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Aliases for KLB Gene

Aliases for KLB Gene

  • Klotho Beta 2 3 5
  • Klotho Beta-Like Protein 3 4
  • BetaKlotho 3 4
  • B-Klotho 2 3
  • BKL 3 4
  • Klotho Beta Like 3
  • Beta-Klotho 3
  • EC 3.2.1 61

External Ids for KLB Gene

Previous GeneCards Identifiers for KLB Gene

  • GC04P039232
  • GC04P039084
  • GC04P038733

Summaries for KLB Gene

GeneCards Summary for KLB Gene

KLB (Klotho Beta) is a Protein Coding gene. Among its related pathways are RET signaling and Downstream signaling of activated FGFR2. GO annotations related to this gene include hydrolase activity, hydrolyzing O-glycosyl compounds and fibroblast growth factor binding. An important paralog of this gene is KL.

UniProtKB/Swiss-Prot for KLB Gene

  • Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity).

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , Gene Wiki entry , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KLB Gene

Genomics for KLB Gene

Regulatory Elements for KLB Gene

Enhancers for KLB Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH04G039352 1.7 FANTOM5 Ensembl ENCODE dbSUPER 11 -53.0 -53015 3.2 PKNOX1 YY1 CBX5 ZNF143 JUNB TBX21 SMARCA4 NBN STAT3 HNF4A RNU6-887P KLB RNU6-32P WDR19 RFC1 ENSG00000249685
GH04G039468 1.5 Ensembl ENCODE dbSUPER 10.3 +62.7 62684 1.5 ATF1 ARNT ARID4B SIN3A DMAP1 ZNF2 YY1 SLC30A9 ZNF766 ZNF143 RPL9 PDS5A LOC105374419 SMIM14 KLB RNU6-887P LOC401127
GH04G038948 1.5 FANTOM5 Ensembl ENCODE dbSUPER 10.3 -457.8 -457796 2.0 JUN MAX SIN3A RAD21 YY1 FOSL1 SMC3 HNF4G FOS NFE2L2 KLHL5 RNU6-887P KLB KLF3 GC04P038912 TMEM156
GH04G039356 1.1 Ensembl ENCODE dbSUPER 11.9 -49.7 -49729 0.7 FOXA2 IKZF1 ZNF143 USF2 JUNB MLLT1 IKZF2 SPI1 RNU6-887P KLB RNU6-32P RFC1
GH04G039446 1.1 Ensembl ENCODE 11.9 +40.3 40315 1.7 PKNOX1 NFIB FUS AGO1 SIN3A RAD21 ELK1 ZNF143 RELB CREM RPL9 KLB RNU6-887P ENSG00000238797 LIAS
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around KLB on UCSC Golden Path with GeneCards custom track

Genomic Location for KLB Gene

Chromosome:
4
Start:
39,406,853 bp from pter
End:
39,451,536 bp from pter
Size:
44,684 bases
Orientation:
Plus strand

Genomic View for KLB Gene

Genes around KLB on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
KLB Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KLB Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for KLB Gene

Proteins for KLB Gene

  • Protein details for KLB Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q86Z14-KLOTB_HUMAN
    Recommended name:
    Beta-klotho
    Protein Accession:
    Q86Z14
    Secondary Accessions:
    • Q2M3K8

    Protein attributes for KLB Gene

    Size:
    1044 amino acids
    Molecular mass:
    119808 Da
    Quaternary structure:
    • Interacts with FGFR1 and FGFR4 (By similarity). Interacts with FGF19; this interaction is direct. Interacts (via C-terminus) with FGF21; this interaction is direct.

neXtProt entry for KLB Gene

Selected DME Specific Peptides for KLB Gene

Q86Z14:
  • VKYWITI
  • GLFYVDF

Post-translational modifications for KLB Gene

  • Glycosylation at posLast=7171, posLast=120120, isoforms=125, isoforms=211, isoforms=308, isoforms=391, isoforms=554, posLast=611611, isoforms=702, posLast=706706, and isoforms=971
  • Modification sites at PhosphoSitePlus

