Atlas of Genetics and Cytogenetics in Oncology and Haematology


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GHR (growth hormone receptor)

Identity

Alias (NCBI)GHBP
GHIP
HGNC (Hugo) GHR
HGNC Alias symbGHBP
HGNC Alias namegrowth hormone binding protein
LocusID (NCBI) 2690
Atlas_Id 43660
Location 5p12  [Link to chromosome band 5p12]
Location_base_pair Starts at 42565864 and ends at 42721878 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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

 



Other Leukemias implicated (Data extracted from papers in the Atlas) [ 2 ]
  t(9;14)(p24;q12) STRN3/JAK2
t(2;5)(q37;p13) HDAC4/GHR


External links

 

Nomenclature
HGNC (Hugo)GHR   4263
Cards
Entrez_Gene (NCBI)GHR    growth hormone receptor
AliasesGHBP; GHIP
GeneCards (Weizmann)GHR
Ensembl hg19 (Hinxton)ENSG00000112964 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112964 [Gene_View]  ENSG00000112964 [Sequence]  chr5:42565864-42721878 [Contig_View]  GHR [Vega]
ICGC DataPortalENSG00000112964
TCGA cBioPortalGHR
AceView (NCBI)GHR
Genatlas (Paris)GHR
SOURCE (Princeton)GHR
Genetics Home Reference (NIH)GHR
Genomic and cartography
GoldenPath hg38 (UCSC)GHR  -     chr5:42565864-42721878 +  5p12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)GHR  -     5p12   [Description]    (hg19-Feb_2009)
GoldenPathGHR - 5p12 [CytoView hg19]  GHR - 5p12 [CytoView hg38]
ImmunoBaseENSG00000112964
Genome Data Viewer NCBIGHR [Mapview hg19]  
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
Consensus coding sequences : CCDS (NCBI)GHR
Gene ExpressionGHR [ NCBI-GEO ]   GHR [ EBI - ARRAY_EXPRESS ]   GHR [ SEEK ]   GHR [ MEM ]
Gene Expression Viewer (FireBrowse)GHR [ Firebrowse - Broad ]
GenevisibleExpression of GHR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)2690
GTEX Portal (Tissue expression)GHR
Human Protein AtlasENSG00000112964-GHR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10912   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10912  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10912
PhosPhoSitePlusP10912
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    HEMATOPO_REC_L_F1 (PS01352)   
Domains : Interpro (EBI)FN3_dom    FN3_sf    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   
Conserved Domain (NCBI)GHR
PDB (RSDB)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR    5OEK    5OHD   
PDB Europe1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR    5OEK    5OHD   
PDB (PDBSum)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR    5OEK    5OHD   
PDB (IMB)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR    5OEK    5OHD   
Structural Biology KnowledgeBase1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR    5OEK    5OHD   
SCOP (Structural Classification of Proteins)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR    5OEK    5OHD   
CATH (Classification of proteins structures)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR    5OEK    5OHD   
SuperfamilyP10912
AlphaFold pdb e-kbP10912   
Human Protein Atlas [tissue]ENSG00000112964-GHR [tissue]
HPRD02971
Protein Interaction databases
DIP (DOE-UCLA)P10912
IntAct (EBI)P10912
BioGRIDGHR
STRING (EMBL)GHR
ZODIACGHR
Ontologies - Pathways
QuickGOP10912
Ontology : AmiGOactivation of MAPK activity  cytokine receptor activity  growth hormone receptor activity  protein binding  extracellular region  extracellular space  extracellular space  nucleus  mitochondrion  cytosol  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  endocytosis  receptor signaling pathway via JAK-STAT  hormone-mediated signaling pathway  external side of plasma membrane  cell surface  integral component of membrane  peptide hormone binding  peptide hormone binding  cytokine-mediated signaling pathway  taurine metabolic process  growth factor binding  protein kinase binding  protein phosphatase binding  cytokine binding  response to food  cellular response to insulin stimulus  cellular response to hormone stimulus  cytoplasmic ribonucleoprotein granule  regulation of multicellular organism growth  positive regulation of multicellular organism growth  SH2 domain binding  hormone metabolic process  positive regulation of tyrosine phosphorylation of STAT protein  identical protein binding  protein homodimerization activity  activation of Janus kinase activity  neuronal cell body  receptor complex  receptor complex  response to morphine  positive regulation of cell differentiation  positive regulation of receptor signaling pathway via JAK-STAT  insulin-like growth factor receptor signaling pathway  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of peptidyl-tyrosine phosphorylation  response to glucocorticoid  cartilage development involved in endochondral bone morphogenesis  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway via JAK-STAT  proline-rich region binding  growth hormone receptor complex  growth hormone receptor complex  response to interleukin-1  negative regulation of neuron death  
Ontology : EGO-EBIactivation of MAPK activity  cytokine receptor activity  growth hormone receptor activity  protein binding  extracellular region  extracellular space  extracellular space  nucleus  mitochondrion  cytosol  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  endocytosis  receptor signaling pathway via JAK-STAT  hormone-mediated signaling pathway  external side of plasma membrane  cell surface  integral component of membrane  peptide hormone binding  peptide hormone binding  cytokine-mediated signaling pathway  taurine metabolic process  growth factor binding  protein kinase binding  protein phosphatase binding  cytokine binding  response to food  cellular response to insulin stimulus  cellular response to hormone stimulus  cytoplasmic ribonucleoprotein granule  regulation of multicellular organism growth  positive regulation of multicellular organism growth  SH2 domain binding  hormone metabolic process  positive regulation of tyrosine phosphorylation of STAT protein  identical protein binding  protein homodimerization activity  activation of Janus kinase activity  neuronal cell body  receptor complex  receptor complex  response to morphine  positive regulation of cell differentiation  positive regulation of receptor signaling pathway via JAK-STAT  insulin-like growth factor receptor signaling pathway  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of peptidyl-tyrosine phosphorylation  response to glucocorticoid  cartilage development involved in endochondral bone morphogenesis  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway via JAK-STAT  proline-rich region binding  growth hormone receptor complex  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   
NDEx NetworkGHR
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
Fusion : QuiverGHR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerGHR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)GHR
dbVarGHR
ClinVarGHR
MonarchGHR
1000_GenomesGHR 
Exome Variant ServerGHR
GNOMAD BrowserENSG00000112964
Varsome BrowserGHR
ACMGGHR variants
VarityP10912
Genomic Variants (DGV)GHR [DGVbeta]
DECIPHERGHR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisGHR 
Mutations
ICGC Data PortalGHR 
TCGA Data PortalGHR 
Broad Tumor PortalGHR
OASIS PortalGHR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICGHR  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DGHR
Mutations and Diseases : HGMDGHR
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaGHR
DgiDB (Drug Gene Interaction Database)GHR
DoCM (Curated mutations)GHR
CIViC (Clinical Interpretations of Variants in Cancer)GHR
Cancer3DGHR
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM143890    262500    600946    604271   
Orphanet3250    21532   
DisGeNETGHR
MedgenGHR
Genetic Testing Registry GHR
NextProtP10912 [Medical]
GENETestsGHR
Target ValidationGHR
Huge Navigator GHR [HugePedia]
ClinGenGHR
Clinical trials, drugs, therapy
MyCancerGenomeGHR
Protein Interactions : CTDGHR
Pharm GKB GenePA28674
PharosP10912
Clinical trialGHR
Miscellaneous
canSAR (ICR)GHR
HarmonizomeGHR
DataMed IndexGHR
Probes
Litterature
PubMed327 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXGHR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Oct 4 15:10:43 CEST 2021

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