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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

KL Gene

protein-coding   GIFtS: 66
GCID: GC13P033590

Klotho

  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
About This Section

Aliases
klotho1 2
KLOTHO5
EC 3.2.1.313 8
EC 3.2.18

External Ids:    HGNC: 63441   Entrez Gene: 93652   Ensembl: ENSG000001331167   OMIM: 6048245   UniProtKB: Q9UEF73   

Export aliases for KL gene to outside databases

Previous GC identifers: GC13P031576 GC13P027577 GC13P032526 GC13P031388 GC13P032488 GC13P014401


(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

Entrez Gene summary for KL Gene:
This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this
protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors
underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also,
mutations within this protein have been associated with ageing and bone loss. (provided by RefSeq, Jul 2008)

GeneCards Summary for KL Gene: 
KL (klotho) is a protein-coding gene. Diseases associated with KL include hyperphosphatemic familial tumoral calcinosis, kl-related, and arteriosclerosis, and among its related super-pathways are Signaling by FGFR and Constitutive PI3K/AKT Signaling in Cancer. GO annotations related to this gene include cation binding and signal transducer activity. An important paralog of this gene is KLB.

UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
Function: May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active
site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be
involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D
(By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity)
Function: The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating
hormone which would extend life span by inhibiting insulin/IGF1 signaling (By similarity)

Gene Wiki entry for KL (Klotho) Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000013.10  NC_018924.2  NT_024524.14  
Regulatory elements:
   SABiosciences Regulatory transcription factor binding sites in the KL gene promoter:
         GR   PPAR-gamma1   p53   AP-1   GR-alpha   PPAR-gamma2   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidKL promoter sequence
   Search SABiosciences Chromatin IP Primers for KL

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KL


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 13q12   Ensembl cytogenetic band:  13q13.1   HGNC cytogenetic band: 13q12

KL Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KL gene location

GeneLoc information about chromosome 13         GeneLoc Exon Structure

GeneLoc location for GC13P033590:  view genomic region     (about GC identifiers)

Start:
33,590,207 bp from pter      End:
33,640,282 bp from pter
Size:
50,076 bases      Orientation:
plus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MAXQB RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7 (See protein sequence)
Recommended Name: Klotho precursor  
Size: 1012 amino acids; 116181 Da
Subunit: Homodimer (By similarity). Interacts with FGF23 and FGFR1 (By similarity)
Subcellular location: Isoform 1: Cell membrane; Single-pass type I membrane protein. Note=Isoform 1 shedding leads
to a soluble peptide
Subcellular location: Isoform 2: Secreted
Subcellular location: Klotho peptide: Secreted
Miscellaneous: Defects in KL may be a cause of chronic renal failure complications
Secondary accessions: Q5VZ95 Q96KV5 Q96KW5 Q9UEI9 Q9Y4F0
Alternative splicing: 2 isoforms:  Q9UEF7-1   Q9UEF7-2   (Predominates over the membrane form in all tissues examined)

Explore the universe of human proteins at neXtProt for KL: NX_Q9UEF7

Explore proteomics data for KL at MOPED 

Post-translational modifications:

  • UniProtKB: N-glycosylated (By similarity)
  • View modification sites using PhosphoSitePlus
  • View neXtProt modification sites for NX_Q9UEF7

  • 4/7 DME Specific Peptides for KL (Q9UEF7) (see all 7)
     GLFYVDF  YRFSISW  VKYWITI  YGGWANRA 

    KL Protein expression data from MOPED1, PaxDb2 and MAXQB3 :    About this image 

    KL Protein Expression
    REFSEQ proteins: NP_004786.2  
    ENSEMBL proteins: 
     ENSP00000369442   ENSP00000399513  
    Reactome Protein details: Q9UEF7
    Human Recombinant Protein Products for KL: 
    Browse Purified and Recombinant Proteins at EMD Millipore
    R&D Systems Recombinant & Natural Proteins for KL (Klotho)
    Enzo Life Sciences proteins for KL
    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate for KL
    OriGene Custom MassSpec 
    OriGene Custom Protein Services for KL
    GenScript Custom Purified and Recombinant Proteins Services for KL
    Novus Biologicals KL Proteins
    Novus Biologicals KL Lysate
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates 
    ProSpec Recombinant Protein for KL
    Cloud-Clone Corp. Proteins for KL 

