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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

GHR Gene

protein-coding GIFtS: 69
GCID: GC05P042429

growth hormone receptor

Explore 119 diseases affiliated with
GHR via

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Growth Hormone Receptor¹ ²
Somatotropin Receptor² ³
GH Receptor² ³
GHBP²
Growth Hormone Binding Protein²
Serum Binding Protein²

External Ids:	HGNC: 4263¹	Entrez Gene: 2690²	Ensembl: ENSG00000112964⁷	OMIM: 600946⁵	UniProtKB: P10912³

Export aliases for GHR gene to outside databases

Previous GC identifers: GC05P042872 GC05P043600 GC05P042424 GC05P042469 GC05P042459

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for GHR:

This gene encodes a member of the type I cytokine receptor family, which is a transmembrane receptor for growth

hormone. Binding of growth hormone to the receptor leads to receptor dimerization and the activation of an intra- and

intercellular signal transduction pathway leading to growth. Mutations in this gene have been associated with Laron

syndrome, also known as the growth hormone insensitivity syndrome (GHIS), a disorder characterized by short stature.

In humans and rabbits, but not rodents, growth hormone binding protein (GHBP) is generated by proteolytic cleavage of

the extracellular ligand-binding domain from the mature growth hormone receptor protein. Multiple alternatively

spliced transcript variants have been found for this gene.(provided by RefSeq, Jun 2011)

UniProtKB/Swiss-Prot: GHR_HUMAN, P10912

Function: Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding,

couples to the JAK2/STAT5 pathway (By similarity)

Function: The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of

GH signaling

Function: Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling

Gene Wiki entry for GHR (Growth hormone receptor)

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000005.9 NC_018916.1 NT_006576.16

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the GHR gene promoter:
Sox5 AP-1 JunB Pax-2 Pax-2a YY1 Pax-2b Cart-1 STAT3 c-Myb
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: GHR promoter sequence

Search SABiosciences Chromatin IP Primers for GHR

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat GHR

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 5p13-p12 Ensembl cytogenetic band: 5p13.1 HGNC cytogenetic band: 5p14-p12

GHR Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GHR gene location

GeneLoc information about chromosome 5 GeneLoc Exon Structure

GeneLoc location for GC05P042429: view genomic region (about GC identifiers)

Start:	42,423,879 bp from pter	End:	42,721,979 bp from pter
Size:	298,101 bases	Orientation:	plus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: GHR_HUMAN, P10912 (See protein sequence)

Recommended Name: Growth hormone receptor precursor

Size: 638 amino acids; 71500 Da

Subunit: On growth hormone (GH) binding, forms homodimers and binds JAK2 via a box 1-containing domain (By similarity).

Binding to SOCS3 inhibits JAK2 activation, binding to CIS and SOCS2 inhibits STAT5 activation (By similarity).

Interacts with ADAM17 (By similarity)

Subcellular location: Cell membrane; Single-pass type I membrane protein. Note=On growth hormone binding, GHR is

ubiquitinated, internalized, down-regulated and transported into a degradative or non-degradative pathway (By

similarity)

Subcellular location: Isoform 2: Cell membrane; Single-pass type I membrane protein. Note=Remains fixed to the cell

membrane and is not internalized

Subcellular location: Growth hormone-binding protein: Secreted. Note=Complexed to a substantial fraction of circulating

GH (By similarity)

6/7 PDB 3D structures from and Proteopedia for GHR (see all 7):

1A22 (3D)

1AXI (3D)

1HWG (3D)

1HWH (3D)

1KF9 (3D)

2AEW (3D)

Secondary accessions: Q9HCX2

Alternative splicing: 4 isoforms: P10912-1 P10912-2 P10912-3 P10912-4 (Arises by species-specific retrovirus-mediated alternative splice mimicry)

Explore the universe of human proteins at neXtProt for GHR: NX_P10912

Post-translational modifications:

The soluble form (GHBP) is produced by phorbol ester-promoted proteolytic cleavage at the cell surface (shedding) by

