Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

GHR (growth hormone receptor)

Identity

Alias_symbol (synonym)GHBP
Other aliasGHIP
HGNC (Hugo) GHR
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) [ 1 ]
  t(2;5)(q37;p13) HDAC4/GHR


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]
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
WikiGenes2690
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
Mapping of homologs : NCBIGHR [Mapview hg19]  GHR [Mapview hg38]
OMIM143890   262500   600946   604271   615925   
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)
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]
GenevestigatorExpression 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
Splice isoforms : SwissVarP10912
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
DMDM Disease mutations2690
Blocks (Seattle)GHR
PDB (RSDB)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
PDB Europe1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
PDB (PDBSum)1A22    1AXI    1HWG    1HWH    1KF9    2AEW    3HHR   
PDB (IMB)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 Atlas [tissue]ENSG00000112964-GHR [tissue]
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  cytokine receptor activity  growth hormone receptor activity  protein binding  extracellular region  extracellular space  extracellular space  cytosol  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  endocytosis  JAK-STAT cascade  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  cytokine binding  cellular response to hormone stimulus  cytoplasmic ribonucleoprotein granule  regulation of multicellular organism growth  positive regulation of multicellular organism growth  hormone metabolic process  positive regulation of tyrosine phosphorylation of STAT protein  identical protein binding  protein homodimerization activity  activation of Janus kinase activity  receptor complex  receptor complex  positive regulation of JAK-STAT cascade  insulin-like growth factor receptor signaling pathway  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of peptidyl-tyrosine phosphorylation  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  proline-rich region binding  growth hormone receptor complex  growth hormone receptor complex  
Ontology : EGO-EBIactivation of MAPK activity  cytokine receptor activity  growth hormone receptor activity  protein binding  extracellular region  extracellular space  extracellular space  cytosol  cytosol  plasma membrane  plasma membrane  integral component of plasma membrane  endocytosis  JAK-STAT cascade  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  cytokine binding  cellular response to hormone stimulus  cytoplasmic ribonucleoprotein granule  regulation of multicellular organism growth  positive regulation of multicellular organism growth  hormone metabolic process  positive regulation of tyrosine phosphorylation of STAT protein  identical protein binding  protein homodimerization activity  activation of Janus kinase activity  receptor complex  receptor complex  positive regulation of JAK-STAT cascade  insulin-like growth factor receptor signaling pathway  positive regulation of peptidyl-tyrosine phosphorylation  positive regulation of peptidyl-tyrosine phosphorylation  growth hormone receptor signaling pathway  growth hormone receptor signaling pathway  JAK-STAT cascade involved in growth hormone signaling pathway  proline-rich region binding  growth hormone receptor complex  growth hormone receptor complex  
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
HOGENOMP10912
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
1000_GenomesGHR 
Exome Variant ServerGHR
ExAC (Exome Aggregation Consortium)ENSG00000112964
GNOMAD BrowserENSG00000112964
Varsome BrowserGHR
Genetic variants : HAPMAP2690
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)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
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
Cancer3DGHR(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM143890    262500    600946    604271    615925   
Orphanet3250    21532   
DisGeNETGHR
MedgenGHR
Genetic Testing Registry GHR
NextProtP10912 [Medical]
TSGene2690
GENETestsGHR
Target ValidationGHR
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)
DataMed IndexGHR
Probes
Litterature
PubMed319 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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Nov 13 17:44:48 CET 2019

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.