Other Protein References for KLB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

Assay Products

  • Cloud-Clone Corp Assay Kits for KLB

Domains & Families for KLB Gene

Protein Domains for KLB Gene

Suggested Antigen Peptide Sequences for KLB Gene

Graphical View of Domain Structure for InterPro Entry

Q86Z14

UniProtKB/Swiss-Prot:

KLOTB_HUMAN :
  • Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residue at position 241, and the second one lacks the essential Glu active site residue at position 889. These domains are therefore predicted to be inactive.
  • Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.
Domain:
  • Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residue at position 241, and the second one lacks the essential Glu active site residue at position 889. These domains are therefore predicted to be inactive.
Family:
  • Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.
genes like me logo Genes that share domains with KLB: view

No data available for Gene Families for KLB Gene

Function for KLB Gene

Molecular function for KLB Gene

UniProtKB/Swiss-Prot Function:
Contributes to the transcriptional repression of cholesterol 7-alpha-hydroxylase (CYP7A1), the rate-limiting enzyme in bile acid synthesis. Probably inactive as a glycosidase. Increases the ability of FGFR1 and FGFR4 to bind FGF21 (By similarity).

Enzyme Numbers (IUBMB) for KLB Gene

Gene Ontology (GO) - Molecular Function for KLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004553 hydrolase activity, hydrolyzing O-glycosyl compounds IEA --
GO:0005088 Ras guanyl-nucleotide exchange factor activity TAS --
GO:0005104 fibroblast growth factor receptor binding IPI 17627937
GO:0005515 protein binding IPI 19059246
GO:0008422 NOT beta-glucosidase activity IBA --
genes like me logo Genes that share ontologies with KLB: view
genes like me logo Genes that share phenotypes with KLB: view

Animal Models for KLB Gene

MGI Knock Outs for KLB:

Animal Model Products

Inhibitory RNA Products

Clone Products

No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KLB Gene

Localization for KLB Gene

Subcellular locations from UniProtKB/Swiss-Prot for KLB Gene

Cell membrane; Single-pass type III membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KLB gene
Compartment Confidence
plasma membrane 5
peroxisome 1
endoplasmic reticulum 1
golgi apparatus 1

Gene Ontology (GO) - Cellular Components for KLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005622 intracellular IEA --
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane IBA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with KLB: view

Pathways & Interactions for KLB Gene

SuperPathway Contained pathways
1 RET signaling
2 GAB1 signalosome
3 Downstream signaling of activated FGFR2
4 Developmental Biology
5 Cytokine Signaling in Immune system
genes like me logo Genes that share pathways with KLB: view

Gene Ontology (GO) - Biological Process for KLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0005975 carbohydrate metabolic process IEA --
GO:0008284 positive regulation of cell proliferation IEA --
GO:0008543 fibroblast growth factor receptor signaling pathway TAS --
GO:0014066 regulation of phosphatidylinositol 3-kinase signaling TAS --
genes like me logo Genes that share ontologies with KLB: view

No data available for SIGNOR curated interactions for KLB Gene

Drugs & Compounds for KLB Gene

No Compound Related Data Available

Transcripts for KLB Gene

mRNA/cDNA for KLB Gene

(1) REFSEQ mRNAs :
(6) Additional mRNA sequences :
(31) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for KLB Gene

Klotho beta:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for KLB Gene

No ASD Table

Relevant External Links for KLB Gene

GeneLoc Exon Structure for
KLB
ECgene alternative splicing isoforms for
KLB

Expression for KLB Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for KLB Gene

mRNA differential expression in normal tissues according to GTEx for KLB Gene

This gene is overexpressed in Liver (x17.2), Adipose - Subcutaneous (x7.6), and Adipose - Visceral (Omentum) (x7.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for KLB Gene



NURSA nuclear receptor signaling pathways regulating expression of KLB Gene:

KLB

SOURCE GeneReport for Unigene cluster for KLB Gene:

Hs.90756

Evidence on tissue expression from TISSUES for KLB Gene

  • Liver(4.6)
  • Gall bladder(2)
genes like me logo Genes that share expression patterns with KLB: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , Protein tissue co-expression partners , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for KLB Gene

Orthologs for KLB Gene

This gene was present in the common ancestor of animals.

