gene
  • Node Color (Target Cell CSI, relative to current network):
    • Very High
    • High
    • Medium
    • Low
    • Very Low
    • CSI N/A
  • Node Size: Proportional to Target Cell CSI magnitude
  • STRING PPI Edge
  • Shared Pathway Edge (ONTOLOGY)

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Other Information

This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.

## Summary The [GHR](/details-gene/2690) gene encodes the growth hormone receptor, a transmembrane protein that plays a central role in mediating the physiological effects of growth hormone (GH). As a member of the class I cytokine receptor superfamily, it is critical for postnatal growth, development, and metabolism. Upon binding GH, the receptor dimerizes and activates an intracellular signaling cascade, most notably the JAK-STAT pathway, influencing gene expression related to growth and metabolic regulation. **Overall**, expression data reveals that [GHR](/details-gene/2690) has its most significant cellular footprint in metabolic tissues, with exceptionally high significance in [adipocytes](/details-cell/CL0000136) and [hepatocytes](/details-cell/CL0000182). Mutations in this gene are associated with Laron syndrome, a form of dwarfism characterized by growth hormone insensitivity ([262500](https://omim.org/entry/262500)), underscoring its indispensable role in human development [Link](https://doi.org/10.1073/pnas.86.20.8083). ## Cellular Roles and Expression Landscape The expression profile of [GHR](/details-gene/2690) highlights its primary function in metabolic homeostasis and growth regulation, with a secondary but significant presence in the central nervous system and other tissues. The highest significance score for [GHR](/details-gene/2690) is observed in [adipocytes](/details-cell/CL0000136) (CSI: 68.26), including specific subtypes like [epicardial adipocytes](/details-cell/CL1000309) and [subcutaneous adipocytes](/details-cell/CL0002521). This is closely followed by a strong signal in [hepatocytes](/details-cell/CL0000182) (CSI: 28.75). This pattern is consistent with the well-established role of growth hormone in regulating lipolysis in fat tissue and stimulating the production of insulin-like growth factor I (IGF-I) in the liver. Furthermore, its high significance in [placental villous trophoblasts](/details-cell/CL2000060) suggests a key role during fetal development and maternal-fetal nutrient exchange. Interestingly, [GHR](/details-gene/2690) also shows a distinct expression pattern within the central nervous system. It is a significant marker for several neuronal subtypes, including [pvalb GABAergic cortical interneurons](/details-cell/CL4023018), [near-projecting glutamatergic cortical neurons](/details-cell/CL4023012), and [L6b glutamatergic cortical neurons](/details-cell/CL4023038). This suggests that growth hormone may have direct neuromodulatory functions, potentially influencing neuronal development, synaptic plasticity, or circuit function. Significant expression is also noted in [cardiac muscle cells](/details-cell/CL0000746) and [glioblasts](/details-cell/CL0000030), broadening its physiological relevance to cardiac function and potentially neuropathology. ## Pathways and Molecular Function Functional annotation confirms that [GHR](/details-gene/2690) is integral to hormone-mediated signaling and growth regulation. The primary molecular function is defined as '[Growth hormone receptor activity](/details-gene/GO:0004903)' ([GO:0004903](https://www.ebi.ac.uk/QuickGO/term/GO:0004903)), which involves direct '[Peptide hormone binding](/details-gene/GO:0017046)' ([GO:0017046](https://www.ebi.ac.uk/QuickGO/term/GO:0017046)). The receptor is localized to the '[External side of plasma membrane](/details-gene/GO:0009897)' ([GO:0009897](https://www.ebi.ac.uk/QuickGO/term/GO:0009897)), where it forms a '[Growth hormone receptor