KLB (klotho beta)

2010-10-01 Affiliation

Identity

HGNC

KLB

LOCATION

4p14

LOCUSID

152831

ALIAS

BKL

Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool

Other Information

Locus ID:

NCBI: 152831
MIM: 611135
HGNC: 15527
Ensembl: ENSG00000134962

Variants:

dbSNP: 152831
ClinVar: 152831
TCGA: ENSG00000134962
COSMIC: KLB

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000134962	ENST00000257408	Q86Z14

Expression (GTEx)

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Disease	REACTOME	R-HSA-1643685
Diseases of signal transduction	REACTOME	R-HSA-5663202
PI3K/AKT Signaling in Cancer	REACTOME	R-HSA-2219528
Constitutive Signaling by Aberrant PI3K in Cancer	REACTOME	R-HSA-2219530
Immune System	REACTOME	R-HSA-168256
Adaptive Immune System	REACTOME	R-HSA-1280218
Signaling by the B Cell Receptor (BCR)	REACTOME	R-HSA-983705
Downstream signaling events of B Cell Receptor (BCR)	REACTOME	R-HSA-1168372
PIP3 activates AKT signaling	REACTOME	R-HSA-1257604
Negative regulation of the PI3K/AKT network	REACTOME	R-HSA-199418
Innate Immune System	REACTOME	R-HSA-168249
DAP12 interactions	REACTOME	R-HSA-2172127
DAP12 signaling	REACTOME	R-HSA-2424491
RAF/MAP kinase cascade	REACTOME	R-HSA-5673001
Fc epsilon receptor (FCERI) signaling	REACTOME	R-HSA-2454202
FCERI mediated MAPK activation	REACTOME	R-HSA-2871796
Role of LAT2/NTAL/LAB on calcium mobilization	REACTOME	R-HSA-2730905
Cytokine Signaling in Immune system	REACTOME	R-HSA-1280215
Signaling by Interleukins	REACTOME	R-HSA-449147
Interleukin-2 signaling	REACTOME	R-HSA-451927
Interleukin receptor SHC signaling	REACTOME	R-HSA-912526
Interleukin-3, 5 and GM-CSF signaling	REACTOME	R-HSA-512988
Signal Transduction	REACTOME	R-HSA-162582
Signaling by EGFR	REACTOME	R-HSA-177929
GRB2 events in EGFR signaling	REACTOME	R-HSA-179812
SHC1 events in EGFR signaling	REACTOME	R-HSA-180336
GAB1 signalosome	REACTOME	R-HSA-180292
Signaling by FGFR	REACTOME	R-HSA-190236
Signaling by FGFR4	REACTOME	R-HSA-5654743
FGFR4 ligand binding and activation	REACTOME	R-HSA-190322
betaKlotho-mediated ligand binding	REACTOME	R-HSA-1307965
Downstream signaling of activated FGFR4	REACTOME	R-HSA-5654716
FRS-mediated FGFR4 signaling	REACTOME	R-HSA-5654712
Phospholipase C-mediated cascade; FGFR4	REACTOME	R-HSA-5654228
SHC-mediated cascade:FGFR4	REACTOME	R-HSA-5654719
PI-3K cascade:FGFR4	REACTOME	R-HSA-5654720
Negative regulation of FGFR4 signaling	REACTOME	R-HSA-5654733
Signaling by Insulin receptor	REACTOME	R-HSA-74752
Insulin receptor signalling cascade	REACTOME	R-HSA-74751
IRS-mediated signalling	REACTOME	R-HSA-112399
PI3K Cascade	REACTOME	R-HSA-109704
SOS-mediated signalling	REACTOME	R-HSA-112412
Signalling by NGF	REACTOME	R-HSA-166520
NGF signalling via TRKA from the plasma membrane	REACTOME	R-HSA-187037
Signalling to ERKs	REACTOME	R-HSA-187687
Signalling to RAS	REACTOME	R-HSA-167044
Signalling to p38 via RIT and RIN	REACTOME	R-HSA-187706
Prolonged ERK activation events	REACTOME	R-HSA-169893
Frs2-mediated activation	REACTOME	R-HSA-170968
ARMS-mediated activation	REACTOME	R-HSA-170984
PI3K/AKT activation	REACTOME	R-HSA-198203
Signaling by PDGF	REACTOME	R-HSA-186797
Downstream signal transduction	REACTOME	R-HSA-186763
Signaling by VEGF	REACTOME	R-HSA-194138
VEGFA-VEGFR2 Pathway	REACTOME	R-HSA-4420097
VEGFR2 mediated cell proliferation	REACTOME	R-HSA-5218921
Signaling by SCF-KIT	REACTOME	R-HSA-1433557
MAPK family signaling cascades	REACTOME	R-HSA-5683057
MAPK1/MAPK3 signaling	REACTOME	R-HSA-5684996
Signaling by GPCR	REACTOME	R-HSA-372790
Gastrin-CREB signalling pathway via PKC and MAPK	REACTOME	R-HSA-881907
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)	REACTOME	R-HSA-2404192
IGF1R signaling cascade	REACTOME	R-HSA-2428924
IRS-related events triggered by IGF1R	REACTOME	R-HSA-2428928
Signaling by Leptin	REACTOME	R-HSA-2586552
Developmental Biology	REACTOME	R-HSA-1266738
Axon guidance	REACTOME	R-HSA-422475
NCAM signaling for neurite out-growth	REACTOME	R-HSA-375165
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling	REACTOME	R-HSA-6811558
RET signaling	REACTOME	R-HSA-8853659

Protein levels (Protein atlas)

Not detected

Low

Medium

High

PharmGKB

Entity ID	Name	Type	Evidence	Association	PK	PD	PMIDs
PA443309	Alcoholism	Disease	ClinicalAnnotation	associated		PD
PA448073	ethanol	Chemical	ClinicalAnnotation, VariantAnnotation	associated		PD

References

Pubmed ID	Year	Title	Citations
17627937	2007	Liver-specific activities of FGF19 require Klotho beta.	87
27911795	2016	KLB is associated with alcohol drinking, and its gene product β-Klotho is necessary for FGF21 regulation of alcohol preference.	55
22442730	2012	Differential specificity of endocrine FGF19 and FGF21 to FGFR1 and FGFR4 in complex with KLB.	49
17711860	2007	Co-receptor requirements for fibroblast growth factor-19 signaling.	43
24813368	2015	Opposite alterations in FGF21 and FGF19 levels and disturbed expression of the receptor machinery for endocrine FGFs in obese patients.	43
19059246	2009	FGF21 N- and C-termini play different roles in receptor interaction and activation.	41
29342135	2018	Structures of β-klotho reveal a 'zip code'-like mechanism for endocrine FGF signalling.	35
21396369	2011	A Klothoβ variant mediates protein stability and associates with colon transit in irritable bowel syndrome with diarrhea.	29
18829467	2008	C-terminal tail of FGF19 determines its specificity toward Klotho co-receptors.	28
25070056	2014	Effect of increased bile acid synthesis or fecal excretion in irritable bowel syndrome-diarrhea.	23

Citation

Dessen P

KLB (klotho beta)

Atlas Genet Cytogenet Oncol Haematol. 2010-10-01

Online version: http://atlasgeneticsoncology.org/gene/51724/klb