KL (klotho)

2009-01-01  

Identity

HGNC
LOCATION
13q13.1
LOCUSID
ALIAS
HFTC3
FUSION GENES

Other Information

Locus ID:

NCBI: 9365
MIM: 604824
HGNC: 6344
Ensembl: ENSG00000133116

Variants:

dbSNP: 9365
ClinVar: 9365
TCGA: ENSG00000133116
COSMIC: KL

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000133116ENST00000380099Q9UEF7

Expression (GTEx)

0
5
10
15
20

Pathways

PathwaySourceExternal ID
Pentose and glucuronate interconversionsKEGGko00040
Pentose and glucuronate interconversionsKEGGhsa00040
Metabolic pathwaysKEGGhsa01100
Endocrine and other factor-regulated calcium reabsorptionKEGGko04961
Endocrine and other factor-regulated calcium reabsorptionKEGGhsa04961
Glucuronate pathway (uronate pathway)KEGGM00014
Glucuronate pathway (uronate pathway)KEGGhsa_M00014
DiseaseREACTOMER-HSA-1643685
Diseases of signal transductionREACTOMER-HSA-5663202
PI3K/AKT Signaling in CancerREACTOMER-HSA-2219528
Constitutive Signaling by Aberrant PI3K in CancerREACTOMER-HSA-2219530
Immune SystemREACTOMER-HSA-168256
Adaptive Immune SystemREACTOMER-HSA-1280218
Signaling by the B Cell Receptor (BCR)REACTOMER-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)REACTOMER-HSA-1168372
PIP3 activates AKT signalingREACTOMER-HSA-1257604
Negative regulation of the PI3K/AKT networkREACTOMER-HSA-199418
Innate Immune SystemREACTOMER-HSA-168249
DAP12 interactionsREACTOMER-HSA-2172127
DAP12 signalingREACTOMER-HSA-2424491
RAF/MAP kinase cascadeREACTOMER-HSA-5673001
Fc epsilon receptor (FCERI) signalingREACTOMER-HSA-2454202
FCERI mediated MAPK activationREACTOMER-HSA-2871796
Role of LAT2/NTAL/LAB on calcium mobilizationREACTOMER-HSA-2730905
Cytokine Signaling in Immune systemREACTOMER-HSA-1280215
Signaling by InterleukinsREACTOMER-HSA-449147
Interleukin-2 signalingREACTOMER-HSA-451927
Interleukin receptor SHC signalingREACTOMER-HSA-912526
Interleukin-3, 5 and GM-CSF signalingREACTOMER-HSA-512988
Signal TransductionREACTOMER-HSA-162582
Signaling by EGFRREACTOMER-HSA-177929
GRB2 events in EGFR signalingREACTOMER-HSA-179812
SHC1 events in EGFR signalingREACTOMER-HSA-180336
GAB1 signalosomeREACTOMER-HSA-180292
Signaling by FGFRREACTOMER-HSA-190236
Signaling by FGFR1REACTOMER-HSA-5654736
FGFR1 ligand binding and activationREACTOMER-HSA-190242
FGFR1c and Klotho ligand binding and activationREACTOMER-HSA-190374
Downstream signaling of activated FGFR1REACTOMER-HSA-5654687
FRS-mediated FGFR1 signalingREACTOMER-HSA-5654693
Phospholipase C-mediated cascade: FGFR1REACTOMER-HSA-5654219
SHC-mediated cascade:FGFR1REACTOMER-HSA-5654688
PI-3K cascade:FGFR1REACTOMER-HSA-5654689
Negative regulation of FGFR1 signalingREACTOMER-HSA-5654726
Signaling by Insulin receptorREACTOMER-HSA-74752
Insulin receptor signalling cascadeREACTOMER-HSA-74751
IRS-mediated signallingREACTOMER-HSA-112399
PI3K CascadeREACTOMER-HSA-109704
SOS-mediated signallingREACTOMER-HSA-112412
Signalling by NGFREACTOMER-HSA-166520
NGF signalling via TRKA from the plasma membraneREACTOMER-HSA-187037
Signalling to ERKsREACTOMER-HSA-187687
Signalling to RASREACTOMER-HSA-167044
Signalling to p38 via RIT and RINREACTOMER-HSA-187706
Prolonged ERK activation eventsREACTOMER-HSA-169893
Frs2-mediated activationREACTOMER-HSA-170968
ARMS-mediated activationREACTOMER-HSA-170984
PI3K/AKT activationREACTOMER-HSA-198203
Signaling by PDGFREACTOMER-HSA-186797
Downstream signal transductionREACTOMER-HSA-186763
Signaling by VEGFREACTOMER-HSA-194138
VEGFA-VEGFR2 PathwayREACTOMER-HSA-4420097
VEGFR2 mediated cell proliferationREACTOMER-HSA-5218921
Signaling by SCF-KITREACTOMER-HSA-1433557
MAPK family signaling cascadesREACTOMER-HSA-5683057
MAPK1/MAPK3 signalingREACTOMER-HSA-5684996
Signaling by GPCRREACTOMER-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPKREACTOMER-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)REACTOMER-HSA-2404192
IGF1R signaling cascadeREACTOMER-HSA-2428924
IRS-related events triggered by IGF1RREACTOMER-HSA-2428928
Signaling by LeptinREACTOMER-HSA-2586552
Developmental BiologyREACTOMER-HSA-1266738
Axon guidanceREACTOMER-HSA-422475
NCAM signaling for neurite out-growthREACTOMER-HSA-375165
Longevity regulating pathwayKEGGhsa04211
PI5P, PP2A and IER3 Regulate PI3K/AKT SignalingREACTOMER-HSA-6811558
RET signalingREACTOMER-HSA-8853659

PharmGKB

Entity IDNameTypeEvidenceAssociationPKPDPMIDs
PA10832corticosteroidsChemicalVariantAnnotationassociatedPD30697902
PA164712535Beta Blocking AgentsChemicalClinicalAnnotationassociatedPD31350855
PA443450AsthmaDiseaseVariantAnnotationassociatedPD30697902

References

Pubmed IDYearTitleCitations
211156132011Klotho deficiency causes vascular calcification in chronic kidney disease.271
212091022011Klotho inhibits transforming growth factor-beta1 (TGF-beta1) signaling and suppresses renal fibrosis and cancer metastasis in mice.180
173393402007Molecular insights into the klotho-dependent, endocrine mode of action of fibroblast growth factor 19 subfamily members.169
224926352012Vascular Klotho deficiency potentiates the development of human artery calcification and mediates resistance to fibroblast growth factor 23.135
177102312007A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis.119
117928412002Association of human aging with a functional variant of klotho.116
235595842013Loss of Klotho contributes to kidney injury by derepression of Wnt/β-catenin signaling.111
187628122008Klotho: a tumor suppressor and a modulator of the IGF-1 and FGF pathways in human breast cancer.100
156775722005Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity.93
156775722005Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity.93

Citation

Dessen P

KL (klotho)

Atlas Genet Cytogenet Oncol Haematol. 2009-01-01

Online version: http://atlasgeneticsoncology.org/gene/50639/kl