ADAM17/TACE. Shedding is inhibited by growth hormone (GH) binding to the receptor probably due to a conformational

change in GHR rendering the receptor inaccessible to ADAM17 (By similarity)¹

On GH binding, phosphorylated on tyrosine residues in the cytoplasmic domain by JAK2 (By similarity)¹

On ligand binding, ubiquitinated on lysine residues in the cytoplasmic domain. This ubiquitination is not sufficient

for GHR internalization (By similarity)¹

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_P10912

GHR Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (12 alternative transcripts):

NP_000154.1 NP_001229328.1 NP_001229329.1 NP_001229330.1 NP_001229331.1 NP_001229332.1 NP_001229333.1 NP_001229334.1

NP_001229335.1 NP_001229389.1 NP_001229390.1 NP_001229391.1

ENSEMBL proteins:

ENSP00000230882 ENSP00000426739 ENSP00000422333 ENSP00000350335 ENSP00000442206

Reactome Protein details: P10912
Human Recombinant Protein Products:

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	ProSpec Recombinant Protein for GHR
	Uscn Proteins for GHR

Gene Ontology (GO): 5/13 cellular component terms (GO ID links to tree view) (see all 13): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005576	extracellular region	TAS	--
GO:0005615	extracellular space	IMP	2825030
GO:0005634	nucleus	IEA	--
GO:0005737	cytoplasm	--	--
GO:0005739	mitochondrion	IEA	--

GHR for ontologies About GeneDecksing

GHR Antibody Products:

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	Abcam antibodies for GHR
	Uscn Antibodies for GHR
	ThermoFisher Antibodies for GHR

Assay Products for GHR:

	EMD Millipore Kits and Assays for the Analysis of GHR
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for GHR
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for GHR

(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

GHR for domains About GeneDecksing

5 InterPro domains/families:

IPR003961 Fibronectin_type3

IPR013783 Ig-like_fold

IPR015152 Growth/epo_recpt_lig-bind

IPR003528 Long_hematopoietin_rcpt_CS

IPR025871 GHBP

Graphical View of Domain Structure for InterPro Entry P10912

ProtoNet protein and cluster: P10912

1 Blocks protein family: IPB003528 Long hematopoietin receptor

UniProtKB/Swiss-Prot: GHR_HUMAN, P10912

Domain: The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular

transport and cell-surface receptor binding

Domain: The box 1 motif is required for JAK interaction and/or activation

Domain: The extracellular domain is the ligand-binding domain representing the growth hormone-binding protein (GHBP)

Domain: The ubiquitination-dependent endocytosis motif (UbE) is required for recruitment of the ubiquitin conjugation

system on to the receptor and for its internalization

Similarity: Belongs to the type I cytokine receptor family. Type 1 subfamily

Similarity: Contains 1 fibronectin type-III domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Function Summary:

UniProtKB/Swiss-Prot: GHR_HUMAN, P10912

Function: Receptor for pituitary gland growth hormone involved in regulating postnatal body growth. On ligand binding,

couples to the JAK2/STAT5 pathway (By similarity)

Function: The soluble form (GHBP) acts as a reservoir of growth hormone in plasma and may be a modulator/inhibitor of

GH signaling

Function: Isoform 2 up-regulates the production of GHBP and acts as a negative inhibitor of GH signaling

Genatlas biochemistry entry for GHR:

growth hormone receptor

miRNA Products:		OriGene 3'-UTR Clone: GHR Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GHR
		8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate GHR (see all 25):
		hsa-miR-142-3p hsa-let-7d hsa-miR-548k hsa-miR-202 hsa-miR-15a hsa-miR-624* hsa-let-7c hsa-let-7g

		SwitchGear 3'UTR luciferase reporter plasmid: GHR 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for GHR (see all 7) OriGene shRNA RFP: GHR OriGene siRNA: GHR
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat GHR

Gene Editing
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DNA2.0 Custom Protein Engineering Service for GHR