complex](/details-gene/GO:0070195)' ([GO:0070195](https://www.ebi.ac.uk/QuickGO/term/GO:0070195)) upon ligand binding. The key biological processes initiated by [GHR](/details-gene/2690) activation are encapsulated by the Reactome pathway '[Growth hormone receptor signaling](/details-gene/R-HSA-982772)' ([R-HSA-982772](https://reactome.org/content/detail/R-HSA-982772)) and the GO term '[Cell surface receptor signaling pathway via jak-stat](/details-gene/GO:0007259)' ([GO:0007259](https://www.ebi.ac.uk/QuickGO/term/GO:0007259)). These pathways ultimately lead to the '[Positive regulation of multicellular organism growth](/details-gene/GO:0040018)' ([GO:0040018](https://www.ebi.ac.uk/QuickGO/term/GO:0040018)) and '[Positive regulation of cell population proliferation](/details-gene/GO:0008284)' ([GO:0008284](https://www.ebi.ac.uk/QuickGO/term/GO:0008284)). Its inclusion in the '[Cytokine signaling in immune system](/details-gene/R-HSA-1280215)' ([R-HSA-1280215](https://reactome.org/content/detail/R-HSA-1280215)) pathway reflects its structural relationship to other cytokine receptors and highlights a degree of crosstalk between endocrine and immune signaling networks. The existence of various receptor isoforms, generated through alternative splicing, further regulates signaling by producing soluble GH-binding proteins or dominant-negative forms [Link](https://doi.org/10.1073/pnas.93.20.10723). ## Research Directions The widespread yet specific expression pattern of [GHR](/details-gene/2690) suggests multifaceted roles that extend beyond classical endocrinology, presenting several avenues for future research. 1. **Hypothesis 1:** The significant expression of [GHR](/details-gene/2690) in specific cortical neuron subtypes, such as [pvalb GABAergic cortical interneurons](/details-cell/CL4023018), suggests that GH directly modulates inhibitory circuits in the brain. This local signaling may be crucial for synaptic plasticity, cognitive function, and may be dysregulated in neurodevelopmental or psychiatric disorders associated with altered GH levels. 2. **Hypothesis 2:** The expression of [GHR](/details-gene/2690) in [glioblasts](/details-cell/CL0000030) indicates that it may function as a driver of proliferation and survival in certain brain tumors. Activation of the GHR-STAT signaling axis could contribute to glioma pathogenesis, making it a potential therapeutic vulnerability. **Experimental Approach for Hypothesis 1:** To investigate the role of [GHR](/details-gene/2690) in cortical inhibitory neurons, a conditional knockout mouse model could be generated by crossing a mouse line carrying a floxed *Ghr* allele with a Pvalb-Cre driver line. This would specifically delete the receptor in parvalbumin-expressing interneurons. Electrophysiological analysis using patch-clamp recordings from cortical slices could then be used to assess changes in intrinsic excitability, synaptic transmission, and plasticity in these neurons. These cellular-level findings could be correlated with behavioral assays designed to test cognitive functions like learning, memory, and social interaction. **Therapeutic Potential:** [GHR](/details-gene/2690) is an established therapeutic target. For diseases of GH insensitivity like Laron syndrome, treatment involves bypassing the defective receptor. Conversely, for conditions of GH excess such as acromegaly or gigantism, **inhibition** of [GHR](/details-gene/2690) is the primary strategy, exemplified by the GHR antagonist drug Pegvisomant. The data showing significant [GHR](/details-gene/2690) expression in [glioblasts](/details-cell/CL0000030) suggests that targeting this receptor could be a viable anti-cancer strategy. A GHR-antagonizing agent, perhaps delivered via brain-penetrant nanoparticles, could inhibit tumor growth. However, the receptor's widespread expression in healthy tissues, including the heart and other parts of the brain, necessitates a highly targeted approach to minimize off-target effects.

