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GHR (growth hormone receptor)

Identity

Other namesGHBP
GHIP
HGNC (Hugo) GHR
LocusID (NCBI) 2690
Atlas_Id 43660
Location 5p13.1
Location_base_pair Starts at 42423877 and ends at 42721980 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
GHR (5p13.1) / H2AFY (5q31.1)LRRC8C (1p22.2) / GHR (5p13.1)NNT (5p12) / GHR (5p13.1)

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
AliasesGHBP; GHIP
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
TCGA 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   
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)NC_000005 NC_018916 NG_011688 NT_006576 NW_004929321
Consensus coding sequences : CCDS (NCBI)GHR
Cluster EST : UnigeneHs.688223 [ NCBI ]
CGAP (NCI)Hs.688223
Alternative Splicing GalleryENSG00000112964
Gene ExpressionGHR [ NCBI-GEO ]   GHR [ EBI - ARRAY_EXPRESS ]   GHR [ SEEK ]   GHR [ MEM ]
Gene Expression Viewer (FireBrowse)GHR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2690
GTEX Portal (Tissue expression)GHR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10912 (Uniprot)
NextProtP10912  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10912
Splice isoforms : SwissVarP10912 (Swissvar)
PhosPhoSitePlusP10912
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_L_F1 (PS01352)   
Domains : Interpro (EBI)FN3_dom    GHBP    Growth/epo_recpt_lig-bind    Ig-like_fold    Long_hematopoietin_rcpt_CS   
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)GHR
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   
Structural Biology KnowledgeBase1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
SCOP (Structural Classification of Proteins)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
CATH (Classification of proteins structures)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
SuperfamilyP10912
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
STRING (EMBL)GHR
ZODIACGHR
Ontologies - Pathways
QuickGOP10912
Ontology : AmiGOactivation of MAPK activity  allantoin metabolic process  cytokine receptor activity  protein binding  extracellular region  extracellular space  extracellular space  intracellular  intracellular  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  cell surface  integral component of membrane  peptide hormone binding  cytokine-mediated signaling pathway  taurine metabolic process  growth factor binding  protein kinase binding  receptor internalization  receptor internalization  response to estradiol  cellular response to hormone stimulus  regulation of multicellular organism growth  positive regulation of multicellular organism growth  positive regulation of tyrosine phosphorylation of Stat3 protein  positive regulation of tyrosine phosphorylation of Stat5 protein  protein homodimerization activity  activation of JAK2 kinase activity  receptor complex  multicellular organism metabolic process  creatinine metabolic process  response to cycloheximide  response to cycloheximide  insulin-like growth factor receptor signaling pathway  positive regulation of peptidyl-tyrosine phosphorylation  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  proline-rich region binding  growth hormone receptor complex  
Ontology : EGO-EBIactivation of MAPK activity  allantoin metabolic process  cytokine receptor activity  protein binding  extracellular region  extracellular space  extracellular space  intracellular  intracellular  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  cell surface  integral component of membrane  peptide hormone binding  cytokine-mediated signaling pathway  taurine metabolic process  growth factor binding  protein kinase binding  receptor internalization  receptor internalization  response to estradiol  cellular response to hormone stimulus  regulation of multicellular organism growth  positive regulation of multicellular organism growth  positive regulation of tyrosine phosphorylation of Stat3 protein  positive regulation of tyrosine phosphorylation of Stat5 protein  protein homodimerization activity  activation of JAK2 kinase activity  receptor complex  multicellular organism metabolic process  creatinine metabolic process  response to cycloheximide  response to cycloheximide  insulin-like growth factor receptor signaling pathway  positive regulation of peptidyl-tyrosine phosphorylation  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  proline-rich region binding  growth hormone receptor complex  
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   
NDEx Network
Atlas of Cancer Signalling NetworkGHR
Wikipedia pathwaysGHR
Orthology - Evolution
OrthoDB2690
GeneTree (enSembl)ENSG00000112964
Phylogenetic Trees/Animal Genes : TreeFamGHR
Homologs : HomoloGeneGHR
Homology/Alignments : Family Browser (UCSC)GHR
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerGHR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GHR
dbVarGHR
ClinVarGHR
1000_GenomesGHR 
Exome Variant ServerGHR
ExAC (Exome Aggregation Consortium)GHR (select the gene name)
Genetic variants : HAPMAP2690
Genomic Variants (DGV)GHR [DGVbeta]
Mutations
ICGC Data PortalGHR 
TCGA Data PortalGHR 
Broad Tumor PortalGHR
OASIS PortalGHR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGHR 
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
BioMutasearch GHR
DgiDB (Drug Gene Interaction Database)GHR
DoCM (Curated mutations)GHR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)GHR (select a term)
intoGenGHR
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)5:42423877-42721980  ENSG00000112964
CONAN: Copy Number AnalysisGHR 
Mutations and Diseases : HGMDGHR
OMIM143890    262500    600946   
MedgenGHR
Genetic Testing Registry GHR
NextProtP10912 [Medical]
TSGene2690
GENETestsGHR
Huge Navigator GHR [HugePedia]
snp3D : Map Gene to Disease2690
BioCentury BCIQGHR
ClinGenGHR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD2690
Chemical/Pharm GKB GenePA28674
Clinical trialGHR
Miscellaneous
canSAR (ICR)GHR (select the gene name)
Probes
Litterature
PubMed286 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineGHR
EVEXGHR
GoPubMedGHR
iHOPGHR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat May 28 11:03:55 CEST 2016

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