GHR (growth hormone receptor)

Gene

• Entrez ID: 2690
• Gene name: Growth hormone receptor
• Gene symbol: GHR
• Synonyms (NCBI Gene): GHBP, GHIP
• Chromosome: 5
• Chromosome location: 5p13.1-p12
• Summary: 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 tran

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs6177	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, missense variant
rs6180	A>C,G	Risk-factor, benign	Coding sequence variant, 3 prime UTR variant, missense variant
rs6413484	G>A,T	Benign, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs45588036	G>C	Pathogenic	Coding sequence variant, missense variant
rs114025919	G>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs121909357	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909358	C>A,G,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, missense variant
rs121909359	C>A	Pathogenic	Stop gained, coding sequence variant
rs121909360	A>G	Pathogenic	Synonymous variant, coding sequence variant
rs121909361	G>A	Pathogenic	Coding sequence variant, missense variant
rs121909362	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs121909363	C>T	Pathogenic	Stop gained, coding sequence variant
rs121909364	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs121909365	C>A	Pathogenic	Coding sequence variant, missense variant
rs121909366	G>C	Pathogenic	Coding sequence variant, missense variant
rs121909367	T>C	Pathogenic	Coding sequence variant, missense variant
rs121909368	A>C,T	Pathogenic	Coding sequence variant, missense variant
rs121909369	T>A,G	Pathogenic	Coding sequence variant, missense variant
rs121909370	G>A,C	Pathogenic	Stop gained, coding sequence variant, intron variant, missense variant
rs121909371	C>A	Pathogenic	Stop gained, coding sequence variant
rs121909372	G>C	Pathogenic	Coding sequence variant, missense variant
rs121909373	T>C,G	Pathogenic	Synonymous variant, coding sequence variant, missense variant
rs140501920	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, coding sequence variant
rs143814221	T>C	Pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs190314158	T>C,G	Pathogenic	Missense variant, coding sequence variant
rs730880281	G>T	Pathogenic	Splice acceptor variant
rs730880282	G>C	Pathogenic	Coding sequence variant, missense variant
rs730880308	G>C	Pathogenic	Splice acceptor variant, intron variant
rs886037910	T>C	Pathogenic	Coding sequence variant, missense variant
rs1060499692	G>A	Likely-pathogenic	Stop gained, coding sequence variant
rs1554040858	G>A	Pathogenic	Coding sequence variant, synonymous variant, intron variant
rs1579626395	A>C	Likely-pathogenic	Missense variant, coding sequence variant
rs1579636931	AGGA>GGG	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1579675001	G>A	Pathogenic	Intron variant, splice donor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT1018420	hsa-miR-1261	CLIP-seq
MIRT1018421	hsa-miR-1270	CLIP-seq
MIRT1018422	hsa-miR-1276	CLIP-seq
MIRT1018423	hsa-miR-128	CLIP-seq
MIRT1018424	hsa-miR-1285	CLIP-seq
MIRT1018425	hsa-miR-1296	CLIP-seq
MIRT1018426	hsa-miR-142-3p	CLIP-seq
MIRT1018427	hsa-miR-2054	CLIP-seq
MIRT1018428	hsa-miR-2909	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT1018431	hsa-miR-3158-3p	CLIP-seq
MIRT1018432	hsa-miR-3163	CLIP-seq
MIRT1018433	hsa-miR-3187-5p	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT1018435	hsa-miR-3668	CLIP-seq
MIRT1018436	hsa-miR-3689a-3p	CLIP-seq
