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KL (klotho)

Identity

Other names-
HGNC (Hugo) KL
LocusID (NCBI) 9365
Atlas_Id 50639
Location 13q13.1  [Link to chromosome band 13q13]
Location_base_pair Starts at 33590571 and ends at 33640282 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
MTMR6 (13q12.13) / KL (13q13.1)

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)KL   6344
Cards
Entrez_Gene (NCBI)KL  9365  klotho
Aliases
GeneCards (Weizmann)KL
Ensembl hg19 (Hinxton)ENSG00000133116 [Gene_View]  chr13:33590571-33640282 [Contig_View]  KL [Vega]
Ensembl hg38 (Hinxton)ENSG00000133116 [Gene_View]  chr13:33590571-33640282 [Contig_View]  KL [Vega]
ICGC DataPortalENSG00000133116
TCGA cBioPortalKL
AceView (NCBI)KL
Genatlas (Paris)KL
WikiGenes9365
SOURCE (Princeton)KL
Genomic and cartography
GoldenPath hg19 (UCSC)KL  -     chr13:33590571-33640282 +  13q13.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)KL  -     13q13.1   [Description]    (hg38-Dec_2013)
EnsemblKL - 13q13.1 [CytoView hg19]  KL - 13q13.1 [CytoView hg38]
Mapping of homologs : NCBIKL [Mapview hg19]  KL [Mapview hg38]
OMIM604824   
Gene and transcription
Genbank (Entrez)AA890465 AB005142 AK097349 CB988086
RefSeq transcript (Entrez)NM_004795 NM_153683
RefSeq genomic (Entrez)NC_000013 NC_018924 NG_011485 NT_024524 NW_004929388
Consensus coding sequences : CCDS (NCBI)KL
Cluster EST : UnigeneHs.524953 [ NCBI ]
CGAP (NCI)Hs.524953
Alternative Splicing GalleryENSG00000133116
Gene ExpressionKL [ NCBI-GEO ]   KL [ EBI - ARRAY_EXPRESS ]   KL [ SEEK ]   KL [ MEM ]
Gene Expression Viewer (FireBrowse)KL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9365
GTEX Portal (Tissue expression)KL
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UEF7 (Uniprot)
NextProtQ9UEF7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UEF7
Splice isoforms : SwissVarQ9UEF7 (Swissvar)
Catalytic activity : Enzyme3.2.1.31 [ Enzyme-Expasy ]   3.2.1.313.2.1.31 [ IntEnz-EBI ]   3.2.1.31 [ BRENDA ]   3.2.1.31 [ KEGG ]   
PhosPhoSitePlusQ9UEF7
Domaine pattern : Prosite (Expaxy)GLYCOSYL_HYDROL_F1_2 (PS00653)   
Domains : Interpro (EBI)Glyco_hydro_1    Glyco_hydro_1_N_CS    Glyco_hydro_catalytic_dom    Glycoside_hydrolase_SF    Klotho   
Domain families : Pfam (Sanger)Glyco_hydro_1 (PF00232)   
Domain families : Pfam (NCBI)pfam00232   
DMDM Disease mutations9365
Blocks (Seattle)KL
SuperfamilyQ9UEF7
Human Protein AtlasENSG00000133116
Peptide AtlasQ9UEF7
HPRD05316
IPIIPI00295265   IPI00170818   IPI01009167   
Protein Interaction databases
DIP (DOE-UCLA)Q9UEF7
IntAct (EBI)Q9UEF7
FunCoupENSG00000133116
BioGRIDKL
STRING (EMBL)KL
ZODIACKL
Ontologies - Pathways
QuickGOQ9UEF7
Ontology : AmiGOMAPK cascade  beta-glucuronidase activity  signal transducer activity  Ras guanyl-nucleotide exchange factor activity  fibroblast growth factor receptor binding  hormone activity  vitamin D binding  extracellular region  extracellular space  extracellular space  intracellular  plasma membrane  integral component of plasma membrane  carbohydrate metabolic process  energy reserve metabolic process  aging  insulin receptor signaling pathway  beta-glucosidase activity  fibroblast growth factor receptor signaling pathway  fibroblast growth factor receptor signaling pathway  regulation of phosphatidylinositol 3-kinase signaling  integral component of membrane  1-phosphatidylinositol-3-kinase activity  apical plasma membrane  fibroblast growth factor binding  positive regulation of bone mineralization  phosphatidylinositol-3-phosphate biosynthetic process  positive regulation of GTPase activity  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  phosphatidylinositol-mediated signaling  calcium ion homeostasis  extracellular exosome  positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway  glycosyl compound metabolic process  
Ontology : EGO-EBIMAPK cascade  beta-glucuronidase activity  signal transducer activity  Ras guanyl-nucleotide exchange factor activity  fibroblast growth factor receptor binding  hormone activity  vitamin D binding  extracellular region  extracellular space  extracellular space  intracellular  plasma membrane  integral component of plasma membrane  carbohydrate metabolic process  energy reserve metabolic process  aging  insulin receptor signaling pathway  beta-glucosidase activity  fibroblast growth factor receptor signaling pathway  fibroblast growth factor receptor signaling pathway  regulation of phosphatidylinositol 3-kinase signaling  integral component of membrane  1-phosphatidylinositol-3-kinase activity  apical plasma membrane  fibroblast growth factor binding  positive regulation of bone mineralization  phosphatidylinositol-3-phosphate biosynthetic process  positive regulation of GTPase activity  phosphatidylinositol phosphorylation  phosphatidylinositol-4,5-bisphosphate 3-kinase activity  phosphatidylinositol-mediated signaling  calcium ion homeostasis  extracellular exosome  positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway  glycosyl compound metabolic process  
Pathways : KEGGPentose and glucuronate interconversions    Starch and sucrose metabolism    Endocrine and other factor-regulated calcium reabsorption   
NDEx NetworkKL
Atlas of Cancer Signalling NetworkKL
Wikipedia pathwaysKL
Orthology - Evolution
OrthoDB9365
GeneTree (enSembl)ENSG00000133116
Phylogenetic Trees/Animal Genes : TreeFamKL
Homologs : HomoloGeneKL
Homology/Alignments : Family Browser (UCSC)KL
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerKL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)KL
dbVarKL
ClinVarKL
1000_GenomesKL 
Exome Variant ServerKL
ExAC (Exome Aggregation Consortium)KL (select the gene name)
Genetic variants : HAPMAP9365
Genomic Variants (DGV)KL [DGVbeta]
Mutations
ICGC Data PortalKL 
TCGA Data PortalKL 
Broad Tumor PortalKL
OASIS PortalKL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICKL 
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)The Globin Gene Server
BioMutasearch KL
DgiDB (Drug Gene Interaction Database)KL
DoCM (Curated mutations)KL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)KL (select a term)
intoGenKL
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)13:33590571-33640282  ENSG00000133116
CONAN: Copy Number AnalysisKL 
Mutations and Diseases : HGMDKL
OMIM604824   
MedgenKL
Genetic Testing Registry KL
NextProtQ9UEF7 [Medical]
TSGene9365
GENETestsKL
Huge Navigator KL [HugePedia]
snp3D : Map Gene to Disease9365
BioCentury BCIQKL
ClinGenKL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9365
Chemical/Pharm GKB GenePA30130
Clinical trialKL
Miscellaneous
canSAR (ICR)KL (select the gene name)
Probes
Litterature
PubMed225 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineKL
EVEXKL
GoPubMedKL
iHOPKL
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 : Mon Sep 19 18:56:33 CEST 2016

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