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		GenScript: all cDNA clones in your preferred vector: GHR (NM_000163)
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Cell Line Products:		GenScript Custom overexpressing Cell Line Services for GHR
		Search LifeMap BioReagents cell lines for GHR

In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GHR

Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0004903	growth hormone receptor activity	IEA	--
GO:0005515	protein binding	IPI	10502458
GO:0017046	peptide hormone binding	IPI	2825030
GO:0019838	growth factor binding	IPI	9360546
GO:0019901	protein kinase binding	ISS	--

GHR for ontologies About GeneDecksing

1 GenomeRNAi human phenotype for GHR:

Increased S DNA content

Animal Models:
Mouse knock-outs for GHR: Ghr^tm1Jjk Ghr^tm1Arge Ghr^tm1.2Masp Ghr^tm2Mwat Ghr^tm1Mwat
15/16 MGI mutant phenotypes (inferred from 8 alleles) (MGI details for Ghr) (see all 16):

adipose tissue	behavior/neurological	cardiovascular system	embryogenesis	endocrine/exocrine gland
growth/size	hematopoietic system	homeostasis/metabolism	immune system	limbs/digits/tail
liver/biliary system	mortality/aging	nervous system	renal/urinary system	reproductive system

GHR for phenotypes About GeneDecksing

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Unified GeneCards pathways - 5/17 super-pathways (see all 17) About this table

See pathways by source

Super-pathway

contained gene-specific pathways

FBXW7 WD mutants do not bind NICD1

	Prolactin receptor signaling	0.18			Growth hormone receptor signaling	0.00
	Nuclear signaling by ERBB4	0.07

GH:GHR:JAK2 complex undergoes a conformational change

GH:GHR:JAK2 complex undergoes a conformational change

1.00

Lyn activates ERK

0.57

Development_CNTF receptor signaling

Development_Growth hormone signaling via PI3K/AKT and MAPK cascades

0.34

Development Growth hormone signaling via PI3K/AKT and MAPK cascades

0.34

Cytokine Signaling in Immune system

Cytokine Signaling in Immune system

1.00

Immune System

Immune System

1.00

Pathway sources
See GeneCards unified pathways
Show all pathways

2 EMD Millipore Pathways for GHR

	Development Growth hormone signaling via PI3K/AKT and MAPK cascades
	Selected targets of GCR-alpha

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for GHR

	Growth Hormone Signaling
	JAK-STAT Pathway

1 GeneGo (Thomson Reuters) Pathway for GHR

Development Growth hormone signaling via PI3K/AKT and MAPK cascades

2 BioSystems Pathways for GHR

	Endochondral Ossification
	Notch-mediated HES/HEY network

5/11 Reactome Pathways for GHR (see all 11)

	Cytokine Signaling in Immune system
	JAK2 phosphorylation
	Prolactin receptor signaling
	Lyn activates ERK
	Signal Transduction

3 Kegg Pathways (Kegg details for GHR):

	Cytokine-cytokine receptor interaction
	Neuroactive ligand-receptor interaction
	Jak-STAT signaling pathway

GHR for pathways About GeneDecksing

Interactions:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for GHR

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/61 Interacting proteins for GHR (P10912^{1, 2, 3} ENSP00000230882⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 61)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
PTPN2	P17706¹^,²^,³, ENSP00000311857⁴	EBI-286316,EBI-984930 MINT-6797701 MINT-6797461 MINT-6797520 MINT-6797669 MINT-6797685 MINT-6797717 MINT-6797749 I2D: score=3 STRING: ENSP00000311857
PTPN3	P26045¹^,²^,³, ENSP00000262539⁴	EBI-286316,EBI-1047946 MINT-6797590 MINT-6797814 MINT-6797489 MINT-6797621 MINT-6797890 I2D: score=3 STRING: ENSP00000262539
PTPN9	P43378¹^,²^,³, ENSP00000303554⁴	EBI-286316,EBI-742898 MINT-6797548 MINT-6797775 I2D: score=3 STRING: ENSP00000303554
PTPRB	P23467¹^,²^,³, ENSP00000334928⁴	EBI-286316,EBI-1265766 MINT-6797788 MINT-6797562 I2D: score=3 STRING: ENSP00000334928
PSAP	P07602²^,³, ENSP00000378394⁴	MINT-6797604 MINT-6797576 MINT-6797801 MINT-6797475 I2D: score=1 STRING: ENSP00000378394