MIRT1018437	hsa-miR-3689c	CLIP-seq
MIRT1018438	hsa-miR-3689d	CLIP-seq
MIRT1018439	hsa-miR-3924	CLIP-seq
MIRT1018440	hsa-miR-3926	CLIP-seq
MIRT1018441	hsa-miR-4280	CLIP-seq
MIRT1018442	hsa-miR-4302	CLIP-seq
MIRT1018443	hsa-miR-4311	CLIP-seq
MIRT1018444	hsa-miR-4424	CLIP-seq
MIRT1018445	hsa-miR-4433	CLIP-seq
MIRT1018446	hsa-miR-4446-3p	CLIP-seq
MIRT1018447	hsa-miR-4459	CLIP-seq
MIRT1018448	hsa-miR-4492	CLIP-seq
MIRT1018449	hsa-miR-4498	CLIP-seq
MIRT1018450	hsa-miR-4505	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT1018452	hsa-miR-4648	CLIP-seq
MIRT1018453	hsa-miR-4654	CLIP-seq
MIRT1018454	hsa-miR-4683	CLIP-seq
MIRT1018455	hsa-miR-4728-5p	CLIP-seq
MIRT1018456	hsa-miR-4768-3p	CLIP-seq
MIRT1018457	hsa-miR-4769-5p	CLIP-seq
MIRT1018458	hsa-miR-4786-5p	CLIP-seq
MIRT1018459	hsa-miR-4793-5p	CLIP-seq
MIRT1018460	hsa-miR-548aa	CLIP-seq
MIRT1018461	hsa-miR-548g	CLIP-seq
MIRT1018462	hsa-miR-548p	CLIP-seq
MIRT1018463	hsa-miR-548s	CLIP-seq
MIRT1018464	hsa-miR-564	CLIP-seq
MIRT1018465	hsa-miR-583	CLIP-seq
MIRT1018466	hsa-miR-612	CLIP-seq
MIRT1018467	hsa-miR-620	CLIP-seq
MIRT1018468	hsa-miR-649	CLIP-seq
MIRT1018469	hsa-miR-762	CLIP-seq
MIRT1018470	hsa-miR-944	CLIP-seq
MIRT1018471	hsa-let-7a	CLIP-seq
MIRT1018472	hsa-let-7b	CLIP-seq
MIRT1018473	hsa-let-7c	CLIP-seq
MIRT1018474	hsa-let-7d	CLIP-seq
MIRT1018475	hsa-let-7e	CLIP-seq
MIRT1018476	hsa-let-7f	CLIP-seq
MIRT1018477	hsa-let-7g	CLIP-seq
MIRT1018478	hsa-let-7i	CLIP-seq
MIRT1018479	hsa-miR-1252	CLIP-seq
MIRT1018480	hsa-miR-202	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT1018481	hsa-miR-3150a-3p	CLIP-seq
MIRT1018482	hsa-miR-3175	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT1018483	hsa-miR-3672	CLIP-seq
MIRT1018484	hsa-miR-3929	CLIP-seq
MIRT1018485	hsa-miR-4294	CLIP-seq
MIRT1018486	hsa-miR-4419b	CLIP-seq
MIRT1018487	hsa-miR-4458	CLIP-seq
MIRT1018488	hsa-miR-4478	CLIP-seq
MIRT1018489	hsa-miR-4499	CLIP-seq
MIRT1018490	hsa-miR-4500	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT1018491	hsa-miR-4667-5p	CLIP-seq
MIRT1018492	hsa-miR-4678	CLIP-seq
MIRT1018493	hsa-miR-4700-5p	CLIP-seq
MIRT1018494	hsa-miR-494	CLIP-seq
MIRT1018495	hsa-miR-548ae	CLIP-seq
MIRT1018496	hsa-miR-548aj	CLIP-seq
MIRT1018497	hsa-miR-548am	CLIP-seq
MIRT1018498	hsa-miR-548x	CLIP-seq
MIRT1018499	hsa-miR-637	CLIP-seq
MIRT1018500	hsa-miR-653	CLIP-seq
MIRT1018501	hsa-miR-939	CLIP-seq
MIRT1018502	hsa-miR-98	CLIP-seq
MIRT2001622	hsa-miR-1271	CLIP-seq
MIRT2001623	hsa-miR-129-5p	CLIP-seq
MIRT2001624	hsa-miR-182	CLIP-seq
MIRT2001625	hsa-miR-1827	CLIP-seq
MIRT2001626	hsa-miR-3622a-5p	CLIP-seq
MIRT2001627	hsa-miR-3664-3p	CLIP-seq
MIRT1018436	hsa-miR-3689a-3p	CLIP-seq
MIRT1018437	hsa-miR-3689c	CLIP-seq
MIRT1018484	hsa-miR-3929	CLIP-seq
MIRT1018486	hsa-miR-4419b	CLIP-seq
MIRT1018445	hsa-miR-4433	CLIP-seq
MIRT1018447	hsa-miR-4459	CLIP-seq
MIRT1018488	hsa-miR-4478	CLIP-seq
MIRT2001628	hsa-miR-4642	CLIP-seq
MIRT2001629	hsa-miR-4649-3p	CLIP-seq
MIRT2001630	hsa-miR-4681	CLIP-seq
MIRT1018454	hsa-miR-4683	CLIP-seq
MIRT2001631	hsa-miR-4695-5p	CLIP-seq
MIRT1018455	hsa-miR-4728-5p	CLIP-seq
MIRT1018456	hsa-miR-4768-3p	CLIP-seq
MIRT2001632	hsa-miR-485-5p	CLIP-seq
MIRT2001633	hsa-miR-510	CLIP-seq
MIRT2001634	hsa-miR-512-5p	CLIP-seq
MIRT1018464	hsa-miR-564	CLIP-seq
MIRT2001635	hsa-miR-96	CLIP-seq
MIRT1018421	hsa-miR-1270	CLIP-seq
MIRT2234677	hsa-miR-15a	CLIP-seq
MIRT2234678	hsa-miR-15b	CLIP-seq