    Gene Ontology (GO): 5 cellular component terms (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005576extracellular region TAS--
    GO:0005615extracellular space TAS11792841
    GO:0005886plasma membrane TAS--
    GO:0005887integral to plasma membrane TAS9464267
    GO:0016021integral to membrane TAS11792841

    KL for ontologies           About GeneDecksing



    KL Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of KL
    R&D Systems Antibodies for KL (Klotho)
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    LSBio Antibodies in human, mouse, rat for KL 

    Assay Products for KL: 
    Browse Kits and Assays available from EMD Millipore
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    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for KL
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for KL 
    Cloud-Clone Corp. CLIAs for KL


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    4 InterPro protein domains:
     IPR017853 Glycoside_hydrolase_SF
     IPR001360 Glyco_hydro_1
     IPR018120 Glyco_hydro_1_AS
     IPR013781 Glyco_hydro_catalytic_dom

    Graphical View of Domain Structure for InterPro Entry Q9UEF7

    ProtoNet protein and cluster: Q9UEF7

    UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
    Domain: Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site
    residue at position 239, and the second one lacks the essential Glu active site residue at position 872
    Similarity: Belongs to the glycosyl hydrolase 1 family. Klotho subfamily


    KL for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, Vector BioLabs, and Sirion Biotech, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene.)
    About This Section

    Molecular Function:

         UniProtKB/Swiss-Prot Summary: KLOT_HUMAN, Q9UEF7
    Function: May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active
    site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be
    involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D
    (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity)
    Function: The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating
    hormone which would extend life span by inhibiting insulin/IGF1 signaling (By similarity)
    Catalytic activity: A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol

         Genatlas biochemistry entry for KL:
    murine klotho gene homolog,with two spliced variants one secreted predominantly over the membrane form

         Enzyme Numbers (IUBMB): EC 3.2.1.311 2 EC 3.2.12

         Gene Ontology (GO): 5/9 molecular function terms (GO ID links to tree view) (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004553hydrolase activity, hydrolyzing O-glycosyl compounds ----
    GO:0004566beta-glucuronidase activity IEA--
    GO:0004871signal transducer activity TAS9363890
    GO:0005104fibroblast growth factor receptor binding IEA--
    GO:0005179hormone activity IEA--
         
    KL for ontologies           About GeneDecksing


    Phenotypes:
         15/21 MGI mutant phenotypes (inferred from 4 alleles(MGI details for Kl) (see all 21):
     adipose tissue  behavior/neurological  cardiovascular system  cellular  digestive/alimentary 
     endocrine/exocrine gland  growth/size  hematopoietic system  homeostasis/metabolism  immune system 
     integument  limbs/digits/tail  liver/biliary system  mortality/aging  muscle 

    KL for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for KL: Kltm1Yin Kltm1Lex

       inGenious Targeting Laboratory - Custom generated mouse model solutions for KL 
       inGenious Targeting Laboratory - Custom generated inducible mouse model solutions for KL

       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for KL 
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for KL 

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KL
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate KL (see all 26):
    hsa-miR-10b hsa-miR-15a hsa-miR-944 hsa-miR-339-5p hsa-miR-633 hsa-miR-144 hsa-miR-424 hsa-miR-199b-5p
    SwitchGear 3'UTR luciferase reporter plasmidKL 3' UTR sequence
    Inhib. RNA
    Products:
        
    Browse for Gene Knock-down Tools from EMD Millipore
    OriGene RNAi products in human, mouse, rat for KL
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    Gene Editing
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    Sirion Biotech Customized adenovirus for overexpression of KL

    Clone
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    OriGene clones in human, mouse for KL (see all 8)
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    GenScript: all cDNA clones in your preferred vector (see all 4): KL (NM_001648)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for KL
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    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KL


    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Oct 2013 via Entrez Gene).
    About This Section

    SuperPaths for KL About   (see all 14)                                                                                              See pathways by source