About this table

Gene Ontology (GO): 5/42 biological process terms (GO ID links to tree view) (see all 42): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000187	activation of MAPK activity	ISS	--
GO:0000255	allantoin metabolic process	ISS	--
GO:0006101	citrate metabolic process	ISS	--
GO:0006103	2-oxoglutarate metabolic process	ISS	--
GO:0006105	succinate metabolic process	ISS	--

GHR for ontologies About GeneDecksing

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

GHR for compounds About GeneDecksing

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for GHR

2 DrugBank Compounds for GHR About this table

Compound	Synonyms	CAS #	Type	Actions	PubMed Ids
Somatropin recombinant	GH (see all 7)	12629-01-5	target	binder	17082603 11752352 16965663 17128263 17133434 16917171
Pegvisomant	GH (see all 6)	218620-50-9	target	antagonist	20595800 17322491 11752352 19820031

10/84 Novoseek chemical compound relationships for GHR gene (see all 84) About this table

Compound	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
pegvisomant	96.7	154	11158013 (4), 15356058 (3), 19850678 (3), 12846737 (3) (see all 99)
lanreotide	63.7	1	12812311 (1)
octreotide	60.9	16	9037128 (2), 18058736 (1), 16789626 (1), 10946911 (1) (see all 13)
cabergoline	57.3	1	16789626 (1)
tyrosine	56	183	1874195 (6), 8647880 (4), 7691587 (3), 9195475 (3) (see all 84)
hexarelin	52.6	1	9421445 (1)
ghrp	44.1	1	9421445 (1)
glucose	43	55	11248744 (3), 20185347 (3), 15561944 (3), 10619983 (2) (see all 31)
ribonucleic acid	40.6	16	9024230 (2), 10946895 (2), 8200952 (1), 7962309 (1) (see all 8)
marvelon	33.7	1	9704813 (1)

Search CenterWatch for drugs/clinical trials and news about GHR

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for GHR gene (12 alternative transcripts):

NM_000163.4 NM_001242399.2 NM_001242400.2 NM_001242401.3 NM_001242402.2 NM_001242403.2 NM_001242404.2 NM_001242405.2

NM_001242406.2 NM_001242460.1 NM_001242461.1 NM_001242462.1

Unigene Clusters for GHR:

Growth hormone receptor

Hs.125180 [show with all ESTs], Hs.684632 , Hs.688223 [show with all ESTs]

Unigene Representative Sequences: NM_001242400, Z11851, HY197260

7 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000230882(uc003jmt.3 uc003jmu.3 uc021xxv.1 uc003jmv.2 uc021xxw.1 uc021xxx.1 uc021xxy.1 uc021xxz.1 uc021xya.1 uc021xyb.1 uc021xyc.1 uc011cpq.2 uc021xyd.1)

ENST00000513671 ENST00000505006 ENST00000511135 ENST00000513625 ENST00000357703

ENST00000537449

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		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat GHR
		8/25 QIAGEN miScript miRNA Assays for microRNAs that regulate GHR (see all 25):
		hsa-miR-142-3p hsa-let-7d hsa-miR-548k hsa-miR-202 hsa-miR-15a hsa-miR-624* hsa-let-7c hsa-let-7g

		SwitchGear 3'UTR luciferase reporter plasmid: GHR 3' UTR sequence

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		GenScript: all cDNA clones in your preferred vector: GHR (NM_000163)
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for GHR
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GHR

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		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat GHR
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GHR

Additional cDNA sequence:

