Gene Gene information from NCBI Gene database.
Entrez ID 152831
Gene name Klotho beta
Gene symbol KLB
Synonyms (NCBI Gene)
BKL
Chromosome 4
Chromosome location 4p14
miRNA miRNA information provided by mirtarbase database.
385
miRTarBase ID miRNA Experiments Reference
MIRT006874 hsa-miR-34a-5p Luciferase reporter assay 22988100
MIRT048903 hsa-miR-93-5p CLASH 23622248
MIRT612056 hsa-miR-129-1-3p HITS-CLIP 19536157
MIRT612055 hsa-miR-129-2-3p HITS-CLIP 19536157
MIRT612054 hsa-miR-6814-5p HITS-CLIP 19536157
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
12
GO ID Ontology Definition Evidence Reference
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0005104 Function Fibroblast growth factor receptor binding IPI 17627937
GO:0005515 Function Protein binding IPI 19059246
GO:0005886 Component Plasma membrane IEA
GO:0005886 Component Plasma membrane TAS
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
611135 15527 ENSG00000134962
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q86Z14
Protein name Beta-klotho (BKL) (BetaKlotho) (Klotho beta-like protein)
Protein 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
PDB 5VAK , 5VAN , 5VAQ , 5WI9 , 6NFJ
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00232 Glyco_hydro_1 77 388 Glycosyl hydrolase family 1 Domain
PF00232 Glyco_hydro_1 376 508 Glycosyl hydrolase family 1 Domain
PF00232 Glyco_hydro_1 517 967 Glycosyl hydrolase family 1 Domain
Sequence
MKPGCAAGSPGNEWIFFSTDEITTRYRNTMSNGGLQRSVILSALILLRAVTGFSGDGRAI
WSKNPNFTPVNESQLFLYDTFPKNFFWGIGTGALQVEGSWKKDGKGPSIWDHFIHTHLKN
VSSTNGSSDSYIFLEKDLSALDFIGVSFYQFSISWPRLFPDGIVTVANAKGLQYYSTLLD
ALVLRNIEPIVTLYHWDLPLALQEKYGGWKNDTIIDIFNDYATYCFQMFGDRVKYWITIH
NPYLVAWHGYGTGMHAPGEKGNLAAVYTVGHNLIKAHSKVWHNYNTHFRPHQKGWLSITL
GSHWIEPNRSENTMDIFKCQQSMVSVLGWFANPIHGDGDYPEGMRKKLFSVLPIFSEAEK
HEMRGTADFFAFSFG
PNNFKPLNTMAKMGQNVSLNLREALNWIKLEYNNPRILIAENGWF
TDSRVKTEDTTAIYMMKNFLSQVLQAIRLDEIRVFGYTAWSLLDGFEWQDAYTIRRGLFY
VDFNSKQKERKPKSSAHYYKQIIRENGF
SLKESTPDVQGQFPCDFSWGVTESVLKPESVA
SSPQFSDPHLYVWNATGNRLLHRVEGVRLKTRPAQCTDFVNIKKQLEMLARMKVTHYRFA
LDWASVLPTGNLSAVNRQALRYYRCVVSEGLKLGISAMVTLYYPTHAHLGLPEPLLHADG
WLNPSTAEAFQAYAGLCFQELGDLVKLWITINEPNRLSDIYNRSGNDTYGAAHNLLVAHA
LAWRLYDRQFRPSQRGAVSLSLHADWAEPANPYADSHWRAAERFLQFEIAWFAEPLFKTG
DYPAAMREYIASKHRRGLSSSALPRLTEAERRLLKGTVDFCALNHFTTRFVMHEQLAGSR
YDSDRDIQFLQDITRLSSPTRLAVIPWGVRKLLRWVRRNYGDMDIYITASGIDDQALEDD
RLRKYYLGKYLQEVLKAYLIDKVRIKGYYAFKLAEEKSKPRFGFFTSDFKAKSSIQFYNK
VISSRGF
PFENSSSRCSQTQENTECTVCLFLVQKKPLIFLGCCFFSTLVLLLSIAIFQRQ
KRRKFWKAKNLQHIPLKKGKRVVS
Sequence length 1044
Interactions View interactions
Pathways Pathway information has different metabolic/signaling pathways associated with genes.
  KEGG  Reactome
  Thermogenesis   PI3K Cascade
PIP3 activates AKT signaling
betaKlotho-mediated ligand binding
Constitutive Signaling by Aberrant PI3K in Cancer
Phospholipase C-mediated cascade; FGFR4
FRS-mediated FGFR4 signaling
SHC-mediated cascade:FGFR4
PI-3K cascade:FGFR4
Negative regulation of FGFR4 signaling
RAF/MAP kinase cascade
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
Associated diseases Disease associations from ClinVar categorized as Causal (Pathogenic/Likely Pathogenic) or Unknown.
23
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Male infertility with azoospermia or oligozoospermia due to single gene mutation Likely pathogenic rs2474965849 RCV003991614
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Phenotype Name Clinical Significance dbSNP ID RCV Accession
Amenorrhea Uncertain significance rs560220050, rs1487572959 RCV001849743
RCV001849744
Hepatocellular carcinoma Likely benign rs369568090 RCV005930866
Hypogonadotropic hypogonadism Conflicting classifications of pathogenicity rs549659598 RCV006440082
KLB-related disorder Benign; Likely benign; Conflicting classifications of pathogenicity rs4975017, rs35372803, rs10003369, rs147899701, rs138076201, rs200309567, rs147372707, rs549659598, rs35733674, rs147916209, rs146152443, rs143809363, rs116274139, rs765099477 RCV003984077
RCV003978696
RCV003916286
RCV003933588
RCV003944220
RCV003927233
RCV003914419
RCV003918226
RCV003895421
RCV003910374
RCV003955795
RCV003920793
RCV003958099
RCV003978059
Associations from Text MiningDisease associations identified through Pubtator
Disease Name Relationship Type References
Actin Accumulation Myopathy Associate 33640795
Alopecia Areata Associate 39177325
Breast Neoplasms Associate 23317273
Carcinogenesis Associate 29749458
Carcinoma Hepatocellular Associate 22439738, 36179047
Carcinoma Non Small Cell Lung Inhibit 31695781
Chemical and Drug Induced Liver Injury Associate 31655133, 33640795
Cholangiocarcinoma Associate 28445152
Diabetes Gestational Associate 29734515
Diabetes Gestational Inhibit 34912302