MIRT2234679	hsa-miR-16	CLIP-seq
MIRT2234680	hsa-miR-195	CLIP-seq
MIRT1018480	hsa-miR-202	CLIP-seq
MIRT2234681	hsa-miR-2276	CLIP-seq
MIRT2234682	hsa-miR-25	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT2234683	hsa-miR-3074-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT2234684	hsa-miR-3123	CLIP-seq
MIRT2234685	hsa-miR-32	CLIP-seq
MIRT2234686	hsa-miR-3200-5p	CLIP-seq
MIRT2234687	hsa-miR-3613-3p	CLIP-seq
MIRT2234688	hsa-miR-363	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT2234689	hsa-miR-3667-3p	CLIP-seq
MIRT1018435	hsa-miR-3668	CLIP-seq
MIRT2234690	hsa-miR-367	CLIP-seq
MIRT2234691	hsa-miR-3920	CLIP-seq
MIRT1018439	hsa-miR-3924	CLIP-seq
MIRT1018440	hsa-miR-3926	CLIP-seq
MIRT2234692	hsa-miR-424	CLIP-seq
MIRT2234693	hsa-miR-432	CLIP-seq
MIRT1018445	hsa-miR-4433	CLIP-seq
MIRT2234694	hsa-miR-4434	CLIP-seq
MIRT1018447	hsa-miR-4459	CLIP-seq
MIRT2234695	hsa-miR-4516	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT2234696	hsa-miR-4524	CLIP-seq
MIRT2234697	hsa-miR-4531	CLIP-seq
MIRT2234698	hsa-miR-4540	CLIP-seq
MIRT1018454	hsa-miR-4683	CLIP-seq
MIRT2234699	hsa-miR-4696	CLIP-seq
MIRT2234700	hsa-miR-4699-3p	CLIP-seq
MIRT1018456	hsa-miR-4768-3p	CLIP-seq
MIRT1018458	hsa-miR-4786-5p	CLIP-seq
MIRT1018459	hsa-miR-4793-5p	CLIP-seq
MIRT2234701	hsa-miR-497	CLIP-seq
MIRT2234702	hsa-miR-503	CLIP-seq
MIRT1018460	hsa-miR-548aa	CLIP-seq
MIRT1018463	hsa-miR-548s	CLIP-seq
MIRT2234703	hsa-miR-593	CLIP-seq
MIRT1018467	hsa-miR-620	CLIP-seq
MIRT2234704	hsa-miR-646	CLIP-seq
MIRT2234705	hsa-miR-92a	CLIP-seq
MIRT2234706	hsa-miR-92b	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT2388442	hsa-miR-3182	CLIP-seq
MIRT2388443	hsa-miR-4659a-3p	CLIP-seq
MIRT2388444	hsa-miR-4659b-3p	CLIP-seq
MIRT2388445	hsa-miR-4796-5p	CLIP-seq
MIRT2388442	hsa-miR-3182	CLIP-seq
MIRT2437409	hsa-miR-4327	CLIP-seq
MIRT2437410	hsa-miR-4427	CLIP-seq
MIRT2388443	hsa-miR-4659a-3p	CLIP-seq
MIRT2388444	hsa-miR-4659b-3p	CLIP-seq
MIRT2437411	hsa-miR-4680-3p	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT2538694	hsa-miR-3155	CLIP-seq
MIRT2538695	hsa-miR-3155b	CLIP-seq
MIRT2538696	hsa-miR-3611	CLIP-seq
MIRT2234687	hsa-miR-3613-3p	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT2538697	hsa-miR-409-3p	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT2538698	hsa-miR-4687-3p	CLIP-seq
MIRT2538699	hsa-miR-4785	CLIP-seq
MIRT2538700	hsa-miR-484	CLIP-seq
MIRT2234703	hsa-miR-593	CLIP-seq
MIRT1018429	hsa-miR-3065-5p	CLIP-seq
MIRT1018430	hsa-miR-3120-5p	CLIP-seq
MIRT2681562	hsa-miR-3122	CLIP-seq
MIRT2538694	hsa-miR-3155	CLIP-seq
MIRT2538695	hsa-miR-3155b	CLIP-seq
MIRT2681563	hsa-miR-3165	CLIP-seq
MIRT2388442	hsa-miR-3182	CLIP-seq
MIRT2538696	hsa-miR-3611	CLIP-seq
MIRT2234687	hsa-miR-3613-3p	CLIP-seq
MIRT1018434	hsa-miR-3664-5p	CLIP-seq
MIRT1018436	hsa-miR-3689a-3p	CLIP-seq
MIRT1018437	hsa-miR-3689c	CLIP-seq
MIRT2681564	hsa-miR-3913-5p	CLIP-seq
MIRT2538697	hsa-miR-409-3p	CLIP-seq
MIRT2437409	hsa-miR-4327	CLIP-seq
MIRT2437410	hsa-miR-4427	CLIP-seq
MIRT1018451	hsa-miR-4522	CLIP-seq
MIRT2388443	hsa-miR-4659a-3p	CLIP-seq
MIRT2388444	hsa-miR-4659b-3p	CLIP-seq
MIRT2437411	hsa-miR-4680-3p	CLIP-seq
MIRT2538698	hsa-miR-4687-3p	CLIP-seq
MIRT1018455	hsa-miR-4728-5p	CLIP-seq
MIRT2538699	hsa-miR-4785	CLIP-seq
MIRT1018458	hsa-miR-4786-5p	CLIP-seq
MIRT2538700	hsa-miR-484	CLIP-seq
MIRT2234703	hsa-miR-593	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
POU1F1	Activation	7529501

