Details for: GHR

Gene ID: 2690

Symbol: GHR

Ensembl ID: ENSG00000112964

Description: growth hormone receptor

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 69.2193
    Cell Significance Index: -32.6800
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 31.8882
    Cell Significance Index: -30.4500
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 12.8805
    Cell Significance Index: -28.1900
  • Cell Name: adipocyte of breast (CL0002617)
    Fold Change: 11.4301
    Cell Significance Index: 143.9300
  • Cell Name: subcutaneous adipocyte (CL0002521)
    Fold Change: 7.3877
    Cell Significance Index: 32.1600
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: 7.1965
    Cell Significance Index: 48.7600
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: 6.4825
    Cell Significance Index: 126.5200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 6.1057
    Cell Significance Index: 102.8500
  • Cell Name: type I muscle cell (CL0002211)
    Fold Change: 5.0059
    Cell Significance Index: 122.1400
  • Cell Name: type II muscle cell (CL0002212)
    Fold Change: 4.4691
    Cell Significance Index: 72.1100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 4.4307
    Cell Significance Index: 113.8900
  • Cell Name: leptomeningeal cell (CL0000708)
    Fold Change: 2.4659
    Cell Significance Index: 52.7100
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 2.2470
    Cell Significance Index: 172.4300
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: 2.1972
    Cell Significance Index: 134.7100
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 2.1675
    Cell Significance Index: 58.0800
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 2.0443
    Cell Significance Index: 389.0400
  • Cell Name: fibroblast of cardiac tissue (CL0002548)
    Fold Change: 1.5613
    Cell Significance Index: 22.4200
  • Cell Name: basal epithelial cell of prostatic duct (CL0002236)
    Fold Change: 1.1812
    Cell Significance Index: 10.4900
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.9307
    Cell Significance Index: 26.0100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.8654
    Cell Significance Index: 18.9500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: 0.8438
    Cell Significance Index: 24.0800
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.8073
    Cell Significance Index: 161.9400
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.6487
    Cell Significance Index: 448.6900
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.6096
    Cell Significance Index: 120.9700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.5172
    Cell Significance Index: 185.5100
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.3742
    Cell Significance Index: 337.9100
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.2897
    Cell Significance Index: 37.1400
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.2171
    Cell Significance Index: 35.3100
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.2044
    Cell Significance Index: 9.2700
  • Cell Name: cardiac muscle cell (CL0000746)
    Fold Change: 0.1825
    Cell Significance Index: 2.7000
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: 0.1572
    Cell Significance Index: 2.3200
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: 0.0997
    Cell Significance Index: 45.2400
  • Cell Name: cardiac endothelial cell (CL0010008)
    Fold Change: 0.0987
    Cell Significance Index: 1.4200
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0838
    Cell Significance Index: 157.7800
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.0682
    Cell Significance Index: 30.1600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.0470
    Cell Significance Index: 2.6400
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.0316
    Cell Significance Index: 3.1300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0134
    Cell Significance Index: 18.1600
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0011
    Cell Significance Index: -0.0300
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: -0.0040
    Cell Significance Index: -0.1400
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0049
    Cell Significance Index: -3.1100
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: -0.0053
    Cell Significance Index: -0.3200
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0090
    Cell Significance Index: -16.5400
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0097
    Cell Significance Index: -14.9900
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: -0.0185
    Cell Significance Index: -2.2800
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0267
    Cell Significance Index: -19.5500
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0301
    Cell Significance Index: -4.3800
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: -0.0318
    Cell Significance Index: -5.7400
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0389
    Cell Significance Index: -28.7900
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: -0.0428
    Cell Significance Index: -1.2300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: -0.0443
    Cell Significance Index: -6.0800
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0461
    Cell Significance Index: -3.1000
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0498
    Cell Significance Index: -37.6800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0510
    Cell Significance Index: -28.7400
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0596
    Cell Significance Index: -37.2000
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: -0.0632
    Cell Significance Index: -34.4900
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0989
    Cell Significance Index: -28.4700
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.0994
    Cell Significance Index: -10.3500
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.1072
    Cell Significance Index: -2.6800
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: -0.1195
    Cell Significance Index: -2.5900
  • Cell Name: obsolete epithelial cell of alveolus of lung (CL0010003)
    Fold Change: -0.1235
    Cell Significance Index: -3.0800
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: -0.1531
    Cell Significance Index: -10.5900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: -0.1567
    Cell Significance Index: -26.7600
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.1595
    Cell Significance Index: -33.5900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.1800
    Cell Significance Index: -18.3900
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.1903
    Cell Significance Index: -13.4600
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1951
    Cell Significance Index: -4.1400
  • Cell Name: lactocyte (CL0002325)
    Fold Change: -0.2211
    Cell Significance Index: -28.5700
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2235
    Cell Significance Index: -3.2000
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: -0.2366
    Cell Significance Index: -27.5700
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: -0.2513
    Cell Significance Index: -11.8100
  • Cell Name: transit amplifying cell of small intestine (CL0009012)
    Fold Change: -0.2589
    Cell Significance Index: -5.3700
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.2819
    Cell Significance Index: -12.4700
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.2880
    Cell Significance Index: -17.7000
  • Cell Name: corneal endothelial cell (CL0000132)
    Fold Change: -0.2932
    Cell Significance Index: -4.4600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.3213
    Cell Significance Index: -36.8100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.3300
    Cell Significance Index: -12.5000
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: -0.3522
    Cell Significance Index: -7.5000
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.3717
    Cell Significance Index: -29.4400
  • Cell Name: paneth cell of colon (CL0009009)
    Fold Change: -0.3901
    Cell Significance Index: -5.8400
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.4073
    Cell Significance Index: -6.8500
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: -0.4196
    Cell Significance Index: -31.2700
  • Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
    Fold Change: -0.4298
    Cell Significance Index: -10.7200
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.4329
    Cell Significance Index: -7.2500
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.4384
    Cell Significance Index: -14.0400
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: -0.4453
    Cell Significance Index: -12.1200
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.4534
    Cell Significance Index: -14.4400
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.4966
    Cell Significance Index: -16.2600
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.4999
    Cell Significance Index: -26.0400
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.5018
    Cell Significance Index: -8.6000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: -0.5296
    Cell Significance Index: -34.1700
  • Cell Name: regular ventricular cardiac myocyte (CL0002131)
    Fold Change: -0.5541
    Cell Significance Index: -7.1100
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.5790
    Cell Significance Index: -30.4000
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.5972
    Cell Significance Index: -37.6400
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: -0.6383
    Cell Significance Index: -33.1600
  • Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
    Fold Change: -0.6411
    Cell Significance Index: -13.3800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.6433
    Cell Significance Index: -12.7200
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.6448
    Cell Significance Index: -22.5900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: -0.7082
    Cell Significance Index: -33.0200
  • Cell Name: kidney interstitial fibroblast (CL1000692)
    Fold Change: -0.7100
    Cell Significance Index: -8.2500

