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Aliases for KLB Gene

Aliases for KLB Gene

  • Klotho Beta 2 3
  • Klotho Beta-Like Protein 3 4
  • BetaKlotho 3 4
  • BKL 3 4
  • Klotho Beta Like 3
  • EC 3.2.1 63

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. Diseases associated with KLB include irritable bowel syndrome. Among its related pathways are PI3K/AKT Signaling in Cancer and Immune System. 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 GBA3.

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 , 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

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for KLB Gene at MOPED

Selected DME Specific Peptides for KLB Gene

Post-translational modifications for KLB Gene

  • Glycosylation at Asn 71, Asn 120, Asn 125, Asn 211, Asn 308, Asn 391, Asn 554, Asn 611, Asn 702, Asn 706, and Asn 971
  • Modification sites at PhosphoSitePlus

Other Protein References for KLB Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

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:0005104 fibroblast growth factor receptor binding IPI 17627937
GO:0005515 protein binding IPI 19059246
GO:0017134 fibroblast growth factor binding IPI 18829467
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

  • Taconic Biosciences Mouse Models for KLB TF0361 Kl

No data available for 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
Jensen Localization Image for KLB Gene COMPARTMENTS Subcellular localization image for KLB gene
Compartment Confidence
plasma membrane 4

Gene Ontology (GO) - Cellular Components for KLB Gene

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

Pathways & Interactions for KLB Gene

SuperPathways for KLB Gene

Superpath Contained pathways
1 Interleukin receptor SHC signaling
2 PI3K/AKT Signaling in Cancer
3 Immune System
4 Downstream signaling events of B Cell Receptor (BCR)
5 SHC-mediated cascade-FGFR1
genes like me logo Genes that share pathways with KLB: view

Pathways by source for KLB Gene

Gene Ontology (GO) - Biological Process for KLB Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000165 MAPK cascade TAS --
GO:0000186 activation of MAPKK activity TAS --
GO:0005975 carbohydrate metabolic process IEA --
GO:0007173 epidermal growth factor receptor signaling pathway TAS --
GO:0007264 small GTPase mediated signal transduction 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

Unigene Clusters for KLB Gene

Klotho beta:
Representative Sequences:

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 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, MOPED, and MaxQB for KLB Gene



SOURCE GeneReport for Unigene cluster for KLB Gene Hs.90756

genes like me logo Genes that share expression patterns with KLB: view

Primer Products

  • QuantiTect SYBR Green Assays in human,mouse,rat
  • Pre-validated RT² qPCR Primer Assay in human,mouse,rat
  • QuantiFast Probe-based Assays in human,mouse,rat

In Situ Assay Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , Protein differential expression in normal tissues , mRNA Expression by UniProt/SwissProt and Protein tissue co-expression partners 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
cow
(Bos Taurus)
Mammalia KLB 35
  • 87.72 (n)
  • 86.8 (a)
KLB 36
  • 87 (a)
OneToOne
dog
(Canis familiaris)
Mammalia KLB 35
  • 88.69 (n)
  • 86.11 (a)
KLB 36
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Klb 35
  • 81.16 (n)
  • 79.08 (a)
Klb 16
Klb 36
  • 79 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia KLB 35
  • 99.27 (n)
  • 99.23 (a)
KLB 36
  • 99 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Klb 35
  • 83.24 (n)
  • 81.8 (a)
oppossum
(Monodelphis domestica)
Mammalia KLB 36
  • 77 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia KLB 36
  • 69 (a)
OneToOne
chicken
(Gallus gallus)
Aves KLB 35
  • 71.86 (n)
  • 71.9 (a)
KLB 36
  • 71 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia KLB 36
  • 62 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia klb 35
  • 60.23 (n)
  • 55.95 (a)
African clawed frog
(Xenopus laevis)
Amphibia Xl.13366 35
zebrafish
(Danio rerio)
Actinopterygii KLB 36
  • 45 (a)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG9701 36
  • 34 (a)
OneToMany
worm
(Caenorhabditis elegans)
Secernentea klo-1 36
  • 31 (a)
ManyToMany
klo-2 36
  • 31 (a)
ManyToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 35 (a)
OneToMany
Species with no ortholog for KLB:
  • 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 MAF
VAR_034053 -
VAR_034054 -
VAR_034055 -
VAR_049296 -
VAR_061207 -

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

Variant ID Type Subtype PubMed ID
nsv878940 CNV Gain 21882294
nsv878941 CNV Gain 21882294
esv270754 CNV Insertion 20981092
esv274155 CNV Insertion 20981092
esv2665681 CNV Deletion 23128226
esv2673187 CNV Deletion 23128226
nsv878942 CNV Loss 21882294

Variation tolerance for KLB Gene

Residual Variation Intolerance Score: 79.27% 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

HapMap Linkage Disequilibrium report
KLB
Human Gene Mutation Database (HGMD)
KLB

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

Disorders for KLB Gene

MalaCards: The human disease database

(1) MalaCards diseases for KLB Gene - From: DISEASES and GeneCards

Disorder Aliases PubMed IDs
irritable bowel syndrome
  • irritable colon
- elite association
Search KLB in MalaCards View complete list of genes associated with diseases

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

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

Publications for KLB Gene

  1. Tissue-specific expression of betaKlotho and fibroblast growth factor (FGF) receptor isoforms determines metabolic activity of FGF19 and FGF21. (PMID: 17623664) Kurosu H. … Kuro-o M. (J. Biol. Chem. 2007) 23 67
  2. Endoplasmic reticulum stress induces up-regulation of hepatic I^-Klotho expression through ATF4 signaling pathway. (PMID: 25727012) Dong K. … Jia W. (Biochem. Biophys. Res. Commun. 2015) 67
  3. Opposite alterations in FGF21 and FGF19 levels and disturbed expression of the receptor machinery for endocrine FGFs in obese patients. (PMID: 24813368) Gallego-Escuredo J.M. … Villarroya F. (Int J Obes (Lond) 2015) 67
  4. Effect of increased bile acid synthesis or fecal excretion in irritable bowel syndrome-diarrhea. (PMID: 25070056) Camilleri M. … Zinsmeister A.R. (Am. J. Gastroenterol. 2014) 67
  5. Irritable bowel syndrome-diarrhea: characterization of genotype by exome sequencing, and phenotypes of bile acid synthesis and colonic transit. (PMID: 24200957) Camilleri M. … Zinsmeister A.R. (Am. J. Physiol. Gastrointest. Liver Physiol. 2014) 67

Products for KLB Gene

Sources for KLB Gene

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