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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
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: HGNC, HomoloGene
  • Links
    NCBI Gene ID: 9365
    neXtProt AC: NX_Q9UEF7

  • Chr Location
    13q12; chr13:33016063-33066145 (+)  GRCh38.p2

  • HomoloGene
    Vertebrate Homology Class 68415
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • 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
       Klotho; KL   OMIM: 604824 View 2 models
       Emphysema, Hereditary Pulmonary   OMIM: 130700 View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    2 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    131 phenotypes from 7 alleles in 11 genetic backgrounds
    10 phenotypes from multigenic genotypes
    100 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
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    12
  • Chemically induced (ENU)
    3
  • Gene trapped
    1
  • Targeted
    7
  • Transgenic
    1
  • Incidental Mutations
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
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
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
Interactions
less
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
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  • SNPs within 2kb
    139 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 32
    Genomic 4
    cDNA 28

    Microarray probesets 4
References
more
  • Summaries
    All 144
    Developmental Gene Expression 6
    Diseases 2
    Gene Ontology 13
    Phenotypes 100
  • 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:229255 Esapa CT, et al., N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. PLoS One. 2015;10(4):e0122650

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
08/23/2016
MGI 6.05
The Jackson Laboratory