Aliases for KL Gene
External Ids for KL Gene
- HGNC: 6344
- Entrez Gene: 9365
- Ensembl: ENSG00000133116
- OMIM: 604824
- UniProtKB: Q9UEF7
Previous GeneCards Identifiers for KL Gene
- GC13P031576
- GC13P027577
- GC13P032526
- GC13P031388
- GC13P032488
- GC13P033590
- GC13P014401
Summaries for KL Gene
-
This gene encodes a type-I membrane protein that is related to beta-glucosidases. Reduced production of this protein has been observed in patients with chronic renal failure (CRF), and this may be one of the factors underlying the degenerative processes (e.g., arteriosclerosis, osteoporosis, and skin atrophy) seen in CRF. Also, mutations within this protein have been associated with ageing and bone loss. [provided by RefSeq, Jul 2008]
GeneCards Summary for KL Gene
KL (Klotho) is a Protein Coding gene. Diseases associated with KL include Tumoral Calcinosis, Hyperphosphatemic, Familial and Calcinosis. Among its related pathways are RET signaling and Negative regulation of FGFR3 signaling. Gene Ontology (GO) annotations related to this gene include signal transducer activity and hydrolase activity, hydrolyzing O-glycosyl compounds. An important paralog of this gene is KLB.
UniProtKB/Swiss-Prot for KL Gene
-
May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity).
-
The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling.
Additional gene information for KL Gene
- Monarch Initiative
- Search for KL at DataMed
- Search for KL at HumanCyc
No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for KL Gene
Genomics for KL Gene
GeneHancer (GH) Regulatory Elements for KL Gene
Promoters and enhancers for KL Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data dump
GeneHancers around KL on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KL gene promoter:
Regulatory Element Products
Genomic Locations for KL Gene
Genomic Locations for KL Gene
- chr13:33,016,063-33,066,145
- (GRCh38/hg38)
- Size:
- 50,083 bases
- Orientation:
- Plus strand
- chr13:33,590,207-33,640,282
- (GRCh37/hg19)
Genomic View for KL Gene
Genes around KL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 13q13.1 by Ensembl
- 13q13.1 by Entrez Gene
- 13q13.1 by HGNC
KL Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for KL Gene
Proteins for KL Gene
-
Protein details for KL Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q9UEF7-KLOT_HUMAN
- Recommended name:
- Klotho
- Protein Accession:
- Q9UEF7
- Q5VZ95
- Q96KV5
- Q96KW5
- Q9UEI9
- Q9Y4F0
Protein attributes for KL Gene
- Size:
- 1012 amino acids
- Molecular mass:
- 116181 Da
- Quaternary structure:
-
- Homodimer. Interacts with FGF23 and FGFR1.
- Miscellaneous:
-
- Defects in KL may be a cause of chronic renal failure complications.
Protein Expression for KL Gene
Selected DME Specific Peptides for KL Gene
- Q9UEF7:
-
- VKYWITI
- YRFSISW
- GWLAEPIFGSGDYP
- RDDAKYMYYLKKFIME
- YGGWANRA
- GLFYVDF
- QVAVVPWGLRK
Post-translational modifications for KL Gene
- N-glycosylated.
