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GHR (growth hormone receptor)

Identity

Other namesGHBP
HGNC (Hugo) GHR
LocusID (NCBI) 2690
Location 5p13.1
Location_base_pair Starts at 42423877 and ends at 42721980 bp from pter ( according to hg19-Feb_2009)
Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 

External links

Nomenclature
HGNC (Hugo)GHR   4263
Cards
Entrez_Gene (NCBI)GHR  2690  growth hormone receptor
GeneCards (Weizmann)GHR
Ensembl hg19 (Hinxton)ENSG00000112964 [Gene_View]  chr5:42423877-42721980 [Contig_View]  GHR [Vega]
Ensembl hg38 (Hinxton)ENSG00000112964 [Gene_View]  chr5:42423877-42721980 [Contig_View]  GHR [Vega]
ICGC DataPortalENSG00000112964
cBioPortalGHR
AceView (NCBI)GHR
Genatlas (Paris)GHR
WikiGenes2690
SOURCE (Princeton)GHR
Genomic and cartography
GoldenPath hg19 (UCSC)GHR  -     chr5:42423877-42721980 +  5p13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)GHR  -     5p13.1   [Description]    (hg38-Dec_2013)
EnsemblGHR - 5p13.1 [CytoView hg19]  GHR - 5p13.1 [CytoView hg38]
Mapping of homologs : NCBIGHR [Mapview hg19]  GHR [Mapview hg38]
OMIM143890   262500   600946   604271   
Gene and transcription
Genbank (Entrez)AF230800 AF230801 BC136496 BM719293 BU625645
RefSeq transcript (Entrez)NM_000163 NM_001242399 NM_001242400 NM_001242401 NM_001242402 NM_001242403 NM_001242404 NM_001242405 NM_001242406 NM_001242460 NM_001242461 NM_001242462
RefSeq genomic (Entrez)AC_000137 NC_000005 NC_018916 NG_011688 NT_006576 NW_001838933 NW_004929321
Consensus coding sequences : CCDS (NCBI)GHR
Cluster EST : UnigeneHs.688223 [ NCBI ]
CGAP (NCI)Hs.688223
Alternative Splicing : Fast-db (Paris)GSHG0033980
Alternative Splicing GalleryENSG00000112964
Gene ExpressionGHR [ NCBI-GEO ]     GHR [ SEEK ]   GHR [ MEM ]
SOURCE (Princeton)Expression in : [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10912 (Uniprot)
NextProtP10912  [Medical]
With graphics : InterProP10912
Splice isoforms : SwissVarP10912 (Swissvar)
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_L_F1 (PS01352)   
Domains : Interpro (EBI)Fibronectin_type3    GHBP    Growth/epo_recpt_lig-bind    Ig-like_fold    Long_hematopoietin_rcpt_CS   
Related proteins : CluSTrP10912
Domain families : Pfam (Sanger)EpoR_lig-bind (PF09067)    fn3 (PF00041)    GHBP (PF12772)   
Domain families : Pfam (NCBI)pfam09067    pfam00041    pfam12772   
Domain families : Smart (EMBL)FN3 (SM00060)  
DMDM Disease mutations2690
Blocks (Seattle)P10912
PDB (SRS)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
PDB (PDBSum)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
PDB (IMB)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
PDB (RSDB)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
Human Protein AtlasENSG00000112964
Peptide AtlasP10912
HPRD02971
IPIIPI00023599   IPI00410327   IPI00410328   IPI00410329   IPI01014948   IPI01025239   IPI00966818   IPI00965917   
Protein Interaction databases
DIP (DOE-UCLA)P10912
IntAct (EBI)P10912
FunCoupENSG00000112964
BioGRIDGHR
IntegromeDBGHR
STRING (EMBL)GHR
Ontologies - Pathways
QuickGOP10912
Ontology : AmiGOactivation of MAPK activity  allantoin metabolic process  growth hormone receptor activity  protein binding  extracellular region  extracellular space  extracellular space  nucleus  mitochondrion  plasma membrane  integral component of plasma membrane  citrate metabolic process  2-oxoglutarate metabolic process  succinate metabolic process  oxaloacetate metabolic process  isoleucine metabolic process  valine metabolic process  creatine metabolic process  fatty acid metabolic process  endocytosis  JAK-STAT cascade  hormone-mediated signaling pathway  cell surface  integral component of membrane  peptide hormone binding  cytokine-mediated signaling pathway  taurine metabolic process  growth factor binding  extrinsic component of membrane  protein kinase binding  protein phosphatase binding  receptor internalization  receptor internalization  response to food  response to estradiol  cellular response to insulin stimulus  cellular response to hormone stimulus  regulation of multicellular organism growth  positive regulation of multicellular organism growth  SH2 domain binding  positive regulation of tyrosine phosphorylation of Stat3 protein  positive regulation of tyrosine phosphorylation of Stat5 protein  protein homodimerization activity  activation of JAK2 kinase activity  neuronal cell body  receptor complex  response to morphine  multicellular organismal metabolic process  positive regulation of cell differentiation  creatinine metabolic process  response to cycloheximide  response to cycloheximide  insulin-like growth factor receptor signaling pathway  positive regulation of peptidyl-tyrosine phosphorylation  response to glucocorticoid  cartilage development involved in endochondral bone morphogenesis  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  proline-rich region binding  growth hormone receptor complex  response to interleukin-1  negative regulation of neuron death  
