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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
  • Alliance
    gene page
  • Transcription Start Sites
    8 TSS
Location &
Maps
more
  • Sequence Map
    Chr5:150876072-150917282 bp, + strand
    From NCBI annotation of GRCm39
  • View this region in JBrowse
  • Genome Browsers
    Ensembl | UCSC | NCBI
  • Genetic Map
    Chromosome 5, 89.77 cM, cytoband G3
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    139 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1101771
 protein coding gene Chr5:150876072-150917282 (+)
129S1/SvImJ MGP_129S1SvImJ_G0030414
 protein coding gene Chr5:156926414-156968818 (+)
A/J MGP_AJ_G0030387
 protein coding gene Chr5:150203660-150245259 (+)
AKR/J MGP_AKRJ_G0030314
 protein coding gene Chr5:154846884-154891324 (+)
BALB/cJ MGP_BALBcJ_G0030396
 protein coding gene Chr5:151455817-151499819 (+)
C3H/HeJ MGP_C3HHeJ_G0030110
 protein coding gene Chr5:155838284-155884885 (+)
C57BL/6NJ MGP_C57BL6NJ_G0030851
 protein coding gene Chr5:162640134-162684967 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0028064
 protein coding gene Chr5:144517413-144558470 (+)
CAST/EiJ MGP_CASTEiJ_G0029512
 protein coding gene Chr5:155516567-155561405 (+)
CBA/J MGP_CBAJ_G0030088
 protein coding gene Chr5:169500510-169550145 (+)
DBA/2J MGP_DBA2J_G0030232
 protein coding gene Chr5:149838530-149880080 (+)
FVB/NJ MGP_FVBNJ_G0030186
 protein coding gene Chr5:149091190-149133166 (+)
LP/J MGP_LPJ_G0030319
 protein coding gene Chr5:157573892-157617538 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0030222
 protein coding gene Chr5:171533815-171578590 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0030881
 protein coding gene Chr5:154791649-154833570 (+)
PWK/PhJ MGP_PWKPhJ_G0029226
 protein coding gene Chr5:149026424-149069495 (+)
SPRET/EiJ MGP_SPRETEiJ_G0029062
 protein coding gene Chr5:152086761-152128952 (+)
WSB/EiJ MGP_WSBEiJ_G0029589
 protein coding gene Chr5:155601311-155643127 (+)



Homology
more
  • Human Ortholog
    KL, klotho
  • Vertebrate Orthologs
    3
Vertebrate Orthology Source
Alliance of Genome Resources
  • Human Ortholog
    KL, klotho
  • Synonyms
    HFTC3, KLA
  • Links
    NCBI Gene ID: 9365
    neXtProt AC: NX_Q9UEF7
    UniProt: Q9UEF7

  • Chr Location
    13q13.1; chr13:33016243-33066143 (+)  GRCh38
  • MGI Vertebrate Homology
    Kl stringent orthology
    1 human;1 mouse;1 rat;1 zebrafish
  • HCOP
    vertebrate homology predictions: KL
  • Gene Tree
    Kl
Human Diseases
more
  • Diseases
    2 with Kl mouse models; 3 with human KL associations

Human Disease Mouse Models
      
IDs
 View 2 models
IDs
 View 1 model
      
IDs
IDs
IDs
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
less
  • Phenotype Summary
    166 phenotypes from 10 alleles in 13 genetic backgrounds
    12 phenotypes from multigenic genotypes
    231 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.
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
less
  • All GO Annotations
    38
  • GO References
    16
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 differentiation
cell population proliferation
cellular component organization
DNA-templated transcription
establishment of localization
homeostatic process
immune system process
lipid metabolic process
programmed cell death
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
membraneless organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
protein-containing complex
synapse
vacuole
Click cells to view annotations.
Expression
less
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
    816
  • Tissues
    101
  • cDNA Data
    29
  • Literature Summary
    10
  • Comparison Matrix
    Gene Expression + Phenotype
    • Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 16591 NCBI Gene Model | MGI Sequence Detail 41211 C57BL/6J ±  kb
    transcript NM_013823 RefSeq | MGI Sequence Detail 5124 Not Specified  
    polypeptide O35082 UniProt | EBI | MGI Sequence Detail 1014 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 34
      Genomic 4
      cDNA 29
      Primer pair 1

      Microarray probesets 4
    References
    more
    • Summaries
      All 319
      Developmental Gene Expression 10
      Diseases 2
      Gene Ontology 16
      Phenotypes 231
    • 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:353719 Daryadel A, et al., Zona Glomerulosa-Derived Klotho Modulates Aldosterone Synthase Expression in Young Female Mice. Endocrinology. 2024 Mar 29;165(5)
    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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    Funding Information
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    Send questions and comments to User Support.     		last database update
    11/19/2024
    MGI 6.24     		The Jackson Laboratory