Genular Protein ID: 2708394047

Symbol: GHR_HUMAN

Name: Somatotropin receptor

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 2825030

Title: Growth hormone receptor and serum binding protein: purification, cloning and expression.

PubMed ID: 2825030

DOI: 10.1038/330537a0

PubMed ID: 2813379

Title: Characterization of the human growth hormone receptor gene and demonstration of a partial gene deletion in two patients with Laron-type dwarfism.

PubMed ID: 2813379

DOI: 10.1073/pnas.86.20.8083

PubMed ID: 1569971

Title: Expression of a human growth hormone (hGH) receptor isoform is predicted by tissue-specific alternative splicing of exon 3 of the hGH receptor gene transcript.

PubMed ID: 1569971

DOI: 10.1210/mend.6.2.1569971

PubMed ID: 8855247

Title: Alternatively spliced forms in the cytoplasmic domain of the human growth hormone (GH) receptor regulate its ability to generate a soluble GH-binding protein.

PubMed ID: 8855247

DOI: 10.1073/pnas.93.20.10723

PubMed ID: 9360546

Title: A membrane-fixed, truncated isoform of the human growth hormone receptor.

PubMed ID: 9360546

DOI: 10.1210/jcem.82.11.4358

PubMed ID: 9058373

Title: A short isoform of the human growth hormone receptor functions as a dominant negative inhibitor of the full-length receptor and generates large amounts of binding protein.

PubMed ID: 9058373

DOI: 10.1210/mend.11.3.9901

PubMed ID: 8360189

Title: Functional characterization of the alternatively spliced, placental human growth hormone receptor.

PubMed ID: 8360189

DOI: 10.1016/s0021-9258(17)46730-5

PubMed ID: 10764769

Title: Species-specific alternative splice mimicry at the growth hormone receptor locus revealed by the lineage of retroelements during primate evolution.

PubMed ID: 10764769

DOI: 10.1074/jbc.m001615200

PubMed ID: 2406245

Title: The human growth hormone receptor. Secretion from Escherichia coli and disulfide bonding pattern of the extracellular binding domain.

PubMed ID: 2406245

DOI: 10.1016/s0021-9258(19)39741-8

PubMed ID: 11785980

Title: Identification of a region critical for proteolysis of the human growth hormone receptor.

PubMed ID: 11785980

DOI: 10.1006/bbrc.2001.6261

PubMed ID: 15690087

Title: SOCS2 negatively regulates growth hormone action in vitro and in vivo.

PubMed ID: 15690087

DOI: 10.1172/jci22710

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

PubMed ID: 21980433

Title: The SOCS2 ubiquitin ligase complex regulates growth hormone receptor levels.

PubMed ID: 21980433

DOI: 10.1371/journal.pone.0025358

PubMed ID: 25505247

Title: Biophysical studies on interactions and assembly of full-size E3 ubiquitin ligase: suppressor of cytokine signaling 2 (SOCS2)-elongin BC-cullin 5-ring box protein 2 (RBX2).

PubMed ID: 25505247

DOI: 10.1074/jbc.m114.616664

PubMed ID: 34857742

Title: Discovery of an exosite on the SOCS2-SH2 domain that enhances SH2 binding to phosphorylated ligands.

PubMed ID: 34857742

DOI: 10.1038/s41467-021-26983-5

PubMed ID: 1549776

Title: Human growth hormone and extracellular domain of its receptor: crystal structure of the complex.

PubMed ID: 1549776

DOI: 10.1126/science.1549776

PubMed ID: 8943276

Title: Crystal structure of an antagonist mutant of human growth hormone, G120R, in complex with its receptor at 2.9-A resolution.

PubMed ID: 8943276

DOI: 10.1074/jbc.271.50.32197

PubMed ID: 31182716

Title: Structural insights into substrate recognition by the SOCS2 E3 ubiquitin ligase.

PubMed ID: 31182716

DOI: 10.1038/s41467-019-10190-4

PubMed ID: 2779634

Title: Laron dwarfism and mutations of the growth hormone-receptor gene.

PubMed ID: 2779634

DOI: 10.1056/nejm198910123211501

PubMed ID: 8421103

Title: Amino acid substitutions in the intracellular part of the growth hormone receptor in a patient with the Laron syndrome.

PubMed ID: 8421103

DOI: 10.1210/jcem.76.1.8421103

PubMed ID: 8504296

Title: Spectrum of growth hormone receptor mutations and associated haplotypes in Laron syndrome.

