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Kl Gene Detail
Summary
  • Symbol
    Kl
  • Name
    klotho
  • Synonyms
    alpha-kl
  • Feature Type
    protein coding gene
  • IDs
    MGI:1101771
    NCBI Gene: 16591
  • Gene Overview
    MyGene.info: KL
  • Alliance
Location & Maps
more
  • Sequence Map
    Chr5:150952607-150993817 bp, + strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      41211 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 5, 89.77 cM, cytoband G3
  • Mapping Data
    2 experiments
Homology
more
  • Human Ortholog
    KL, klotho
  • Vertebrate Orthologs
    10
  • Human Ortholog
    KL, klotho
    Orthology source: HomoloGene, HGNC
  • Synonyms
    HFTC3
  • Links
    NCBI Gene ID: 9365
    neXtProt AC: NX_Q9UEF7
    UniProt: Q9UEF7

  • Chr Location
    13q13.1; chr13:33016063-33066145 (+)  GRCh38.p7

  • HomoloGene
    Vertebrate Homology Class 68415
    1 human;1 mouse;1 rat;1 chimpanzee;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed;1 macaque, rhesus
  • HCOP
    human homology predictions: KL
  • Gene Tree
    Kl
Human Diseases
more
  • Diseases
    2 with Kl mouse models; 1 with human KL associations

Human Disease Mouse Models
      
IDs
View 2 models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    3 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    161 phenotypes from 9 alleles in 12 genetic backgrounds
    10 phenotypes from multigenic genotypes
    121 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutant mice have a short lifespan and growth retardation with one allele homeostatic imbalances and soft tissue calcification are also seen. With a second allele abnormal cancellous bone and femur morphology are seen.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
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Expression Overview

early conceptus
embryo ectoderm
embryo endoderm
embryo mesoderm
embryo mesenchyme
extraembryonic component
alimentary system
auditory system
branchial arches
cardiovascular system
connective tissue
endocrine system
exocrine system
hemolymphoid system
integumental system
limbs
liver and biliary system
musculoskeletal system
nervous system
olfactory system
reproductive system
respiratory system
urinary system
visual system
Click cells to view annotations.


  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
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    Sequences &
    Gene Models
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    Representative SequencesLengthStrain/SpeciesFlank
    genomic OTTMUSG00000055554 VEGA Gene Model | MGI Sequence Detail 41211 C57BL/6J ±  kb
    transcript OTTMUST00000137495 VEGA | MGI Sequence Detail 5118 Not Applicable  
    polypeptide OTTMUSP00000072401 VEGA | MGI Sequence Detail 1014 Not Applicable  
    For the selected sequence
    Polymorphisms
    less
    • SNPs within 2kb
      139 from dbSNP Build 142
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 33
      Genomic 4
      cDNA 29

      Microarray probesets 4
    References
    more
    • Summaries
      All 182
      Developmental Gene Expression 7
      Diseases 2
      Gene Ontology 14
      Phenotypes 121
    • Earliest
      J:44109 Kuro-o M, et al., Mutation of the mouse klotho gene leads to a syndrome resembling ageing [see comments]. Nature. 1997 Nov 6;390(6655):45-51
    • Latest
      J:263102 Takeshita A, et al., Central role of the proximal tubular alphaKlotho/FGF receptor complex in FGF23-regulated phosphate and vitamin D metabolism. Sci Rep. 2018 May 2;8(1):6917

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
    Citing These Resources
    Funding Information
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    last database update
    07/31/2018
    MGI 6.12
    The Jackson Laboratory