Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   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

INSR (insulin receptor)

Identity

Other namesCD220
HHF5
HGNC (Hugo) INSR
LocusID (NCBI) 3643
Atlas_Id 40986
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 7112266 and ends at 7294313 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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]  chr19:7112266-7294313 [Contig_View]  INSR [Vega]
Ensembl hg38 (Hinxton)ENSG00000171105 [Gene_View]  chr19:7112266-7294313 [Contig_View]  INSR [Vega]
ICGC DataPortalENSG00000171105
TCGA cBioPortalINSR
AceView (NCBI)INSR
Genatlas (Paris)INSR
WikiGenes3643
SOURCE (Princeton)INSR
Genomic and cartography
GoldenPath hg19 (UCSC)INSR  -     chr19:7112266-7294313 -  19p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)INSR  -     19p13.2   [Description]    (hg38-Dec_2013)
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)NC_000019 NC_018930 NG_008852 NT_011295 NW_004929412
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3643
GTEX Portal (Tissue expression)INSR
Protein : pattern, domain, 3D structure
UniProt/SwissProtP06213 (Uniprot)
NextProtP06213  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP06213
Splice isoforms : SwissVarP06213 (Swissvar)
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)FN3_dom    Furin-like_Cys-rich_dom    Furin_repeat    Growth_fac_rcpt_    Ig-like_fold    Kinase-like_dom    L_dom-like    Prot_kinase_dom    Protein_kinase_ATP_BS    Rcpt_L-dom    Ser-Thr/Tyr_kinase_cat_dom    Tyr_kinase_AS    Tyr_kinase_cat_dom    Tyr_kinase_insulin-like_rcpt    Tyr_kinase_rcpt_2_CS   
Domain families : Pfam (Sanger)fn3 (PF00041)    Furin-like (PF00757)    Pkinase_Tyr (PF07714)    Recep_L_domain (PF01030)   
Domain families : Pfam (NCBI)pfam00041    pfam00757    pfam07714    pfam01030   
Domain families : Smart (EMBL)FN3 (SM00060)  FU (SM00261)  TyrKc (SM00219)  
DMDM Disease mutations3643
Blocks (Seattle)INSR
PDB (SRS)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2DTG    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3LOH    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    5E1S   
PDB (PDBSum)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2DTG    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3LOH    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    5E1S   
PDB (IMB)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2DTG    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3LOH    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    5E1S   
PDB (RSDB)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2DTG    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3LOH    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    5E1S   
Structural Biology KnowledgeBase1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2DTG    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3LOH    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    5E1S   
SCOP (Structural Classification of Proteins)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2DTG    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3LOH    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    5E1S   
CATH (Classification of proteins structures)1GAG    1I44    1IR3    1IRK    1P14    1RQQ    2AUH    2B4S    2DTG    2HR7    2MFR    2Z8C    3BU3    3BU5    3BU6    3EKK    3EKN    3ETA    3LOH    3W11    3W12    3W13    3W14    4IBM    4OGA    4XLV    4XSS    4XST    5E1S   
SuperfamilyP06213
Human Protein AtlasENSG00000171105
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  negative regulation of protein phosphorylation  positive regulation of protein phosphorylation  heart morphogenesis  protein tyrosine kinase activity  protein tyrosine kinase activity  receptor signaling protein tyrosine kinase activity  insulin-activated receptor activity  insulin-like growth factor receptor binding  protein binding  ATP binding  GTP binding  nucleus  cytosol  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  response to manganese ion  regulation of hydrogen peroxide metabolic process  positive regulation of glycoprotein biosynthetic process  negative regulation of gene expression  response to activity  membrane  peptidyl-tyrosine phosphorylation  transformation of host cell by virus  protein phosphatase binding  signal transduction by protein phosphorylation  male sex determination  adrenal gland development  positive regulation of cell migration  exocrine pancreas development  lipoic acid binding  insulin-like growth factor I binding  insulin-like growth