PubMed ID: 8504296

DOI: 10.1093/hmg/2.4.355

PubMed ID: 8450064

Title: Lack of hormone binding in COS-7 cells expressing a mutated growth hormone receptor found in Laron dwarfism.

PubMed ID: 8450064

DOI: 10.1172/jci116304

PubMed ID: 8137822

Title: A single amino acid substitution in the exoplasmic domain of the human growth hormone (GH) receptor confers familial GH resistance (Laron syndrome) with positive GH-binding activity by abolishing receptor homodimerization.

PubMed ID: 8137822

DOI: 10.1002/j.1460-2075.1994.tb06392.x

PubMed ID: 7565946

Title: Mutations of the growth hormone receptor in children with idiopathic short stature.

PubMed ID: 7565946

DOI: 10.1056/nejm199510263331701

PubMed ID: 9024232

Title: Nine novel growth hormone receptor gene mutations in patients with Laron syndrome.

PubMed ID: 9024232

DOI: 10.1210/jcem.82.2.3725

PubMed ID: 9661642

Title: A novel mutation affecting the interdomain link region of the growth hormone receptor in a Vietnamese girl, and response to long-term treatment with recombinant human insulin-like growth factor-I and luteinizing hormone-releasing hormone analogue.

PubMed ID: 9661642

DOI: 10.1210/jcem.83.7.4954

PubMed ID: 9814495

Title: Growth hormone receptor mutations in children with idiopathic short stature.

PubMed ID: 9814495

DOI: 10.1210/jcem.83.11.5238

PubMed ID: 9851797

Title: Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor.

PubMed ID: 9851797

DOI: 10.1210/jcem.83.12.5357

PubMed ID: 10391209

Title: Characterization of single-nucleotide polymorphisms in coding regions of human genes.

PubMed ID: 10391209

DOI: 10.1038/10290

PubMed ID: 10870033

Title: Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation.

PubMed ID: 10870033

DOI: 10.1530/eje.0.1430071

PubMed ID: 12910492

Title: Growth hormone receptor variant (L526I) modifies plasma HDL cholesterol phenotype in familial hypercholesterolemia: intra-familial association study in an eight-generation hyperlipidemic kindred.

PubMed ID: 12910492

DOI: 10.1002/ajmg.a.20172

PubMed ID: 14678285

Title: The first homozygous mutation (S226I) in the highly-conserved WSXWS-like motif of the GH receptor causing Laron syndrome: suppression of GH secretion by GnRH analogue therapy not restored by dihydrotestosterone administration.

PubMed ID: 14678285

DOI: 10.1111/j.1365-2265.2004.01930.x

Sequence Information:

  • Length: 638
  • Mass: 71500
  • Checksum: EAF77EADE4787822
  • Sequence:
  • MDLWQLLLTL ALAGSSDAFS GSEATAAILS RAPWSLQSVN PGLKTNSSKE PKFTKCRSPE 
    RETFSCHWTD EVHHGTKNLG PIQLFYTRRN TQEWTQEWKE CPDYVSAGEN SCYFNSSFTS 
    IWIPYCIKLT SNGGTVDEKC FSVDEIVQPD PPIALNWTLL NVSLTGIHAD IQVRWEAPRN 
    ADIQKGWMVL EYELQYKEVN ETKWKMMDPI LTTSVPVYSL KVDKEYEVRV RSKQRNSGNY 
    GEFSEVLYVT LPQMSQFTCE EDFYFPWLLI IIFGIFGLTV MLFVFLFSKQ QRIKMLILPP 
    VPVPKIKGID PDLLKEGKLE EVNTILAIHD SYKPEFHSDD SWVEFIELDI DEPDEKTEES 
    DTDRLLSSDH EKSHSNLGVK DGDSGRTSCC EPDILETDFN ANDIHEGTSE VAQPQRLKGE 
    ADLLCLDQKN QNNSPYHDAC PATQQPSVIQ AEKNKPQPLP TEGAESTHQA AHIQLSNPSS 
    LSNIDFYAQV SDITPAGSVV LSPGQKNKAG MSQCDMHPEM VSLCQENFLM DNAYFCEADA 
    KKCIPVAPHI KVESHIQPSL NQEDIYITTE SLTTAAGRPG TGEHVPGSEM PVPDYTSIHI 
    VQSPQGLILN ATALPLPDKE FLSSCGYVST DQLNKIMP

