Gene
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.
152831
Gene name Gene Name - the full gene name approved by the HGNC.
Klotho beta
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.
KLB
Synonyms (NCBI Gene) Gene synonyms aliases
BKL
Chromosome Chromosome number
4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.
4p14
miRNA miRNA information provided by mirtarbase database.
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 information of associated ontologies with gene provided by GO database.
GO ID Ontology Definition Evidence Reference
GO:0000165 Process MAPK cascade TAS
GO:0004553 Function Hydrolase activity, hydrolyzing O-glycosyl compounds IEA
GO:0005104 Function Fibroblast growth factor receptor binding IBA 21873635
GO:0005104 Function Fibroblast growth factor receptor binding IPI 17627937
GO:0005515 Function Protein binding IPI 19059246
Other IDs Other ids provides unique ids of gene in databases such as OMIM, HGNC, ENSEMBLE.
MIM HGNC e!Ensembl
611135 15527 ENSG00000134962
Protein
UniProt ID 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 information provided by ClinVar, GenCC, and GWAS databases.
Unknown
Disease term Disease name Evidence References Source
Gout Gout GWAS
Diabetes Diabetes GWAS
Heart Failure Heart Failure GWAS
Associations from Text Mining
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