AF230800.1 AY216680.1 DQ157455.1 DQ157457.1 S97393.1

4 DOTS entries:

DT.70103790 DT.95071668 DT.100696951 DT.91981117

24/52 AceView cDNA sequences (see all 52):

BU617771 BU625645 AI570832 BQ717199 BM719293 AA088572 BX487633 X06562

NM_000163 CN480439 CB162289 AA854743 BG617161 AA401795 BM987400 AU120005

AW242284 BV199091 BE856739 BM989161 AI016221 BG563296 BM683227 AL598835

GeneLoc Exon Structure

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

GHR expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: ACCAAGGTCA

About this image

GHR expression in embryonic tissues and stem cells

Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

Stem Cell Differentiation: 2 LifeMap Cells

Name

Category

PureStem™ mesenchymal progenitor MEL2 (Embryonic Progenitor Cell)

Adipose, Bone, Cartilage

Posterior foregut-like cells (A scalable, suspensi...)

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See GHR Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for GHR

SOURCE GeneReport for Unigene clusters: Hs.125180 Hs.684632 Hs.688223

UniProtKB/Swiss-Prot: GHR_HUMAN, P10912

Tissue specificity: Expressed in various tissues with high expression in liver and skeletal muscle. Isoform 4 is

predominantly expressed in kidney, bladder, adrenal gland and brain stem. Isoform 1 expression in placenta is

predominant in chorion and decidua. Isoform 4 is highly expressed in placental villi. Isoform 2 is expressed in lung,

stomach and muscle. Low levels in liver

SABiosciences Expression via Pathway-Focused PCR Arrays including GHR:

Nephrotoxicity in human mouse rat

Interferons & Receptors in human mouse rat

Obesity in human mouse rat

JAK / STAT Signaling Pathway in human mouse rat

Inflammatory Response & Autoimmunity 384HT in human mouse rat

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		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat GHR

In Situ
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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of chordates.

Orthologs for GHR gene from 5/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	Ghr^{1 , 5}	growth hormone receptor^{1, 5}	80.5(n)¹ 69.97(a)¹		15 (1.84 cM)⁵ 14600¹ NM_010284.2¹ NP_034414.2¹ 3317760⁵
chicken (Gallus gallus)	Aves	GHR¹	growth hormone receptor	69.26(n) 61.53(a)		408184 NM_001001293.1 NP_001001293.1
lizard (Anolis carolinensis)	Reptilia	GHR⁶	--	55(a)	1 ↔ 1	2(6285483-6297352)
African clawed frog (Xenopus laevis)	Amphibia	LOC398153²	growth hormone receptor	75.35(n)		AF193799.1
zebrafish (Danio rerio)	Actinopterygii	ghra¹	growth hormone receptor a	51.62(n) 43.46(a)		100001424 NM_001083578.1 NP_001077047.1

ENSEMBL Gene Tree for GHR (if available)
TreeFam Gene Tree for GHR (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
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Paralogs for GHR gene

PRLR²

GHR for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
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UniProtKB/Swiss-Prot: GHR_HUMAN, P10912

Polymorphism: Genetic variation in GHR may act as phenotype modifier in familial hypercholesterolemia [MIM:143890]