Genular Protein ID: 3168471881

Symbol: A0A087X0H5_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

PubMed ID: 24275569

Title: An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

PubMed ID: 24275569

DOI: 10.1016/j.jprot.2013.11.014

Sequence Information:

  • Length: 645
  • Mass: 72243
  • Checksum: D757356B10C5D250
  • Sequence:
  • MNWGPTGMDL WQLLLTLALA GSSDAFSGSE ATAAILSRAP WSLQSVNPGL KTNSSKEPKF 
    TKCRSPERET FSCHWTDEVH HGTKNLGPIQ LFYTRRNTQE WTQEWKECPD YVSAGENSCY 
    FNSSFTSIWI PYCIKLTSNG GTVDEKCFSV DEIVQPDPPI ALNWTLLNVS LTGIHADIQV 
    RWEAPRNADI QKGWMVLEYE LQYKEVNETK WKMMDPILTT SVPVYSLKVD KEYEVRVRSK 
    QRNSGNYGEF SEVLYVTLPQ MSQFTCEEDF YFPWLLIIIF GIFGLTVMLF VFLFSKQQRI 
    KMLILPPVPV PKIKGIDPDL LKEGKLEEVN TILAIHDSYK PEFHSDDSWV EFIELDIDEP 
    DEKTEESDTD RLLSSDHEKS HSNLGVKDGD SGRTSCCEPD ILETDFNAND IHEGTSEVAQ 
    PQRLKGEADL LCLDQKNQNN SPYHDACPAT QQPSVIQAEK NKPQPLPTEG AESTHQAAHI 
    QLSNPSSLSN IDFYAQVSDI TPAGSVVLSP GQKNKAGMSQ CDMHPEMVSL CQENFLMDNA 
    YFCEADAKKC IPVAPHIKVE SHIQPSLNQE DIYITTESLT TAAGRPGTGE HVPGSEMPVP 
    DYTSIHIVQS PQGLILNATA LPLPDKEFLS SCGYVSTDQL NKIMP

Genular Protein ID: 3147290305

Symbol: A0A087X162_HUMAN

Name: N/A

UniProtKB Accession Codes:

Database IDs:

Citations:

PubMed ID: 11237011

Title: Initial sequencing and analysis of the human genome.

PubMed ID: 11237011

DOI: 10.1038/35057062

PubMed ID: 15372022

Title: The DNA sequence and comparative analysis of human chromosome 5.

PubMed ID: 15372022

DOI: 10.1038/nature02919

PubMed ID: 15496913

Title: Finishing the euchromatic sequence of the human genome.

PubMed ID: 15496913

DOI: 10.1038/nature03001

Sequence Information:

  • Length: 295
  • Mass: 34045
  • Checksum: 98B1DD31AAC8F6FD
  • Sequence:
  • MDLWQLLLTL ALAGSSDAFS GSEATAAILS RAPWSLQSVN PGLKTNSSKE PKFTKCRSPE 
    RETFSCHWTD EVHHGTKNLG PIQLFYTRRN TQEWTQEWKE CPDYVSAGEN SCYFNSSFTS 
    IWIPYCIKLT SNGGTVDEKC FSVDEIVQPD PPIALNWTLL NVSLTGIHAD IQVRWEAPRN 
    ADIQKGWMVL EYELQYKEVN ETKWKMMDPI LTTSVPVYSL KVDKEYEVRV RSKQRNSGNY 
    GEFSEVLYVT LPQMSQFTCE EDFYFPWLLI IIFGIFGLTV MLFVFLFSKQ QRKEN