KL (klotho)

Gene
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
9365
Gene name Gene Name - the full gene name approved by the HGNC.
Klotho
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KL
Synonyms (NCBI Gene) Gene synonyms aliases
HFTC3, KLA
Chromosome Chromosome number
13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
13q13.1
Summary Summary of gene provided in NCBI Entrez Gene.
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 (
SNPs SNP information provided by dbSNP.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
SNP ID Visualize variation Clinical significance Consequence
rs121908423 A>G Likely-pathogenic, pathogenic Intron variant, missense variant, coding sequence variant
miRNA miRNA information provided by mirtarbase database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(36)
miRTarBase ID miRNA Experiments Reference
MIRT019099 hsa-miR-335-5p Microarray 18185580
MIRT053233 hsa-miR-199a-5p SGC-7901 24655788
MIRT053233 hsa-miR-199a-5p Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 24655788
MIRT053233 hsa-miR-199a-5p Immunohistochemistry, In situ hybridization, Luciferase reporter assay, qRT-PCR, Western blot 24655788
MIRT445349 hsa-miR-3163 PAR-CLIP 22100165
Transcription factors
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(1)
Transcription factor Regulation Reference
HMGA1 Activation 15378028
Gene ontology (GO) Gene ontology information of associated ontologies with gene provided by GO database.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide all(34)
GO ID Ontology Definition Evidence Reference
GO:0003085 Process Negative regulation of systemic arterial blood pressure IEA
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0004566 Function Beta-glucuronidase activity IEA
GO:0005104 Function Fibroblast growth factor receptor binding IBA
GO:0005104 Function Fibroblast growth factor receptor binding IEA
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
MIM HGNC e!Ensembl
604824 6344 ENSG00000133116
Protein
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
UniProt ID Q9UEF7
Protein name Klotho (EC 3.2.1.31) [Cleaved into: Klotho peptide]
Protein function May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calci
PDB 5W21 , 7YSH , 7YSU , 7YSW , 8TOH , 8UF8
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00232 Glyco_hydro_1 57 → 381 Glycosyl hydrolase family 1 Domain
PF00232 Glyco_hydro_1 378 → 506 Glycosyl hydrolase family 1 Domain
PF00232 Glyco_hydro_1 515 → 953 Glycosyl hydrolase family 1 Domain
Tissue specificity TISSUE SPECIFICITY: Present in cortical renal tubules (at protein level). Soluble peptide is present in serum and cerebrospinal fluid. Expressed in kidney, placenta, small intestine and prostate. Down-regulated in renal cell carcinomas, hepatocellular car
Sequence 
MPASAPPRRPRPPPPSLSLLLVLLGLGGRRLRAEPGDGAQTWARFSRPPAPEAAGLFQGT
FPDGFLWAVGSAAYQTEGGWQQHGKGASIWDTFTHHPLAPPGDSRNASLPLGAPSPLQPA
TGDVASDSYNNVFRDTEALRELGVTHYRFSISWARVLPNGSAGVPNREGLRYYRRLLERL
RELGVQPVVTLYHWDLPQRLQDAYGGWANRALADHFRDYAELCFRHFGGQVKYWITIDNP
YVVAWHGYATGRLAPGIRGSPRLGYLVAHNLLLAHAKVWHLYNTSFRPTQGGQVSIALSS
HWINPRRMTDHSIKECQKSLDFVLGWFAKPVFIDGDYPESMKNNLSSILPDFTESEKKFI
KGTADFFALCFGPTLSFQLLDPHMKFRQLESPNLRQLLSWIDLEFNHPQIFIVENGWFVS
GTTKRDDAKYMYYLKKFIMETLKAIKLDGVDVIGYTAWSLMDGFEWHRGYSIRRGLFYVD
FLSQDKMLLPKSSALFYQKLIEKNGFPPLPENQPLEGTFPCDFAWGVVDNYIQVDTTLSQ
FTDLNVYLWDVHHSKRLIKVDGVVTKKRKSYCVDFAAIQPQIALLQEMHVTHFRFSLDWA
LILPLGNQSQVNHTILQYYRCMASELVRVNITPVVALWQPMAPNQGLPRLLARQGAWENP
YTALAFAEYARLCFQELGHHVKLWITMNEPYTRNMTYSAGHNLLKAHALAWHVYNEKFRH
AQNGKISIALQADWIEPACPFSQKDKEVAERVLEFDIGWLAEPIFGSGDYPWVMRDWLNQ
RNNFLLPYFTEDEKKLIQGTFDFLALSHYTTILVDSEKEDPIKYNDYLEVQEMTDITWLN
SPSQVAVVPWGLRKVLNWLKFKYGDLPMYIISNGIDDGLHAEDDQLRVYYMQNYINEALK
AHILDGINLCGYFAYSFNDRTAPRFGLYRYAADQFEPKASMKHYRKIIDSNGFPGPETLE
RFCPEEFTVCTECSFFHTRKSLLAFIAFLFFASIISLSLIFYYSKKGRRSYK
Sequence length 1012
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
  KEGG   Reactome
  Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
Metabolic pathways
Longevity regulating pathway
Parathyroid hormone synthesis, secretion and action
Endocrine and other factor-regulated calcium reabsorption 		  PI3K Cascade
PIP3 activates AKT signaling
FGFR1c and Klotho ligand binding and activation
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade: FGFR1
Downstream signaling of activated FGFR1
SHC-mediated cascade:FGFR1
PI-3K cascade:FGFR1
FRS-mediated FGFR1 signaling
Negative regulation of FGFR1 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
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Associated diseases Disease associations categorized as Causal (pathogenic variants), Unknown (uncertain genetic evidence), or Text Mining (literature-based associations)
Gene SNPs miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Show/Hide Unknown Diseases (3)
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Disease merge term Disease name Evidence References Source
Diabetes Type 2 diabetes, Mild age-related type 2 diabetes, Type 2 diabetes (PheCode 250.2) N/A N/A GWAS
Hyperphosphatemic Tumoral Calcinosis familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome N/A N/A ClinVar
Tumoral calcinosis tumoral calcinosis, hyperphosphatemic, familial, 3, tumoral calcinosis, hyperphosphatemic, familial, 1 N/A N/A ClinVar, GenCC
Show/Hide Text Mining Associations (174)
Associations from Text Mining Disease associations identified through Pubtator
Disease Name Relationship Type References
AA amyloidosis Associate 30867273, 35617280, 36413367
Acromegaly Associate 22452701
ACTH Secreting Pituitary Adenoma Associate 23648743
Acute Kidney Injury Associate 26161015, 29046474
Acute Lung Injury Inhibit 37929344
Adenocarcinoma of Lung Associate 26069186, 39287231
Aging Premature Associate 20482749, 23516476, 30393845
Albuminuria Associate 36942605
Alzheimer Disease Associate 24211693, 27714549, 29352444, 30867273, 31745181, 32347987, 33427737, 34697589, 35617280, 36314202, 36413367, 37107675
Alzheimer Disease Inhibit 32282020, 34158479, 40112321