Version: 8.0.0
Date: Tue Jan 28 2025
KL
Homo sapiensHGNC:6344
SummaryOrthologyParalogyFunction - GO AnnotationsPathwaysPhenotypesDisease AssociationsAlleles and VariantsTransgenic AllelesModelsSequence Feature ViewerSequence DetailsExpressionMolecular InteractionsGenetic Interactions
Gene

KL

Species
Homo sapiens
Symbol
KL
Name
klotho
Synonyms
  • alpha-klotho
  • HFTC3
Biotype
protein coding gene
Automated Description
Enables fibroblast growth factor binding activity. Involved in positive regulation of bone mineralization. Located in extracellular exosome. Implicated in coronary artery disease; intracranial embolism; and spondylosis. Biomarker of chronic kidney disease and end stage renal disease.
RGD Description
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]
Cross References
Additional Information
Literature

Orthology

Gene tree
PANTHER:PTHR10353
Stringency:
Additional filters to further constrain the results:
Species Gene symbol Count Best Best reverse
Method
Ensembl ComparaHGNCHieranoidInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidXenbaseZFIN
Mus musculusKl10 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Rattus norvegicusKl10 of 10YesYes☑☑☑☑☑☑☑☑☑☑  
Xenopus laeviskl.S1 of 1YesYes          ☑ 
Xenopus laeviskl.L1 of 1YesYes          ☑ 
Xenopus tropicaliskl9 of 9YesYes☑ ☑☑☑☑☑☑☑☑  
Danio reriokl10 of 10YesYes☑ ☑☑☑☑☑☑☑☑ ☑
Drosophila melanogasterCG97013 of 9YesNo☑ ☐☐☐☑☐☑☐☐  
Caenorhabditis elegansklo-25 of 9YesNo☑ ☐☐☐☑☑☑☑☐  
Caenorhabditis elegansklo-15 of 9YesNo☑ ☐☐☐☑☑☑☑☐  
Links to orthology data in JBrowse by filter level: Stringent,  Moderate,  No filter,  Best and Best Reverse

Paralogy

Gene symbolRank Alignment Length (aa) Similarity %Identity %Method Count
Method
Ensembl ComparaHGNCInParanoidOMAOrthoFinderOrthoInspectorPANTHERPhylomeDBSonicParanoidSGD
KLB1101864465 of 8☑ ☐☑☐☑☑☑☐ 
LCT2107651364 of 8☑ ☐☐☐☑☑☑☐ 
LCTL350956424 of 8☑ ☐☐☐☑☑☑☐ 
GBA3446356414 of 8☑ ☐☐☐☑☑☑☐ 

Function - GO Annotations

Pathways

No data available

Phenotypes

Primary Sources
None
Other Sources
Phenotype Term
Annotation details
References
Achilles tendon calcification
Arterial stenosis
Autosomal recessive inheritance
Calvarial osteosclerosis
Cerebral calcification
Elevated circulating parathyroid hormone level
Fatigue
Headache
High serum calcitriol
Hypercalcemia
Showing 1 - 10 of 17 rows
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Disease Associations

Cases where the expected disease association was NOT found
Must provide at least one subject
Cell color indicative of annotation volume
Species
Gene
Association
Disease Qualifier
Disease
Evidence
Source
Based On
References
No records match query. Try removing filters.
Showing 0 - 0 of 0 rows
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    Alleles and Variants

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction
    Allele/Variant Symbol
    Allele Synonyms
    Category
    Variant
    Variant type
    Molecular consequence
    Has Disease Annotations
    Has Phenotype Annotations
    NC_000013.11:g.33063922T>Cvariant
    SNP
    • synonymous variant
    NC_000013.11:g.33066136C>Avariant
    SNP
    • 3 prime UTR variant
    NC_000013.11:g.33060825C>Tvariant
    SNP
    • synonymous variant
    NC_000013.11:g.33061008G>Avariant
    SNP
    • synonymous variant
    NC_000013.11:g.33061045G>Avariant
    SNP
    • missense variant
    NC_000013.11:g.33061086T>Cvariant
    SNP
    • synonymous variant
    NC_000013.11:g.33061110C>Tvariant
    SNP
    • synonymous variant
    NC_000013.11:g.33061136C>Tvariant
    SNP
    • missense variant
    NC_000013.11:g.33061313A>Tvariant
    SNP
    • missense variant
    NC_000013.11:g.33061373T>Cvariant
    SNP
    • missense variant
    Showing 1 - 10 of 406 rows
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    View detailed Alleles/Variants information
    Download all Alleles/Variants for all genes of the species

    Transgenic Alleles

    No data available

    Models

    No data available

    Sequence Feature Viewer

    Genome location
    Assembly version
    GRCh38
    Viewer Help
    Data currently unavailable; sequence viewer under construction

    Sequence Details

    Loading...

    Expression

    Primary Sources
    None
    Other Sources
    Must provide at least one subject
    Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.

    Molecular Interactions

    5 interactor genes based on 8 annotations
    KL molecule type
    Interactor gene
    Interactor species
    Interactor molecule type
    Detection methods
    Source
    Reference
    protein
    		FGF23Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:27879395
    protein
    		MDM2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:35468874
    protein
    		MDM2Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:35468874
    protein
    		MYO3BHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:32707033
    protein
    		RIGIHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:21336305
    protein
    		RIGIHomo sapiens
    protein
    • affinity chromatography technology
    		PMID:21336305
    protein
    		SHANK1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:35468874
    protein
    		SHANK1Homo sapiens
    protein
    • affinity chromatography technology
    		PMID:35468874
    Showing 1 - 8 of 8 rows
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    Genetic Interactions

    No data available