    SuperPathSelected contained pathways About (see all per SuperPath)
    1Signaling by FGFR
    Downstream signaling of activated FGFR0.92
    Downstream signal transduction0.90
    Signaling by FGFR0.92
    Signaling by PDGF0.85
    Signaling by FGFR in disease0.91
    Signaling by EGFR0.84
    DAP12 signaling0.91
    Signaling by EGFR in Cancer0.83
    2PIP3 activates AKT signaling
    GAB1 signalosome0.93
    PI3K events in ERBB2 signaling0.88
    PI3K/AKT activation0.93
    PI3K events in ERBB4 signaling0.88
    PIP3 activates AKT signaling0.88
    Constitutive PI3K/AKT Signaling in Cancer0.88
    PI3K/AKT Signaling in Cancer0.88
    Signaling by SCF-KIT0.72
    3IRS-related events
    Insulin receptor signalling cascade0.94
    IGF1R signaling cascade0.92
    IRS-related events0.94
    Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)0.92
    IRS-related events triggered by IGF1R0.93
    PI3K Cascade0.86
    IRS-mediated signalling0.92
    Signaling by Insulin receptor0.79
    4FGFR2c ligand binding and activation
    FGFR ligand binding and activation0.79
    FRS2-mediated cascade0.72
    SHC-mediated cascade0.79
    Negative regulation of FGFR signaling0.57
    5Immune System
    Immune System0.56
    Innate Immune System0.50
    Adaptive Immune System0.56

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    5/46        Reactome Pathways for KL (see all 46)
        Klotho-mediated ligand binding
    FGFR ligand binding and activation
    Signaling by EGFR in Cancer
    Downstream signal transduction
    IRS-mediated signalling


    4         Kegg Pathways  (Kegg details for KL):
        Pentose and glucuronate interconversions
    Starch and sucrose metabolism
    Metabolic pathways
    Endocrine and other factor-regulated calcium reabsorption


    KL for pathways           About GeneDecksing

    Interactions:

        SABiosciences Gene Network CentralTM Interacting Genes and Proteins Network for KL

    STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

    5/31 Interacting proteins for KL (Q9UEF73 ENSP000003694424) via UniProtKB, MINT, STRING, and/or I2D (see all 31)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    IGF1RP080693, ENSP000002680354I2D: score=1 STRING: ENSP00000268035
    ATP1A1P050233I2D: score=1 
    WNT1P046283I2D: score=1 
    WNT3P567033I2D: score=1 
    WNT4P567053I2D: score=1 
    About this table

    Gene Ontology (GO): 5/14 biological process terms (GO ID links to tree view) (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002526acute inflammatory response IEA--
    GO:0005975carbohydrate metabolic process IEA--
    GO:0006112energy reserve metabolic process IEA--
    GO:0007173epidermal growth factor receptor signaling pathway TAS--
    GO:0007568aging IMP11792841

    KL for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    KL for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    Browse Tocris compounds for KL (KLOT)

    8 HMDB Compounds for KL    About this table
    CompoundSynonyms CAS #PubMed Ids
    1-Butanol1-Butanol (see all 10)71-36-3--
    1-Hexanol1-Hexyl alcohol (see all 30)111-27-3--
    1-Pentanol1-Pentol (see all 34)71-41-0--
    CalciumCa (see all 2)7440-70-2--
    Ethanol1-Hydroxyethane (see all 57)64-17-5--
    Isobutanol1-Hydroxymethylpropane (see all 18)78-83-1--
    Isopropyl alcohol2-Propanol (see all 12)67-63-0--
    Propyl alcohol1-Hydroxypropane (see all 17)71-23-8--

    2 Novoseek inferred chemical compound relationships for KL gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    vegf 21.4 3 11342433 (2), 10880756 (1)
    tyrosine 2.42 1 10809354 (1)

    Search CenterWatch for drugs/clinical trials and news about KL / KLOT

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Sirion Biotech, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section

    REFSEQ mRNAs for KL gene (2 alternative transcripts): 
    NM_004795.3  NM_153683.2  

    Unigene Cluster for KL:

    Klotho
    Hs.524953  [show with all ESTs]
    Unigene Representative Sequence: NM_004795
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000487852(uc001uur.1) ENST00000380099(uc001uus.3) ENST00000426690

    miRNA
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    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat KL
    8/26 QIAGEN miScript miRNA Assays for microRNAs that regulate KL (see all 26):
    hsa-miR-10b hsa-miR-15a hsa-miR-944 hsa-miR-339-5p hsa-miR-633 hsa-miR-144 hsa-miR-424 hsa-miR-199b-5p
    SwitchGear 3'UTR luciferase reporter plasmidKL 3' UTR sequence
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    Additional mRNA sequence: 

