KL (Klotho) Gene
Anti-aging gene involved in phosphate metabolism and longevity
Gene Information Card
| Symbol | KL |
|---|---|
| Full Name | Klotho |
| Gene Type | Protein-coding |
| Chromosomal Location | 13q13.1 |
| NCBI Gene ID | 9365 ncbi.nlm.nih.gov/gene/9365 |
| Ensembl ID | ENSG00000133116 |
| UniProt ID | Q9UEF7 |
| OMIM ID | 604824 |
| HGNC ID | 6344 |
| Aliases | KLOTHO |
Description
The KL gene encodes Klotho, a transmembrane protein that functions as a co-receptor for fibroblast growth factor 23 (FGF23) and regulates phosphate and vitamin D metabolism. It is associated with aging, longevity, and chronic kidney disease. Mutations in KL can lead to tumoral calcinosis and other metabolic disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Tumoral calcinosis, hyperphosphatemic | Loss-of-function mutations impair FGF23 signaling, leading to phosphate retention | OMIM #211900 |
| Chronic kidney disease | Reduced Klotho expression contributes to vascular calcification and disease progression | ClinVar, NCBI |
| Aging-related disorders | Klotho deficiency accelerates aging phenotypes; overexpression extends lifespan in animal models | OMIM #604824 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Kidney | 12.5 | High |
| Brain | 4.2 | Medium |
| Parathyroid gland | 3.8 | Medium |
| Liver | 0.5 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 8.1 | High expression |
| HepG2 | 1.2 | Low expression |
| SH-SY5Y | 3.5 | Medium expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.962C>T (p.Thr321Met) | Missense | <0.01% | Loss of function, associated with hyperphosphatemic tumoral calcinosis |
| c.1948G>A (p.Glu650Lys) | Missense | <0.01% | Impaired FGF23 signaling |
| c.1650C>G (p.Phe550Leu) | Missense | <0.01% | Reduced Klotho activity |
Mutation functional classification
Loss of Function (LOF)
Mutations that disrupt Klotho's co-receptor function for FGF23, leading to hyperphosphatemia and tumoral calcinosis.
Gain of Function (GOF)
Not well documented in humans; overexpression in animal models extends lifespan.
Dominant Negative (DN)
Not reported for KL.
View complete mutation data：
Gene Ontology (GO)
| • protein binding (GO:0005515) | • signaling receptor binding (GO:0005102) |
| • FGF23 binding (GO:0017124) | • regulation of phosphate transport (GO:0030506) |
| • aging (GO:0007568) |
Pathways
• FGF23 signaling pathway
• Vitamin D metabolism
• Phosphate homeostasis
Protein Summary
Klotho is a 1012-amino acid type I transmembrane protein with a large extracellular domain containing two glycosidase-like repeats. It acts as a co-receptor for FGF23, essential for phosphate and vitamin D regulation. Soluble Klotho is shed and functions as a circulating hormone with anti-aging properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| KLHDC2 Knockout HEK293T Cell Line | EDJ-KQ236 | Human | 23588 | Details Get a Quote |
| PRICKLE1 Knockout HEK293 Cell Line | EDJ-KQ323 | Human | 144165 | Details Get a Quote |
| PRICKLE3 Knockout HEK293 Cell Line | EDJ-KQ324 | Human | 4007 | Details Get a Quote |
| PFKL Knockout HEK293 Cell Line | EDJ-KQ917 | Human | 5211 | Details Get a Quote |
| KLF8 Knockout HEK293 Cell Line | EDJ-KQ1101 | Human | 11279 | Details Get a Quote |
| CDKL5 Knockout HEK293 Cell Line | EDJ-KQ1252 | Human | 6792 | Details Get a Quote |
| MLKL Knockout HEK293 Cell Line | EDJ-KQ1471 | Human | 197259 | Details Get a Quote |
| KL Knockout HEK293 Cell Line | EDJ-KQ1899 | Human | 9365 | Details Get a Quote |
| KLK3 Knockout HEK293 Cell Line | EDJ-KQ1939 | Human | 354 | Details Get a Quote |
| KLK2 Knockout HEK293 Cell Line | EDJ-KQ2036 | Human | 3817 | Details Get a Quote |
| CDKL1 Knockout HEK293 Cell Line | EDJ-KQ2037 | Human | 8814 | Details Get a Quote |
| KLRC1 Knockout HEK293 Cell Line | EDJ-KQ2116 | Human | 3821 | Details Get a Quote |
| KLHDC3 Knockout HEK293 Cell Line | EDJ-KQ2315 | Human | 116138 | Details Get a Quote |
| KLF10 Knockout HEK293 Cell Line | EDJ-KQ2323 | Human | 7071 | Details Get a Quote |
| KLF4 Knockout HEK293 Cell Line | EDJ-KQ2519 | Human | 9314 | Details Get a Quote |
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