Ontology : EGO-EBIactivation of MAPK activity  allantoin metabolic process  growth hormone receptor activity  protein binding  extracellular region  extracellular space  extracellular space  nucleus  mitochondrion  plasma membrane  integral component of plasma membrane  citrate metabolic process  2-oxoglutarate metabolic process  succinate metabolic process  oxaloacetate metabolic process  isoleucine metabolic process  valine metabolic process  creatine metabolic process  fatty acid metabolic process  endocytosis  JAK-STAT cascade  hormone-mediated signaling pathway  cell surface  integral component of membrane  peptide hormone binding  cytokine-mediated signaling pathway  taurine metabolic process  growth factor binding  extrinsic component of membrane  protein kinase binding  protein phosphatase binding  receptor internalization  receptor internalization  response to food  response to estradiol  cellular response to insulin stimulus  cellular response to hormone stimulus  regulation of multicellular organism growth  positive regulation of multicellular organism growth  SH2 domain binding  positive regulation of tyrosine phosphorylation of Stat3 protein  positive regulation of tyrosine phosphorylation of Stat5 protein  protein homodimerization activity  activation of JAK2 kinase activity  neuronal cell body  receptor complex  response to morphine  multicellular organismal metabolic process  positive regulation of cell differentiation  creatinine metabolic process  response to cycloheximide  response to cycloheximide  insulin-like growth factor receptor signaling pathway  positive regulation of peptidyl-tyrosine phosphorylation  response to glucocorticoid  cartilage development involved in endochondral bone morphogenesis  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  proline-rich region binding  growth hormone receptor complex  response to interleukin-1  negative regulation of neuron death  
Pathways : BIOCARTAThe IGF-1 Receptor and Longevity [Genes]    Trefoil Factors Initiate Mucosal Healing [Genes]    Regulation of eIF4e and p70 S6 Kinase [Genes]    AKT Signaling Pathway [Genes]    Growth Hormone Signaling Pathway [Genes]   
Pathways : KEGGCytokine-cytokine receptor interaction    Neuroactive ligand-receptor interaction    PI3K-Akt signaling pathway    Jak-STAT signaling pathway   
Protein Interaction DatabaseGHR
DoCM (Curated mutations)GHR
Wikipedia pathwaysGHR
Gene fusion - rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGHR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GHR
dbVarGHR
ClinVarGHR
1000_GenomesGHR 
Exome Variant ServerGHR
SNP (GeneSNP Utah)GHR
SNP : HGBaseGHR
Genetic variants : HAPMAPGHR
Genomic VariantsGHR  GHR [DGVbeta]
Mutations
ICGC Data PortalENSG00000112964 
Somatic Mutations in Cancer : COSMICGHR 
CONAN: Copy Number AnalysisGHR 
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:42423877-42721980
Mutations and Diseases : HGMDGHR
OMIM143890    262500    600946    604271   
MedgenGHR
NextProtP10912 [Medical]
GENETestsGHR
Disease Genetic AssociationGHR
Huge Navigator GHR [HugePedia]  GHR [HugeCancerGEM]
snp3D : Map Gene to Disease2690
DGIdb (Drug Gene Interaction db)GHR
General knowledge
Homologs : HomoloGeneGHR
Homology/Alignments : Family Browser (UCSC)GHR
Phylogenetic Trees/Animal Genes : TreeFamGHR
Chemical/Protein Interactions : CTD2690
Chemical/Pharm GKB GenePA28674
Clinical trialGHR
Cancer Resource (Charite)ENSG00000112964
Other databases
Probes
Litterature
PubMed264 Pubmed reference(s) in Entrez
CoreMineGHR
GoPubMedGHR
iHOPGHR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

Contributor(s)

Written09-2002Dessen P, Le Minor S
Updated12-2014Dessen P

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Dec 20 21:46:07 CET 2014

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