patients carrying a mutation in the LDLR gene

SNP ID	Valid	Clinical significance	Chr 5 pos	Sequence	#	AA Chg	Type	More	#	Pop	Total sample
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs6413484^1,2	C,F,H,	pathogenic	42651403(+)	`TGAACA/G/TTCAGT`	36	I V F	mis¹ ese³		16	MN NS EA NA EU CSAM	5752
rs121909362^1,2	C,F,	pathogenic	42651454(+)	`CACCAC/TGCAAT`	24	R C	mis¹		2	NA EU	5873
rs121909364^1,2	C,F	pathogenic	42662862(+)	`ATGGCA/G/TAGTTC`	36	K E *	mis¹ stg¹		1	NA	4552
rs45588036^1,2	C	pathogenic	42662864(+)	`TATGAG/CTTCAG`	24	/D /E	mis¹		2	NA	48
rs6180^1,2	C,F,A,H,	other	42719239(+)	`AGTGCA/CTCCCT`	22	I L	mis¹ ut3¹ ese³		52	MN EA NA NS EU CSAM WA	10793
rs34715471^1,2	C,F,	--	42373580(+)	`ACTCCG/ATCTGR`	1	--	us2k¹		5	NA EU CSAM EA	380
rs35903932^1,2	F	--	42373779(+)	`ACCCTG/CTCAGC`	1	--	us2k¹		5	MN	408
rs35728182^1,2	C,F,	--	42373872(+)	`GGTACC/GTCCCC`	1	--	us2k¹		6	MN WA	526
rs77848767^1,2	C,	--	42374051(+)	`AAACAC/TGCCCC`	1	--	us2k¹		2	NA	122
rs35604328^1,2	F	--	42374184(+)	`GAAAAT/CAGGGG`	3	--	us2k¹		5	MN	408

HapMap Linkage Disequilibrium report for GHR (42423879 - 42673879 bp, first 250kb of GHR)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 5 variations for GHR
5 CNVs: 43513 99119 93006 64191 80892
Human Gene Mutation Database (HGMD): GHR

Locus Specific Mutation Databases (LSDB): GHR

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(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

GHR for disorders           About GeneDecksing

OMIM gene information: 600946
OMIM disorders: 262500  604271  143890
UniProtKB/Swiss-Prot: GHR_HUMAN, P10912

Defects in GHR are a cause of Laron syndrome (LARS) [MIM:262500]. A severe form of growth hormone

insensitivity characterized by growth impairment, short stature, dysfunctional growth hormone receptor, and failure to

generate insulin-like growth factor I in response to growth hormone

Defects in GHR may be a cause of idiopathic short stature autosomal (ISSA) [MIM:604271]. Short stature is

defined by a subnormal rate of growth

20/119 diseases for GHR (see all 119): About MalaCards

laron syndrome short stature insulin-like growth factor i deficiency acid-labile subunit

growth hormone secreting pituitary adenoma hypercholesterolemia, familial, modification of increased responsiveness to growth hormone relapsing-remitting multiple sclerosis

growth hormone deficiency drug-induced hepatitis actinic keratosis proliferative diabetic retinopathy

severe combined immunodeficiency osteoporosis, postmenopausal pituitary adenoma mccune albright syndrome

glucose intolerance prader-willi syndrome plexiform neurofibroma laron dwarfism

3 diseases from the University of Copenhagen DISEASES database for GHR:

Laron syndrome Acromegaly Turner syndrome

10/94 Novoseek disease relationships for GHR gene (see all 94) About this table

Disease	-log (P-Val)	Hits	PubMed IDs for Articles with Shared Sentences (# sentences)
laron syndrome	96.6	185	12199334 (3), 17706034 (3), 7815422 (3), 15751611 (2) (see all 99)
acromegaly	89.9	129	12201832 (4), 12372843 (3), 10193608 (3), 19850678 (3) (see all 85)
short stature	85.8	114	17462934 (3), 16582564 (3), 9814495 (3), 7565946 (3) (see all 72)
dwarfism	78.7	50	2307733 (2), 8496320 (2), 9371826 (2), 1752341 (1) (see all 30)
growth failure	78.7	15	8421103 (1), 7686916 (1), 10102079 (1), 17405847 (1) (see all 11)
igf1 deficiency	73.4	3	11855684 (1), 18359741 (1), 9626125 (1)
growth retardation	65.4	17	1752341 (1), 16787985 (1), 17324920 (1), 20190552 (1) (see all 12)
growth hormone deficiency	65.2	1	11966735 (1)
growth disorders	61.7	9	12948293 (2), 7673403 (1), 19407498 (1), 11413990 (1) (see all 7)
renal cirrhosis	60.5	3	10720017 (1), 7509216 (1)

Genetic Association Database (GAD): GHR
Human Genome Epidemiology (HuGE) Navigator: GHR (94 documents)