    AB005142.1 AK097349.1 

    4 DOTS entries:

    DT.100743810  DT.414871  DT.99930290  DT.70101635 

    24/71 AceView cDNA sequences (see all 71):

    BF431196 AA410391 BE501757 AI640294 AA677655 AI025650 W31539 AI991430 
    AW779558 AA885951 BF591980 BF197501 AI474763 AA913087 AA913524 AI628577 
    AI760193 BE467029 AB005142 BE221972 AW615211 NM_004795 AI261202 AW772081 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for KL    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6
    SP1:        -                             -                     
    SP2:                                                            
    SP3:                                                            


    ECgene alternative splicing isoforms for KL

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    KL expression in normal human tissues (normalized intensities)      KL embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACCTTTCCCT
    KL Expression
    About this image


    KL expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database 
     5/6 selected tissues (see all 6) fully expand
     
     Thyroid (Endocrine System)
             parathyroid gland   
     
     Placenta (Extraembryonic Tissues)
             placenta   
     
     Choroid Plexus (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Brain (Nervous System)
             Mature Choroid Plexus Cells Choroid Plexus
     
     Prostate (Endocrine System)
             prostate gland   

    See KL Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for KL

    SOURCE GeneReport for Unigene cluster: Hs.524953

    UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
    Tissue specificity: Present in cortical renal tubules (at protein level). Soluble peptide is present in serum and
    cerebrospinal fluid. Expressed in kidney, placenta, small intestine and prostate. Down-regulated in renal cell
    carcinomas, hepatocellular carcinomas, and in chronic renal failure kidney

        SABiosciences Custom PCR Arrays for KL
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    In Situ
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for KL

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
    About This Section

    This gene was present in the common ancestor of chordates.

    Orthologs for KL gene from 4/12 species (see all 12)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Kl1 , 5 klotho1, 5 84.33(n)1
    86.31(a)1
      5 (89.77 cM)5
    165911  NM_013823.21  NP_038851.21 
     1509526075 
    chicken
    (Gallus gallus)
    Aves KL1 klotho 72.93(n)
    72.12(a)
      418909  XM_417105.3  XP_417105.2 
    lizard
    (Anolis carolinensis)
    Reptilia KL6
    Uncharacterized protein
    65(a)
    1 ↔ 1
    GL344040.1(74013-82736)
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5623161 klotho-like 58.18(n)
    53.46(a)
      562316  XM_685705.3  XP_690797.3 


    ENSEMBL Gene Tree for KL (if available)
    TreeFam Gene Tree for KL (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
    About This Section
    Paralogs for KL gene
    KLB2  LCTL2  LCT2  GBA32  
    2 SIMAP similar genes for KL using alignment to 2 protein entries:     KLOT_HUMAN (see all proteins):
    KLB    LCT

    KL for paralogs           About GeneDecksing



    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
    Polymorphism: Homozygosity for KL-VS allele is associated with decreased longevity and increased cardiovascular
    disease risk


    10/1212 SNPs in KL are shown (see all 1212)    About this table     
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 13 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0364494
    A colorectal cancer sample4--see VAR_0364492 P L mis40--------
    VAR_0645544
    Tumoral calcinosis, hyperphosphatemic, familial (HFTC)4--see VAR_0645542 H R mis40--------
    rs2001126611,2
    Cuntested114577397(+) GTTCCA/GCCAAT 2 H R mis10--------
    rs362172631,2
    C--14400926(+) CAAAG-/ATAGAG 1 -- us2k10--------
    rs1403263881,2
    --14537824(+) GAATAC/TTTAGC 1 -- us2k10--------
    rs1441863631,2
    --14537992(+) GTTGTG/TTGCTG 1 -- us2k10--------
    rs1930381071,2
    --14538062(+) TAAATA/GCTATA 1 -- us2k10--------
    rs20404141,2
    C,F,O,A,H--14538087(+) AGTAAC/GTCTGT 1 -- us2k18Minor allele frequency- G:0.07NS EA NA CSA WA 542
    rs782828831,2
    F--14538205(+) TAATAA/GAAGCA 1 -- us2k11Minor allele frequency- G:0.01WA 118
    rs1851988651,2
    --14538251(+) AAATTC/TGTATT 1 -- us2k10--------

