Atlas of Genetics and Cytogenetics in Oncology and Haematology


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INSR (insulin receptor)

Identity

Alias_symbol (synonym)CD220
Other aliasHHF5
HGNC (Hugo) INSR
LocusID (NCBI) 3643
Atlas_Id 40986
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7112255 and ends at 7294302 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)
ARHGEF18 (19p13.2) / INSR (19p13.2)CHN2 (7p14.3) / INSR (19p13.2)EZR (6q25.3) / INSR (19p13.2)
INSR (19p13.2) / INSR (19p13.2)INSR (19p13.2) / MYADM (19q13.42)INSR (19p13.2) / NRXN2 (11q13.1)
INSR (19p13.2) / SEPT6 (Xq24)KIFC3 (16q21) / INSR (19p13.2)LGR5 (12q21.1) / INSR (19p13.2)
MAP2K2 (19p13.3) / INSR (19p13.2)MTMR4 (17q22) / INSR (19p13.2)MTMR4 17q22 / INSR 19p13.2

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(6;20)(q13;q12) LMBRD1/CHD6


External links

Nomenclature
HGNC (Hugo)INSR   6091
Cards
Entrez_Gene (NCBI)INSR  3643  insulin receptor
AliasesCD220; HHF5
GeneCards (Weizmann)INSR
Ensembl hg19 (Hinxton)ENSG00000171105 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000171105 [Gene_View]  chr19:7112255-7294302 [Contig_View]  INSR [Vega]
ICGC DataPortalENSG00000171105
TCGA cBioPortalINSR
AceView (NCBI)INSR
Genatlas (Paris)INSR
WikiGenes3643
SOURCE (Princeton)INSR
Genetics Home Reference (NIH)INSR
Genomic and cartography
GoldenPath hg38 (UCSC)INSR  -     chr19:7112255-7294302 -  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)INSR  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblINSR - 19p13.2 [CytoView hg19]  INSR - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIINSR [Mapview hg19]  INSR [Mapview hg38]
OMIM147670   246200   262190   609968   610549   
Gene and transcription
Genbank (Entrez)AB208861 AK025527 AK300332 AL365454 BC047591
RefSeq transcript (Entrez)NM_000208 NM_001079817
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)INSR
Cluster EST : UnigeneHs.465744 [ NCBI ]
CGAP (NCI)Hs.465744
Alternative Splicing GalleryENSG00000171105
Gene ExpressionINSR [ NCBI-GEO ]   INSR [ EBI - ARRAY_EXPRESS ]   INSR [ SEEK ]   INSR [ MEM ]
Gene Expression Viewer (FireBrowse)INSR [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3643
GTEX Portal (Tissue expression)INSR
Human Protein AtlasENSG00000171105-INSR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06213   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP06213  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP06213
Splice isoforms : SwissVarP06213
Catalytic activity : Enzyme2.7.10.1 [ Enzyme-Expasy ]   2.7.10.12.7.10.1 [ IntEnz-EBI ]   2.7.10.1 [ BRENDA ]   2.7.10.1 [ KEGG ]   
PhosPhoSitePlusP06213
Domaine pattern : Prosite (Expaxy)FN3 (PS50853)    PROTEIN_KINASE_ATP (PS00107)    PROTEIN_KINASE_DOM (PS50011)    PROTEIN_KINASE_TYR (PS00109)    RECEPTOR_TYR_KIN_II (PS00239)   
Domains : Interpro (EBI)###############################################################################################################################################################################################################################################################                                                           
Domain families : Pfam (Sanger)Furin-like (PF00757)    Pkinase_Tyr (PF07714)    Recep_L_domain (PF01030)   
Domain families : Pfam (NCBI)pfam00757    pfam07714    pfam01030   
Domain families : Smart (EMBL)FN3 (SM00060)  FU (SM00261)  TyrKc (SM00219)  
Conserved Domain (NCBI)INSR
DMDM Disease mutations3643
Blocks (Seattle)INSR
PDB (SRS)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    4ZXB    5E1S    5HHW    5J3H   
PDB (PDBSum)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    4ZXB    5E1S    5HHW    5J3H   
PDB (IMB)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    4ZXB    5E1S    5HHW    5J3H   
PDB (RSDB)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    4ZXB    5E1S    5HHW    5J3H   