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0004896	Function	Cytokine receptor activity	IEA
GO:0004903	Function	Growth hormone receptor activity	IBA
GO:0004903	Function	Growth hormone receptor activity	IDA	1549776, 2825030, 8943276
GO:0004903	Function	Growth hormone receptor activity	IEA
GO:0004903	Function	Growth hormone receptor activity	ISS	8063815
GO:0005515	Function	Protein binding	IPI	8943276, 9353194, 10502458, 10866662, 12907755, 17474147, 19167335, 25241761, 31279174
GO:0005576	Component	Extracellular region	IEA
GO:0005576	Component	Extracellular region	TAS
GO:0005615	Component	Extracellular space	IDA	8137822, 9360546
GO:0005615	Component	Extracellular space	IEA
GO:0005615	Component	Extracellular space	IMP	2825030
GO:0005829	Component	Cytosol	IBA
GO:0005829	Component	Cytosol	IDA
GO:0005886	Component	Plasma membrane	IDA	2825030
GO:0005886	Component	Plasma membrane	IDA	8137822
GO:0005886	Component	Plasma membrane	IEA
GO:0005886	Component	Plasma membrane	TAS
GO:0006897	Process	Endocytosis	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	IEA
GO:0007259	Process	Cell surface receptor signaling pathway via JAK-STAT	ISS	8063815
GO:0008284	Process	Positive regulation of cell population proliferation	IBA
GO:0008289	Function	Lipid binding	EXP	25846210
GO:0009629	Process	Response to gravity	IEA
GO:0009725	Process	Response to hormone	IEA
GO:0009755	Process	Hormone-mediated signaling pathway	IEA
GO:0009897	Component	External side of plasma membrane	IBA
GO:0009986	Component	Cell surface	IDA	8137822
GO:0016020	Component	Membrane	IDA	1549776
GO:0016020	Component	Membrane	IEA
GO:0017046	Function	Peptide hormone binding	IBA
GO:0017046	Function	Peptide hormone binding	IPI	1549776, 2825030, 8943276, 9571026
GO:0019221	Process	Cytokine-mediated signaling pathway	IBA
GO:0019530	Process	Taurine metabolic process	ISS
GO:0019838	Function	Growth factor binding	IPI	9360546
GO:0019901	Function	Protein kinase binding	IEA
GO:0019903	Function	Protein phosphatase binding	IEA
GO:0019955	Function	Cytokine binding	IBA
GO:0030296	Function	Protein tyrosine kinase activator activity	IEA
GO:0030296	Function	Protein tyrosine kinase activator activity	ISS	8063815
GO:0031623	Process	Receptor internalization	IDA	9360546
GO:0031623	Process	Receptor internalization	IDA	9360546
GO:0032094	Process	Response to food	IEA
GO:0032107	Process	Regulation of response to nutrient levels	IEA
GO:0032355	Process	Response to estradiol	IDA	12552091
GO:0032869	Process	Cellular response to insulin stimulus	IEA
GO:0032870	Process	Cellular response to hormone stimulus	IMP	7565946
GO:0034097	Process	Response to cytokine	IEA
GO:0036464	Component	Cytoplasmic ribonucleoprotein granule	IDA
GO:0040014	Process	Regulation of multicellular organism growth	ISS
GO:0040018	Process	Positive regulation of multicellular organism growth	IMP	2813379
GO:0042169	Function	SH2 domain binding	IEA
GO:0042445	Process	Hormone metabolic process	IMP	8137822
GO:0042802	Function	Identical protein binding	IPI	16116438
GO:0042803	Function	Protein homodimerization activity	IDA	1549776, 8137822, 8943276
GO:0043025	Component	Neuronal cell body	IEA
GO:0043161	Process	Proteasome-mediated ubiquitin-dependent protein catabolic process	IDA	21980433
GO:0043235	Component	Receptor complex	IDA	8137822
GO:0043410	Process	Positive regulation of MAPK cascade	IEA
GO:0043410	Process	Positive regulation of MAPK cascade	ISS	8063815
GO:0043434	Process	Response to peptide hormone	IEA
GO:0045597	Process	Positive regulation of cell differentiation	IEA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IBA
GO:0046427	Process	Positive regulation of receptor signaling pathway via JAK-STAT	IEA
GO:0046898	Process	Response to cycloheximide	IDA	9360546
GO:0046898	Process	Response to cycloheximide	IDA	9360546
GO:0048009	Process	Insulin-like growth factor receptor signaling pathway	IMP	7565946
GO:0051384	Process	Response to glucocorticoid	IEA
GO:0060351	Process	Cartilage development involved in endochondral bone morphogenesis	IEA
GO:0060396	Process	Growth hormone receptor signaling pathway	IBA
GO:0060396	Process	Growth hormone receptor signaling pathway	IDA	1549776, 2825030, 8943276, 15690087
GO:0060396	Process	Growth hormone receptor signaling pathway	IEA
GO:0060396	Process	Growth hormone receptor signaling pathway	IMP	7565946
GO:0060397	Process	Growth hormone receptor signaling pathway via JAK-STAT	IDA	12552091, 15690087
GO:0060400	Process	Negative regulation of growth hormone receptor signaling pathway	IDA	21980433
GO:0060416	Process	Response to growth hormone	IEA
GO:0070064	Function	Proline-rich region binding	ISS	2825030
GO:0070195	Component	Growth hormone receptor complex	IBA
GO:0070195	Component	Growth hormone receptor complex	IDA	1549776, 8137822, 8943276, 9571026
GO:0070555	Process	Response to interleukin-1	IEA
GO:1990782	Function	Protein tyrosine kinase binding	IEA
GO:1990782	Function	Protein tyrosine kinase binding	ISS