Orthologs for KLB Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia KLB 34 35
  • 99.27 (n)
dog
(Canis familiaris)
Mammalia KLB 34 35
  • 88.69 (n)
cow
(Bos Taurus)
Mammalia KLB 34 35
  • 87.72 (n)
rat
(Rattus norvegicus)
Mammalia Klb 34
  • 83.24 (n)
mouse
(Mus musculus)
Mammalia Klb 34 16 35
  • 81.16 (n)
oppossum
(Monodelphis domestica)
Mammalia KLB 35
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLB 35
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLB 34 35
  • 71.86 (n)
lizard
(Anolis carolinensis)
Reptilia KLB 35
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klb 34
  • 60.23 (n)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13366 34
zebrafish
(Danio rerio)
Actinopterygii KLB 35
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9701 35
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klo-1 35
  • 31 (a)
ManyToMany
klo-2 35
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 35
  • 35 (a)
OneToMany
Species where no ortholog for KLB was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for KLB Gene

ENSEMBL:
Gene Tree for KLB (if available)
TreeFam:
Gene Tree for KLB (if available)

Paralogs for KLB Gene

Paralogs for KLB Gene

(4) SIMAP similar genes for KLB Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with KLB: view

Variants for KLB Gene

Sequence variations from dbSNP and Humsavar for KLB Gene

SNP ID Clin Chr 04 pos Sequence Context AA Info Type
rs1000000284 -- 39,416,627(+) AAATG(-/A)AAATA intron-variant
rs1000144456 -- 39,409,085(+) ATCTG(C/T)CCTTG intron-variant
rs1000175323 -- 39,409,455(+) CCCAG(C/T)TAATT intron-variant
rs1000199798 -- 39,413,729(+) AGGAA(A/G)AAAAA intron-variant
rs10003153 -- 39,436,869(+) catcc(A/C)cagct intron-variant

Structural Variations from Database of Genomic Variants (DGV) for KLB Gene

Variant ID Type Subtype PubMed ID
esv2665681 CNV deletion 23128226
esv2673187 CNV deletion 23128226
esv3365745 CNV duplication 20981092
esv3600279 CNV gain 21293372
esv3600281 CNV loss 21293372
esv3600282 CNV loss 21293372
esv3600283 CNV gain 21293372
nsv1010189 CNV gain 25217958
nsv1010784 CNV gain 25217958
nsv1109593 CNV deletion 24896259
nsv1114514 CNV deletion 24896259

Variation tolerance for KLB Gene

Residual Variation Intolerance Score: 79.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.67; 78.49% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for KLB Gene

Human Gene Mutation Database (HGMD)
KLB
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KLB

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for KLB Gene

Disorders for KLB Gene

Relevant External Links for KLB

Genetic Association Database (GAD)
KLB
Human Genome Epidemiology (HuGE) Navigator
KLB
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
KLB

No disorders were found for KLB Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for KLB Gene

Publications for KLB Gene

  1. FGF21 signalling pathway and metabolic traits - genetic association analysis. (PMID: 20717167) Kaess B.M. … Tomaszewski M. (Eur. J. Hum. Genet. 2010) 3 46 64
  2. Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study. (PMID: 20800603) Flachsbart F. … Nebel A. (Mutat. Res. 2010) 3 46 64
  3. Different roles of N- and C- termini in the functional activity of FGF21. (PMID: 19117008) Micanovic R. … Kharitonenkov A. (J. Cell. Physiol. 2009) 3 4 64
  4. C-terminal tail of FGF19 determines its specificity toward Klotho co- receptors. (PMID: 18829467) Wu X. … Li Y. (J. Biol. Chem. 2008) 3 4 64
  5. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PMID: 15489334) Gerhard D.S. … Malek J. (Genome Res. 2004) 3 4 64

Products for KLB Gene

Sources for KLB Gene

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