KLB klotho beta [Homo sapiens (human)] - Gene

Summary

Official Symbol: KLBprovided by HGNC
Official Full Name: klotho betaprovided by HGNC
Primary source: HGNC:HGNC:15527
See related: Ensembl:ENSG00000134962 MIM:611135; AllianceGenome:HGNC:15527
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BKL
Summary: Enables fibroblast growth factor binding activity and fibroblast growth factor receptor binding activity. Predicted to be involved in fibroblast growth factor receptor signaling pathway. Predicted to act upstream of or within positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway and positive regulation of cell population proliferation. Predicted to be located in plasma membrane. Predicted to be active in endoplasmic reticulum. [provided by Alliance of Genome Resources, Apr 2022]
Expression: Biased expression in fat (RPKM 16.3), liver (RPKM 5.1) and 2 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 4p14

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	4	NC_000004.12 (39406930..39451533)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	4	NC_060928.1 (39376567..39421181)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	4	NC_000004.11 (39408550..39453153)

Chromosome 4 - NC_000004.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Lysine tRNA fragments and miR-194-5p co-regulate hepatic steatosis via beta-Klotho and perilipin 2.
Title: Lysine tRNA fragments and miR-194-5p co-regulate hepatic steatosis via β-Klotho and perilipin 2.
FGF21 prevents neuronal cell ferroptosis after spinal cord injury by activating the FGFR1/beta-Klotho pathway.
Title: FGF21 prevents neuronal cell ferroptosis after spinal cord injury by activating the FGFR1/β-Klotho pathway.
Klotho-beta attenuates Rab8a-mediated exosome regulation and promotes prostate cancer progression.
Title: Klotho-beta attenuates Rab8a-mediated exosome regulation and promotes prostate cancer progression.
KLB and NOX4 expression levels as potential blood-based transcriptional biomarkers of physical activity in children.
Title: KLB and NOX4 expression levels as potential blood-based transcriptional biomarkers of physical activity in children.
Role of beta-Klotho and Malondialdehyde in Metabolic Disorders, HIV Infection, and Antiretroviral Therapy.
Title: Role of β-Klotho and Malondialdehyde in Metabolic Disorders, HIV Infection, and Antiretroviral Therapy.
Serum beta-Klotho concentrations are increased in women with polycystic ovary syndrome.
Title: Serum β-Klotho concentrations are increased in women with polycystic ovary syndrome.
The KLB rs17618244 gene variant is associated with fibrosing MAFLD by promoting hepatic stellate cell activation.
Title: The KLB rs17618244 gene variant is associated with fibrosing MAFLD by promoting hepatic stellate cell activation.
beta-Klotho gene variation is associated with liver damage in children with NAFLD.
Title: β-Klotho gene variation is associated with liver damage in children with NAFLD.
KL-VS heterozygosity is associated with lower amyloid-dependent tau accumulation and memory impairment in Alzheimer's disease.
Title: KL-VS heterozygosity is associated with lower amyloid-dependent tau accumulation and memory impairment in Alzheimer's disease.
Frequent overexpression of klotho in fusion-negative phosphaturic mesenchymal tumors with tumorigenic implications.
Title: Frequent overexpression of klotho in fusion-negative phosphaturic mesenchymal tumors with tumorigenic implications.

Submit: New GeneRIF Correction See all GeneRIFs (47)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH104245 (e-PCR)
- UniSTS:98570

D8S2279 (e-PCR)
- UniSTS:473907

D15S1477 (e-PCR)
- UniSTS:474482

RH36905 (e-PCR)
- UniSTS:87932

SHGC-67244 (e-PCR)
- UniSTS:19069

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables fibroblast growth factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables fibroblast growth factor receptor binding	IPI Inferred from Physical Interaction more info	PubMed
enables hydrolase activity, hydrolyzing O-glycosyl compounds	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in carbohydrate metabolic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of cell population proliferation	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
located_in plasma membrane	TAS Traceable Author Statement more info

General protein information

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Preferred Names: beta-klotho

Names: b-Klotho; betaKlotho; klotho beta like; klotho beta-like protein

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.