Other IDs

• MIM: 600946
• HGNC: 4263
• e!Ensembl: ENSG00000112964

Protein

• UniProt ID: P10912
• Protein name: Growth hormone receptor (GH receptor) (Somatotropin receptor) [Cleaved into: Growth hormone-binding protein (GH-binding protein) (GHBP) (Serum-binding protein)]
• Protein function: Receptor for pituitary gland growth hormone (GH1) involved in regulating postnatal body growth (PubMed:1549776, PubMed:2825030, PubMed:8943276). On ligand binding, couples to the JAK2/STAT5 pathway (PubMed:1549776, PubMed:15690087, PubMed:282503
• PDB: 1A22, 1AXI, 1HWG, 1HWH, 1KF9, 2AEW, 3HHR, 5OEK, 5OHD, 6I5J, 6I5N
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF09067	EpoR_lig-bind	43 → 144	Erythropoietin receptor, ligand binding	Domain
  PF00041	fn3	159 → 244	Fibronectin type III domain	Domain
  PF12772	GHBP	316 → 617	Growth hormone receptor binding	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed in various tissues with high expression in liver and skeletal muscle. {ECO:0000269|PubMed:8855247}.; TISSUE SPECIFICITY: [Isoform 2]: Isoform 2 is expressed in lung, stomach and muscle. {ECO:0000269|PubMed:8855247}.; TISSUE S
• Sequence:

  MDLWQLLLTLALAGSSDAFSGSEATAAILSRAPWSLQSVNPGLKTNSSKEPKFTKCRSPE
  RETFSCHWTDEVHHGTKNLGPIQLFYTRRNTQEWTQEWKECPDYVSAGENSCYFNSSFTS
  IWIPYCIKLTSNGGTVDEKCFSVDEIVQPDPPIALNWTLLNVSLTGIHADIQVRWEAPRN
  ADIQKGWMVLEYELQYKEVNETKWKMMDPILTTSVPVYSLKVDKEYEVRVRSKQRNSGNY
  GEFSEVLYVTLPQMSQFTCEEDFYFPWLLIIIFGIFGLTVMLFVFLFSKQQRIKMLILPP
  VPVPKIKGIDPDLLKEGKLEEVNTILAIHDSYKPEFHSDDSWVEFIELDIDEPDEKTEES
  DTDRLLSSDHEKSHSNLGVKDGDSGRTSCCEPDILETDFNANDIHEGTSEVAQPQRLKGE
  ADLLCLDQKNQNNSPYHDACPATQQPSVIQAEKNKPQPLPTEGAESTHQAAHIQLSNPSS
  LSNIDFYAQVSDITPAGSVVLSPGQKNKAGMSQCDMHPEMVSLCQENFLMDNAYFCEADA
  KKCIPVAPHIKVESHIQPSLNQEDIYITTESLTTAAGRPGTGEHVPGSEMPVPDYTSIHI
  VQSPQGLILNATALPLPDKEFLSSCGYVSTDQLNKIMP

• Sequence length: 638

Pathways

KEGG:

Cytokine-cytokine receptor interaction
Neuroactive ligand-receptor interaction
Hormone signaling
PI3K-Akt signaling pathway
JAK-STAT signaling pathway
Growth hormone synthesis, secretion and action

Reactome:

Prolactin receptor signaling
Growth hormone receptor signaling

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Growth hormone insensitivity syndrome	Pathogenic; Likely pathogenic	rs1194378231, rs121909359, rs121909365, rs1011727375, rs121909370	RCV004801039 RCV003317031 RCV005237361 RCV005887394 RCV003398476	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Hypercholesterolemia, familial, 1	Pathogenic	rs121909358, rs121909360, rs121909363	RCV005031429 RCV005031430 RCV005031431	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laron syndrome with elevated serum GH-binding protein	Pathogenic	rs730880282, rs1579675001	RCV000009176 RCV000009182	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laron syndrome with undetectable serum GH-binding protein	Pathogenic; Likely pathogenic	rs121909364, rs1758837026, rs121909365	RCV000009179 RCV000009181 RCV000009183	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Laron-type isolated somatotropin defect	Pathogenic; Likely pathogenic	rs1194378231, rs2112477601, rs121909357, rs121909358, rs121909359, rs121909360, rs121909363, rs1009412984, rs730880281, rs2530742503, rs121909368, rs121909369, rs121909367, rs1011727375, rs121909370, rs121909371, rs2530783457, rs121909372, rs1060499692, rs1554040858, rs1579626395, rs1757597156	RCV002279943 RCV001805740 RCV000009164 RCV000009165 RCV000009166 RCV000009167 RCV000009171 RCV000009172 RCV000009174 RCV000009175 RCV000009177 RCV000009180 RCV000009186 RCV000009187 RCV000009189 RCV000009191 RCV000009192 RCV000009194 RCV004813231 RCV000449581 RCV000582894 RCV000995550 RCV001078202	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Short stature due to partial GHR deficiency	Pathogenic	rs121909358, rs121909360, rs121909363, rs730880308, rs886037910	RCV005031429 RCV005031430 RCV005031431 RCV000009178 RCV000240723	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
ALZHEIMER DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTISTIC DISORDER	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CENTRAL NERVOUS SYSTEM INFECTION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
COLONIC DISEASES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DIABETES MELLITUS, NON-INSULIN-DEPENDENT	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GHR-related disorder	Uncertain significance; Likely benign; Conflicting classifications of pathogenicity; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE DEFICIENCY, ISOLATED PARTIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
GROWTH HORMONE INSENSITIVITY, PARTIAL	—	HPO	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Hepatocellular carcinoma	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERCHOLESTEROLEMIA, FAMILIAL	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERLIPOPROTEINEMIA TYPE IIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
INSOMNIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LIVER CIRRHOSIS, EXPERIMENTAL	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Monogenic short statue	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MYOCARDIAL ISCHEMIA	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, HIP	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OSTEOARTHRITIS, KNEE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PITUITARY DWARFISM	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Short stature due to growth hormone secretagogue receptor deficiency	Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPECIFIC LEARNING DISABILITY	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SQUAMOUS CELL LUNG CARCINOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SYSTEMIC LUPUS ERYTHEMATOSUS	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Relationship Type	References	Evidence Score
Acromegaly	Associate	23648743, 39280003	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma	Associate	24608110	★☆☆☆☆ Found in Text Mining only
Adenocarcinoma of Lung	Associate	23111975, 34590916	★☆☆☆☆ Found in Text Mining only
alpha Mannosidosis	Associate	34614013	★☆☆☆☆ Found in Text Mining only
Arteriovenous Malformations	Associate	37864259	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Associate	10890179	★☆☆☆☆ Found in Text Mining only
Barrett Esophagus	Associate	33300568	★☆☆☆☆ Found in Text Mining only
Brain Neoplasms	Associate	10890179	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Associate	11290538, 23192981, 24676793	★☆☆☆☆ Found in Text Mining only
Burkitt Lymphoma	Associate	23047741	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Associate	24134847	★☆☆☆☆ Found in Text Mining only
Carcinoma Basal Cell	Associate	24022308	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Inhibit	33317258, 36374927	★☆☆☆☆ Found in Text Mining only
Carcinoma Non Small Cell Lung	Associate	39541775	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Associate	25301264	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Associate	28073935, 34614013	★☆☆☆☆ Found in Text Mining only
Congenital Abnormalities	Associate	20190552, 37806643	★☆☆☆☆ Found in Text Mining only
Craniopharyngioma	Associate	10890179	★☆☆☆☆ Found in Text Mining only
Cysts	Associate	18202196	★☆☆☆☆ Found in Text Mining only
Death	Associate	21325617	★☆☆☆☆ Found in Text Mining only
Dental Caries	Associate	15869869	★☆☆☆☆ Found in Text Mining only