- Glycosylation at posLast=106106, posLast=159159, posLast=283283, posLast=344344, isoforms=607, isoforms=612, and posLast=694694
Other Protein References for KL Gene
- ENSEMBL proteins:
- REFSEQ proteins:
Antibody Products
- R&D Systems Antibodies for KL (Klotho)
- Novus Biologicals Antibodies for KL
-
Abcam antibodies for KL
-
Cloud-Clone Corp. Antibodies for KL
- Invitrogen Antibodies for KL
- antibodies-online: Search results for 90 available KL Antibodies ranked by validation data
- Compare Top KL Antibodies
-
Recommended
- 2 IHC (p) Antibodies (anti-rat)
- 16 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-mouse)
- 32 WB Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-human)
- 37 WB Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-rat)
- 16 WB Antibodies (anti-rat)
- 1 IHC (p) Antibody (anti-mouse)
- 32 WB Antibodies (anti-mouse)
- 2 IHC (p) Antibodies (anti-human)
- 37 WB Antibodies (anti-human)
- GeneTex KL antibody for KL
-
Custom Antibody ServicesProSci Antibodies for KL
Protein Products
- R&D Systems Proteins and Enzymes for KL (Klotho)
-
OriGene Purified Proteins for KL
- Search Origene for MassSpec and Protein Over-expression Lysates for KL
- Origene Custom Protein Services for KL
- ProSpec Recombinant Proteins for KL
-
Cloud-Clone Corp. Proteins for KL
- GeneTex Proteins for KL
-
ProSci Proteins for KL
-
Abcam proteins for KL
Assay Products
- R&D Systems ELISAs and other biochemical assays for KL (Klotho)
- antibodies-online: Search results for 49 available KL Elisa Kits ranked by validation data
- Compare Top KL Elisa Kits
-
Recommended
- 1 Sheep (Ovine) ELISA Kit
- 13 Rat (Rattus) ELISA Kits
- 1 Rabbit ELISA Kit
- 1 Pig (Porcine) ELISA Kit
- 13 Mouse (Murine) ELISA Kits
- 1 Monkey ELISA Kit
- 15 Human ELISA Kits
- 1 Guinea Pig ELISA Kit
- 1 Goat ELISA Kit
- 1 Dog (Canine) ELISA Kit
- 1 Cow (Bovine) ELISA Kit
- 1 Sheep (Ovine) ELISA Kit
- 13 Rat (Rattus) ELISA Kits
- 1 Rabbit ELISA Kit
- 1 Pig (Porcine) ELISA Kit
- 13 Mouse (Murine) ELISA Kits
- 1 Monkey ELISA Kit
- 15 Human ELISA Kits
- 1 Guinea Pig ELISA Kit
- 1 Goat ELISA Kit
- 1 Dog (Canine) ELISA Kit
- 1 Cow (Bovine) ELISA Kit
Domains & Families for KL Gene
Gene Families for KL Gene
- Human Protein Atlas (HPA):
-
- Disease related genes
- Enzymes
- Potential drug targets
- Predicted membrane proteins
- Transporters
Protein Domains for KL Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for KL Gene
- GenScript: Design optimal peptide antigens:
Graphical View of Domain Structure for InterPro Entry
Q9UEF7UniProtKB/Swiss-Prot:
KLOT_HUMAN :- Contains 2 glycosyl hydrolase 1 regions. However, the first region lacks the essential Glu active site residue at position 239, and the second one lacks the essential Glu active site residue at position 872.
- 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 239, and the second one lacks the essential Glu active site residue at position 872.
- Family:
-
- Belongs to the glycosyl hydrolase 1 family. Klotho subfamily.
Function for KL Gene
Molecular function for KL Gene
- GENATLAS Biochemistry:
- murine klotho gene homolog,with two spliced variants one secreted predominantly over the membrane form
- UniProtKB/Swiss-Prot CatalyticActivity:
- A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol.
- UniProtKB/Swiss-Prot Function:
- May have weak glycosidase activity towards glucuronylated steroids. However, it lacks essential active site Glu residues at positions 239 and 872, suggesting it may be inactive as a glycosidase in vivo. May be involved in the regulation of calcium and phosphorus homeostasis by inhibiting the synthesis of active vitamin D (By similarity). Essential factor for the specific interaction between FGF23 and FGFR1 (By similarity).
- UniProtKB/Swiss-Prot Function:
- The Klotho peptide generated by cleavage of the membrane-bound isoform may be an anti-aging circulating hormone which would extend life span by inhibiting insulin/IGF1 signaling.