Export disorders for GHR gene to outside databases

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for GHR gene, integrated from 9 sources (see all 1209):
(articles sorted by number of sources associating them with GHR)

Utopia: connect your pdf to the dynamic
world of online information

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)^{1, 2, 9} Ross R.J.... Finidori J. (1997)
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)^{1, 2, 9} Dastot F....Amselem S. (1996)
Growth hormone receptor mutations in children with idiopathic short stature. (PubMed id 9814495)^{1, 2, 9} Sanchez J.E.... Cleveland W.W. (1998)
Mutations of the growth hormone receptor in children with idiopathic short stature. (PubMed id 7565946)^{1, 2, 9} Goddard A.D.... Carlsson L.M.S. (1995)
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)^{1, 2, 9} Wojcik J.... Finidori J. (1998)
A membrane-fixed, truncated isoform of the human growth hormone receptor. (PubMed id 9360546)^{1, 2, 9} Amit T....Hochberg Z. (1997)
Functional interaction of common gamma-chain and growth hormone receptor signaling apparatus. (PubMed id 17082603)^{1, 7, 9} Adriani M....Pignata C. (2006)
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)^{1, 2, 9} Jorge A.A.L.... Mendonca B.B. (2004)
Nine novel growth hormone receptor gene mutations in patients with Laron syndrome. (PubMed id 9024232)^{1, 2, 9} Sobrier M.-L.... Amselem S. (1997)
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)^{1, 2, 9} Duquesnoy P....Amselem S. (1994)

(in PubMed, OMIM, and NCBI Bookshelf)
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		AND	OR
Aliases
Disorders
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2690	HGNC: 4263	AceView: GHR	Ensembl:ENSG00000112964	euGenes: HUgn2690
ECgene: GHR	Kegg: 2690	H-InvDB: GHR

(According to HUGE)
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(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for GHR	Pharmacogenomics, SNPs, Pathways
GeneReviews	http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/GHR

Intellectual Property for GHR gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for GHR gene:
Search GeneIP for patents involving GHR

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

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Hyperinsulinemia
Pituitary Tumors
LARON SYNDROME
Actinic keratosis
Puberty Delayed
Hyperlipidemia
Paralysis
Glucose Intolerance
insulin sensitivity
Liver diseases
PROTEIN MALNUTRITION
Turners Syndrome
Hyperthyroidism
Dwarfism
Hyperparathyroidism Secondary
Hypoglycemia
Adenocarcinoma
Cancer
Diabetes Mellitus Insulin-Dependent
premalignant
Hypopituitarism
mammary tumor
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RENAL DISEASE
Liver Failure
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Osteoporosis Postmenopausal
Inflammation
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Noonan Syndrome
SHORT STATURE
Insulinoma
immunodeficiency
Hepatitis
Hyperglycemia
Hypertrophy
hormone deficiency
Renal Failure
prostate cancer
Neurofibromatosis Type 1
FIBROUS DYSPLASIA
Mental Retardation
Metastasis
IGF1 DEFICIENCY
Small stature
Liver Cirrhosis
Fibrosarcoma
Necrosis
pituitary adenoma nonfunctioning
Hyperinsulinism
Colitis
Melanoma
insulin tolerance
Anorexia Nervosa
Hyperplasia
PITUITARY ADENOMA
Renal cirrhosis
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Carcinoma
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Acromegaly
PROSTATE CARCINOMA
Leukemia
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Osteosarcoma
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SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED
Biliary Atresia
Intrauterine Growth Retardation
Panhypopituitarism
hypercortisolism
Uremia
Papilledema
Proliferative diabetic retinopathy
growth hormone deficiency
Insulin Resistance
HIV Infections
Adenoma
benign prostatic hyperplasia
Lipodystrophy
OBESITY
Carcinoma Squamous Cell
Puberty Precocious
Apnea Sleep
associated conditions
STROKE
Retinal Neovascularization
chronic liver disease
genetic disorder
Growth retardation
Renal Failure Chronic

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growth hormone receptor

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