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.

Other Information

**Key Characteristics** The GHR gene encodes a transmembrane receptor with intrinsic tyrosine kinase activity. The receptor consists of two alpha subunits and two beta subunits, which are linked by disulfide bonds. Upon binding of GH, the receptor undergoes dimerization and autophosphorylation, triggering a cascade of signaling events that regulate cellular processes such as cell growth, differentiation, and metabolism. The GHR gene has several key characteristics that distinguish it from other growth factor receptors: 1. **High affinity for GH**: The GHR has a high affinity for GH, allowing it to efficiently mediate the effects of this hormone. 2. **Intrinsic tyrosine kinase activity**: The GHR has intrinsic tyrosine kinase activity, which enables it to phosphorylate and activate downstream signaling molecules. 3. **Dimerization**: The GHR undergoes dimerization upon binding of GH, which activates the receptor's intrinsic tyrosine kinase activity. 4. **Wide tissue expression**: The GHR is highly expressed in various tissues, including skeletal muscle, fat cells, and epithelial cells of the lungs. **Pathways and Functions** The GHR signaling pathway is a complex network of molecular interactions that regulate various cellular processes. The key components of the GHR signaling pathway include: 1. **GH binding**: The GHR binds to GH, triggering a conformational change in the receptor. 2. **Dimerization**: The GHR undergoes dimerization, which activates the receptor's intrinsic tyrosine kinase activity. 3. **Autophosphorylation**: The GHR undergoes autophosphorylation, which activates downstream signaling molecules. 4. **JAK/STAT signaling**: The GHR activates the JAK/STAT signaling pathway, which regulates gene expression and cellular processes such as cell growth and differentiation. 5. **PI3K/AKT signaling**: The GHR also activates the PI3K/AKT signaling pathway, which regulates cellular processes such as metabolism and cell survival. The GHR plays a crucial role in regulating various cellular processes, including: 1. **Cell growth and differentiation**: The GHR regulates cell growth and differentiation by activating signaling pathways such as the JAK/STAT and PI3K/AKT pathways. 2. **Metabolism**: The GHR regulates metabolism by activating signaling pathways such as the PI3K/AKT pathway. 3. **Insulin sensitivity**: The GHR regulates insulin sensitivity by activating signaling pathways such as the PI3K/AKT pathway. **Clinical Significance** Variations in the GHR gene have been associated with several diseases, including: 1. **Growth hormone deficiency**: GHR mutations can lead to growth hormone deficiency, which can result in short stature and other growth-related disorders. 2. **Acromegaly**: Excess GH secretion can lead to acromegaly, which is characterized by excessive growth and tissue hypertrophy. 3. **Insulin resistance**: GHR mutations can also lead to insulin resistance, which is a hallmark of type 2 diabetes. 4. **Cancer**: The GHR has been implicated in the development and progression of certain cancers, including breast and prostate cancer. In conclusion, the GHR gene plays a critical role in regulating growth, metabolism, and development. Variations in the GHR gene have been associated with several diseases, highlighting the importance of this gene in human health and disease.

Genular Protein ID: 2708394047

Symbol: GHR_HUMAN

Name: Somatotropin receptor

UniProtKB Accession Codes:

P10912 Q9HCX2

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 6 DrugCentral 1 ELM 1 EMBL 11 Ensembl 7 EvolutionaryTrace 1 ExpressionAtlas 1 GO 48 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyCosmos 1 GlyGen 1 GuidetoPHARMACOLOGY 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 6 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 2 OrthoDB 1 PANTHER 2 PDB 11 PDBsum 11 PIR 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 3 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 4 RNAct 1 Reactome 2 RefSeq 11 SIGNOR 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

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:

A0A087X0H5

Database IDs:

ARBA 9 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 5 Gene3D 1 GeneTree 1 HGNC 1 InterPro 6 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 2 Pfam 3 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 3 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

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:

A0A087X162

Database IDs:

ARBA 2 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID-ORCS 1 CDD 1 CTD 1 ChiTaRS 1 DNASU 1 DisGeNET 1 EMBL 6 Ensembl 2 ExpressionAtlas 1 GO 4 Gene3D 1 GeneTree 1 HGNC 1 HOGENOM 1 InterPro 5 MassIVE 1 NCBI Taxonomy 1 OrthoDB 1 PANTHER 2 PROSITE 3 PeptideAtlas 2 Pfam 2 Proteomes 2 ProteomicsDB 1 RefSeq 1 SAM 2 SMR 1 SUPFAM 1 UCSC 1 VEuPathDB 1

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

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.