Structural Biology KnowledgeBase1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    4ZXB    5E1S    5HHW    5J3H   
SCOP (Structural Classification of Proteins)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    4ZXB    5E1S    5HHW    5J3H   
CATH (Classification of proteins structures)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    4ZXB    5E1S    5HHW    5J3H   
SuperfamilyP06213
Human Protein Atlas [tissue]ENSG00000171105-INSR [tissue]
Peptide AtlasP06213
HPRD00975
IPIIPI00220325   IPI00930161   IPI01010929   IPI00930138   IPI00025803   
Protein Interaction databases
DIP (DOE-UCLA)P06213
IntAct (EBI)P06213
FunCoupENSG00000171105
BioGRIDINSR
STRING (EMBL)INSR
ZODIACINSR
Ontologies - Pathways
QuickGOP06213
Ontology : AmiGOactivation of MAPK activity  positive regulation of protein phosphorylation  heart morphogenesis  protein tyrosine kinase activity  protein tyrosine kinase activity  signal transducer, downstream of receptor, with protein tyrosine kinase activity  insulin-activated receptor activity  insulin-like growth factor receptor binding  protein binding  ATP binding  GTP binding  plasma membrane  plasma membrane  integral component of plasma membrane  insulin receptor complex  caveola  carbohydrate metabolic process  regulation of transcription, DNA-templated  G-protein coupled receptor signaling pathway  positive regulation of cell proliferation  positive regulation of cell proliferation  insulin receptor signaling pathway  insulin receptor signaling pathway  epidermis development  male gonad development  endosome membrane  membrane  peptidyl-tyrosine phosphorylation  transformation of host cell by virus  protein domain specific binding  signal transduction by protein phosphorylation  male sex determination  adrenal gland development  positive regulation of cell migration  exocrine pancreas development  insulin-like growth factor I binding  insulin-like growth factor II binding  activation of protein kinase activity  activation of protein kinase B activity  cellular response to insulin stimulus  intracellular signal transduction  peptidyl-tyrosine autophosphorylation  glucose homeostasis  receptor complex  positive regulation of MAPK cascade  positive regulation of MAPK cascade  phosphatidylinositol 3-kinase binding  insulin binding  insulin binding  insulin receptor substrate binding  positive regulation of nitric oxide biosynthetic process  positive regulation of glycogen biosynthetic process  positive regulation of DNA replication  positive regulation of glycolytic process  positive regulation of mitotic nuclear division  positive regulation of transcription, DNA-templated  regulation of embryonic development  positive regulation of glucose import  positive regulation of glucose import  protein autophosphorylation  protein autophosphorylation  positive regulation of developmental growth  protein heterotetramerization  PTB domain binding  positive regulation of meiotic cell cycle  positive regulation of protein kinase B signaling  positive regulation of respiratory burst  extracellular exosome  cellular response to growth factor stimulus  regulation of female gonad development  
Ontology : EGO-EBIactivation of MAPK activity  positive regulation of protein phosphorylation  heart morphogenesis  protein tyrosine kinase activity  protein tyrosine kinase activity  signal transducer, downstream of receptor, with protein tyrosine kinase activity  insulin-activated receptor activity  insulin-like growth factor receptor binding  protein binding  ATP binding  GTP binding  plasma membrane  plasma membrane  integral component of plasma membrane  insulin receptor complex  caveola  carbohydrate metabolic process  regulation of transcription, DNA-templated  G-protein coupled receptor signaling pathway  positive regulation of cell proliferation  positive regulation of cell proliferation  insulin receptor signaling pathway  insulin receptor signaling