    HapMap Linkage Disequilibrium report for KL (33590207 - 33640282 bp)

    Structural Variations
          Database of Genomic Variants (DGV) variations for KL: --

    Human Gene Mutation Database (HGMD): KL

    Locus Specific Mutation Databases (LSDB): KL
    SABiosciences Cancer Mutation PCR Assays
    SeqTarget long-range PCR primers for resequencing KL
    DNA2.0 Custom Variant and Variant Library Synthesis for KL

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section
    OMIM gene information: 604824   
    OMIM disorders: 211900  
    UniProtKB/Swiss-Prot: KLOT_HUMAN, Q9UEF7
  • Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that
    manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients
    manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of
    periosteal reaction and cortical hyperostosis and absence of skin involvement. Note=The disease is caused by
    mutations affecting the gene represented in this entry

  • 20/47 diseases for KL (see all 47):    About MalaCards
    hyperphosphatemic familial tumoral calcinosis, kl-related    arteriosclerosis    skin atrophy    priapism
    spondylosis    hyperphosphatemic familial tumoral calcinosis    hypervitaminosis d    tumoral calcinosis, hyperphosphatemic
    calcinosis    familial tumoral calcinosis    periostitis    bone density
    x-linked hypophosphatemia    hypophosphatemia    osteonecrosis    hyperostosis
    hyperphosphatemia    rickets    primary hyperparathyroidism    hyperparathyroidism

    11 diseases from the University of Copenhagen DISEASES database for KL:
    Hyperphosphatemia     Hypophosphatemia     Skin atrophy     Hypervitaminosis D
    Kidney disease     X-linked hypophosphatemia     Pulmonary emphysema     Calcinosis
    Hyperparathyroidism     Osteomalacia     Osteoporosis

    KL for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for KL gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    tumors 0 1 10809354 (1)

    Genetic Association Database (GAD): KL
    Human Genome Epidemiology (HuGE) Navigator: KL (602 documents)

    Export disorders for KL gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

    PubMed articles for KL gene, integrated from 9 sources (see all 169):
    (articles sorted by number of sources associating them with KL)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Association between a functional variant of the KLOTHO gene and high- density lipoprotein cholesterol, blood pressure, stroke, and longevity. (PubMed id 15677572)1, 2, 4 Arking D.E.... Dietz H.C. (2005)
    2. Association of human aging with a functional variant of klotho. (PubMed id 11792841)1, 2, 4 Arking D.E.... Dietz H.C. (2002)
    3. Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein. (PubMed id 9464267)1, 2, 3 Matsumura Y....Nabeshima Y. (1998)
    4. A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. (PubMed id 17710231)1, 2, 9 Ichikawa S....Econs M.J. (2007)
    5. Klotho gene polymorphisms are associated with osteocalcin levels but not bone density of aged postmenopausal women. (PubMed id 16151675)1, 4, 9 Mullin B.H....Prince R.L. (2005)
    6. A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertensi on in the Chinese Han population. (PubMed id 20005218)1, 4 Wang H.L....Xiao H. (2010)
    7. Functional variant of KLOTHO: a breast cancer risk mo difier among BRCA1 mutation carriers of Ashkenazi origin. (PubMed id 19802015)1, 4 Wolf I....Kaufman B. (2010)
    8. Association of carotid atherosclerosis with genetic p olymorphisms of the klotho gene in patients with hypertension. (PubMed id 20345435)1, 4 Oguro R....Rakugi H. (2010)
    9. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (2010)
    10. Infantile hypercalcemia and hypercalciuria: new insig hts into a vitamin D-dependent mechanism and response to ketoconazole treatment . (PubMed id 20394945)1, 4 Nguyen M....Garabedian M. (2010)

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 9365 HGNC: 6344 AceView: KL Ensembl:ENSG00000133116 euGenes: HUgn9365
    ECgene: KL Kegg: 9365 H-InvDB: KL

    (According to HUGE)
    About This Section
      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for KL Pharmacogenomics, SNPs, Pathways
    Protein Spotlighthttp://web.expasy.org/spotlight/back_issues/sptlt065.shtml

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section
    Patent Information for KL gene:
    Search GeneIP for patents involving KL

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



    (Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Sirion Biotech, Cell lines from GenScript, and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
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    About This Section

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     Regulatory tfbs in KL promoter
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    GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013 , 23 Jan 2014

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