factor II binding  activation of protein kinase activity  activation of protein kinase B activity  response to estradiol  protein complex binding  negative regulation of transporter activity  cellular response to insulin stimulus  response to vitamin D  response to testosterone  response to tumor necrosis factor  peptidyl-tyrosine autophosphorylation  glucose homeostasis  intracellular membrane-bounded organelle  receptor complex  positive regulation of MAPK cascade  positive regulation of MAPK cascade  3-phosphoinositide-dependent protein kinase binding  phosphatidylinositol 3-kinase binding  insulin binding  insulin binding  insulin receptor substrate binding  synapse  positive regulation of nitric oxide biosynthetic process  fat cell differentiation  response to ethanol  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  response to glucocorticoid  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  negative regulation of protein phosphorylation  positive regulation of protein phosphorylation  heart morphogenesis  protein tyrosine kinase activity  protein tyrosine kinase activity  receptor signaling protein tyrosine kinase activity  insulin-activated receptor activity  insulin-like growth factor receptor binding  protein binding  ATP binding  GTP binding  nucleus  cytosol  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  response to manganese ion  regulation of hydrogen peroxide metabolic process  positive regulation of glycoprotein biosynthetic process  negative regulation of gene expression  response to activity  membrane  peptidyl-tyrosine phosphorylation  transformation of host cell by virus  protein phosphatase binding  signal transduction by protein phosphorylation  male sex determination  adrenal gland development  positive regulation of cell migration  exocrine pancreas development  lipoic acid binding  insulin-like growth factor I binding  insulin-like growth factor II binding  activation of protein kinase activity  activation of protein kinase B activity  response to estradiol  protein complex binding  negative regulation of transporter activity  cellular response to insulin stimulus  response to vitamin D  response to testosterone  response to tumor necrosis factor  peptidyl-tyrosine autophosphorylation  glucose homeostasis  intracellular membrane-bounded organelle  receptor complex  positive regulation of MAPK cascade  positive regulation of MAPK cascade  3-phosphoinositide-dependent protein kinase binding  phosphatidylinositol 3-kinase binding  insulin binding  insulin binding  insulin receptor substrate binding  synapse  positive regulation of nitric oxide biosynthetic process  fat cell differentiation  response to ethanol  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  response to glucocorticoid  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 : KEGGRas signaling pathway    Rap1 signaling pathway    HIF-1 signaling pathway    FoxO signaling pathway    PI3K-Akt signaling pathway    Adherens junction    Insulin signaling pathway    Ovarian steroidogenesis    Type II diabetes mellitus    Non-alcoholic fatty liver disease (NAFLD)    Aldosterone-regulated sodium reabsorption   
NDEx NetworkINSR
Atlas of Cancer Signalling NetworkINSR
Wikipedia pathwaysINSR
Orthology - Evolution
OrthoDB3643
GeneTree (enSembl)ENSG00000171105
Phylogenetic Trees/Animal Genes : TreeFamINSR
Homologs : HomoloGeneINSR
Homology/Alignments : Family Browser (UCSC)INSR
Gene fusions - Rearrangements
Fusion: TCGAMTMR4 17q22 INSR 19p13.2 BRCA
Polymorphisms : SNP, variants
NCBI Variation ViewerINSR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)INSR
dbVarINSR
ClinVarINSR
1000_GenomesINSR 
Exome Variant ServerINSR
ExAC (Exome Aggregation Consortium)INSR (select the gene name)
Genetic variants : HAPMAP3643
Genomic Variants (DGV)INSR [DGVbeta]
Mutations
ICGC Data PortalINSR 
TCGA Data PortalINSR 
Broad Tumor PortalINSR
OASIS PortalINSR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICINSR 
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
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)19:7112266-7294313  ENSG00000171105
CONAN: Copy Number AnalysisINSR 
Mutations and Diseases : HGMDINSR
OMIM147670    246200    262190    609968    610549   
MedgenINSR
Genetic Testing Registry INSR
NextProtP06213 [Medical]
TSGene3643
GENETestsINSR
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

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Sat Oct 1 15:58:04 CEST 2016

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

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.