pathway  epidermis development  male gonad development  endosome membrane  membrane  peptidyl-tyrosine phosphorylation  transformation of host cell by virus  protein domain specific binding  signal transduction by protein phosphorylation  male sex determination  adrenal gland development  positive regulation of cell migration  exocrine pancreas development  insulin-like growth factor I binding  insulin-like growth factor II binding  activation of protein kinase activity  activation of protein kinase B activity  cellular response to insulin stimulus  intracellular signal transduction  peptidyl-tyrosine autophosphorylation  glucose homeostasis  receptor complex  positive regulation of MAPK cascade  positive regulation of MAPK cascade  phosphatidylinositol 3-kinase binding  insulin binding  insulin binding  insulin receptor substrate binding  positive regulation of nitric oxide biosynthetic process  positive regulation of glycogen biosynthetic process  positive regulation of DNA replication  positive regulation of glycolytic process  positive regulation of mitotic nuclear division  positive regulation of transcription, DNA-templated  regulation of embryonic development  positive regulation of glucose import  positive regulation of glucose import  protein autophosphorylation  protein autophosphorylation  positive regulation of developmental growth  protein heterotetramerization  PTB domain binding  positive regulation of meiotic cell cycle  positive regulation of protein kinase B signaling  positive regulation of respiratory burst  extracellular exosome  cellular response to growth factor stimulus  regulation of female gonad development  
Pathways : BIOCARTAInsulin Signaling Pathway [Genes]    Control of skeletal myogenesis by HDAC & calcium/calmodulin-dependent kinase (CaMK) [Genes]    Growth Hormone Signaling Pathway [Genes]   
Pathways : KEGG   
NDEx NetworkINSR
Atlas of Cancer Signalling NetworkINSR
Wikipedia pathwaysINSR
Orthology - Evolution
OrthoDB3643
GeneTree (enSembl)ENSG00000171105
Phylogenetic Trees/Animal Genes : TreeFamINSR
HOVERGENP06213
HOGENOMP06213
Homologs : HomoloGeneINSR
Homology/Alignments : Family Browser (UCSC)INSR
Gene fusions - Rearrangements
Fusion : MitelmanMTMR4/INSR [17q22/19p13.2]  [t(17;19)(q22;p13)]  
Fusion: TCGA_MDACCMTMR4 17q22 INSR 19p13.2 BRCA
Tumor Fusion PortalINSR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerINSR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)INSR
dbVarINSR
ClinVarINSR
1000_GenomesINSR 
Exome Variant ServerINSR
ExAC (Exome Aggregation Consortium)ENSG00000171105
GNOMAD BrowserENSG00000171105
Genetic variants : HAPMAP3643
Genomic Variants (DGV)INSR [DGVbeta]
DECIPHERINSR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisINSR 
Mutations
ICGC Data PortalINSR 
TCGA Data PortalINSR 
Broad Tumor PortalINSR
OASIS PortalINSR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICINSR  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDINSR
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch INSR
DgiDB (Drug Gene Interaction Database)INSR
DoCM (Curated mutations)INSR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)INSR (select a term)
intoGenINSR
Cancer3DINSR(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM147670    246200    262190    609968    610549   
Orphanet172    1251    20057    2707   
DisGeNETINSR
MedgenINSR
Genetic Testing Registry INSR
NextProtP06213 [Medical]
TSGene3643
GENETestsINSR
Target ValidationINSR
Huge Navigator INSR [HugePedia]
snp3D : Map Gene to Disease3643
BioCentury BCIQINSR
ClinGenINSR
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3643
Chemical/Pharm GKB GenePA202
Clinical trialINSR
Miscellaneous
canSAR (ICR)INSR (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineINSR
EVEXINSR
GoPubMedINSR
iHOPINSR
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:17:57 CET 2017

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