Dermatomyositis	Associate	30352204	★☆☆☆☆ Found in Text Mining only
Diabetes Gestational	Associate	17555507	★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Associate	31869513, 32928870, 36357677, 38623619	★☆☆☆☆ Found in Text Mining only
Dwarfism	Associate	28557176, 34769292	★☆☆☆☆ Found in Text Mining only
Dwarfism Pituitary	Associate	26261638, 29687007, 7565946	★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Associate	32869542	★☆☆☆☆ Found in Text Mining only
Fibrosis	Inhibit	33317258	★☆☆☆☆ Found in Text Mining only
Fragile X Syndrome	Associate	39280003	★☆☆☆☆ Found in Text Mining only
Frailty	Associate	37697678, 39464190	★☆☆☆☆ Found in Text Mining only
Gastritis Atrophic	Associate	15334699	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Neoplasms	Associate	24608110	★☆☆☆☆ Found in Text Mining only
Genetic Diseases Inborn	Associate	1999489	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Associate	35808822	★☆☆☆☆ Found in Text Mining only
Glucose Intolerance	Associate	36357677	★☆☆☆☆ Found in Text Mining only
Growth Disorders	Associate	17555507, 20013551, 23047741, 24150201, 26261638, 26366551, 29687007, 31883394, 37474955, 38597155, 9276733	★☆☆☆☆ Found in Text Mining only
Hemochromatosis	Associate	17555507, 26340968	★☆☆☆☆ Found in Text Mining only
Hypertension	Associate	34074802, 37561089	★☆☆☆☆ Found in Text Mining only
Idiopathic Noncirrhotic Portal Hypertension	Inhibit	36374927	★☆☆☆☆ Found in Text Mining only
Insulin Like Growth Factor I Deficiency	Inhibit	21325617	★☆☆☆☆ Found in Text Mining only
Insulin Like Growth Factor I Deficiency	Associate	34769292	★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Associate	11468686, 15473594, 1719554, 17622584, 19812236, 1999489, 20190552, 20427506, 2233903, 26366551, 2813379, 28557176, 31883394, 33912130, 34769292, 36549505, 37474955, 37780997, 38597155, 8137822, 8488849	★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Inhibit	21325617	★☆☆☆☆ Found in Text Mining only
Laron Syndrome	Stimulate	31883394	★☆☆☆☆ Found in Text Mining only
Leigh Disease	Associate	36549505	★☆☆☆☆ Found in Text Mining only
Leukoencephalopathies	Associate	28401151	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Associate	16741161, 39541775	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Stimulate	24676793	★☆☆☆☆ Found in Text Mining only
Malocclusion Angle Class III	Associate	24654940	★☆☆☆☆ Found in Text Mining only
Melanoma	Associate	24134847, 28223541	★☆☆☆☆ Found in Text Mining only
Melanoma	Stimulate	28293855	★☆☆☆☆ Found in Text Mining only
Meningioma	Associate	12163391	★☆☆☆☆ Found in Text Mining only
Neoplasm Metastasis	Associate	25301264	★☆☆☆☆ Found in Text Mining only
Neoplasms	Associate	10890179, 23129384, 24022308, 24134847, 24676793, 25119594, 25301264, 28223541, 33317258	★☆☆☆☆ Found in Text Mining only
Neoplasms	Stimulate	35808822	★☆☆☆☆ Found in Text Mining only
Neoplasms Adipose Tissue	Associate	36384443	★☆☆☆☆ Found in Text Mining only
Neoplastic Syndromes Hereditary	Associate	1999489	★☆☆☆☆ Found in Text Mining only
Neurofibroma	Associate	18297205	★☆☆☆☆ Found in Text Mining only
Neurofibroma Plexiform	Associate	18297205	★☆☆☆☆ Found in Text Mining only
Neurofibromatosis 1	Associate	18297205	★☆☆☆☆ Found in Text Mining only
Non alcoholic Fatty Liver Disease	Associate	35780715	★☆☆☆☆ Found in Text Mining only
Obesity	Associate	34769292, 39464190	★☆☆☆☆ Found in Text Mining only
Obesity	Stimulate	36384443	★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Associate	23129384	★☆☆☆☆ Found in Text Mining only
Overweight	Stimulate	36384443	★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Associate	25301264	★☆☆☆☆ Found in Text Mining only
Peri Implantitis	Associate	40004451	★☆☆☆☆ Found in Text Mining only
Pituitary ACTH Hypersecretion	Associate	20013551	★☆☆☆☆ Found in Text Mining only
Prader Willi Syndrome	Associate	23696513, 29273483	★☆☆☆☆ Found in Text Mining only
Primary Ovarian Insufficiency	Associate	32962729	★☆☆☆☆ Found in Text Mining only
Pulmonary Arterial Hypertension	Associate	35960497	★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Associate	31883394	★☆☆☆☆ Found in Text Mining only
Sarcopenia	Associate	18240972	★☆☆☆☆ Found in Text Mining only
Schizophrenia	Associate	21518920, 27723806, 28401151	★☆☆☆☆ Found in Text Mining only
Schwartz Lelek syndrome	Associate	9382103	★☆☆☆☆ Found in Text Mining only
Scoliosis	Associate	29273483	★☆☆☆☆ Found in Text Mining only
Short Stature Idiopathic Autosomal	Associate	20427506, 24150201, 26261638, 28557176, 28768959, 7565946	★☆☆☆☆ Found in Text Mining only
Spondylocostal dysostosis autosomal recessive	Associate	39280003	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Associate	30702489, 35299682	★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stimulate	30873760	★☆☆☆☆ Found in Text Mining only
Thyroid Hormone Resistance Syndrome	Associate	8381821	★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Associate	32849296	★☆☆☆☆ Found in Text Mining only
Thyroid Nodule	Associate	28791847	★☆☆☆☆ Found in Text Mining only
Turner Syndrome	Associate	22278433	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Associate	35909123	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Associate	18832799	★☆☆☆☆ Found in Text Mining only
Weight Gain	Associate	29273483	★☆☆☆☆ Found in Text Mining only