Enzyme Numbers (IUBMB) for KL Gene
Phenotypes From GWAS Catalog for KL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0004553 | hydrolase activity, hydrolyzing O-glycosyl compounds | IEA | -- |
| GO:0004566 | beta-glucuronidase activity | IEA | -- |
| GO:0004871 | signal transducer activity | IEA,TAS | -- |
| GO:0005088 | Ras guanyl-nucleotide exchange factor activity | TAS | -- |
| GO:0005104 | fibroblast growth factor receptor binding | IEA,IBA | -- |
Phenotypes for KL Gene
- MGI mutant phenotypes for KL:
-
inferred from 9 alleles
- nervous system phenotype
- homeostasis/metabolism phenotype
- respiratory system phenotype
- muscle phenotype
- cardiovascular system phenotype
- mortality/aging
- immune system phenotype
- cellular phenotype
- behavior/neurological phenotype
- growth/size/body region phenotype
- digestive/alimentary phenotype
- endocrine/exocrine gland phenotype
- reproductive system phenotype
- vision/eye phenotype
- hearing/vestibular/ear phenotype
- integument phenotype
- hematopoietic system phenotype
- skeleton phenotype
- renal/urinary system phenotype
- liver/biliary system phenotype
- craniofacial phenotype
- adipose tissue phenotype
- limbs/digits/tail phenotype
- GenomeRNAi human phenotypes for KL:
Animal Model Products
- Taconic Biosciences: Generate A Custom CRISPR Mouse Model For Your Study
- Cyagen custom Knockout/knockin (KOKI) mouse models for KL
-
-
ViGene Biosciences lentiviral particle packaged cDNA for KL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KL gene
- Search ViGene Biosciences for KL
CRISPR Products
-
OriGene CRISPR knockouts for KL
- genomics-online: gRNA clones - Search results for available KL gene related products
- Applied Biological Materials CRISPR for KL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KL
- GenScript: Design CRISPR guide RNA sequences for KL
miRNA for KL Gene
- miRTarBase miRNAs that target KL
miRNA Products
- Search ViGene Biosciences for KL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for KL
- Browse OriGene Inhibitory RNA Products For KL
- genomics-online: shRNA clones - Search results for available KL gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KL gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for KL
- genomics-online: cdna clones - Search results for available KL gene related products
- orf clones - Search results for available KL gene related products
- Applied Biological Materials Clones for KL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
Cell Line Products
-
Horizon Cell Lines for KL
-
ViGene Biosciences adenoviral particle packaged cDNA for KL gene
-
ViGene Biosciences lentiviral particle packaged cDNA for KL gene
-
ViGene Biosciences ready-to-package AAV shRNAs for KL gene
No data available for Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for KL Gene
Localization for KL Gene
Subcellular locations from UniProtKB/Swiss-Prot for KL Gene
- Isoform 1: Cell membrane; Single-pass type I membrane protein. Apical cell membrane; Single-pass type I membrane protein. Note=Isoform 1 shedding leads to a soluble peptide. {ECO:0000250 UniProtKB:O35082}.
- Isoform 2: Secreted.
- Klotho peptide: Secreted.
| Compartment | Confidence |
|---|---|
| plasma membrane | 5 |
| extracellular | 5 |
| endoplasmic reticulum | 2 |
| golgi apparatus | 2 |
| cytoskeleton | 1 |
| mitochondrion | 1 |
| nucleus | 1 |
| cytosol | 1 |
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005576 | extracellular region | TAS | -- |
| GO:0005615 | extracellular space | IEA | -- |
| GO:0005622 | intracellular | IEA | -- |
| GO:0005886 | plasma membrane | TAS | -- |
| GO:0005887 | integral component of plasma membrane | TAS | 9464267 |
No data available for Subcellular locations from the Human Protein Atlas (HPA) for KL Gene
Pathways & Interactions for KL Gene
| SuperPathway | Contained pathways | ||
|---|---|---|---|
| 1 | RET signaling |
.92
|
.92
|
| 2 | PI3K/AKT activation |
.89
|
|
| 3 | Downstream signaling of activated FGFR2 | ||
| 4 | Negative regulation of FGFR3 signaling | ||
| 5 | Developmental Biology |
.51
|
|
Pathways by source for KL Gene
70 Reactome pathways for KL Gene
Interacting Proteins for KL Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0000165 | MAPK cascade | TAS | -- |
| GO:0005975 | carbohydrate metabolic process | IEA | -- |
| GO:0006112 | energy reserve metabolic process | IEA | -- |
| GO:0007568 | aging | IEA,IMP | 11792841 |
| GO:0008152 | metabolic process | IEA | -- |
No data available for SIGNOR curated interactions for KL Gene
Drugs & Compounds for KL Gene
| Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
|---|---|---|---|---|---|---|
| 1-Hexanol |
|
111-27-3 |
|
|||
| 1-Pentanol |
|
71-41-0 |
|
|||
| Isobutanol |
|
78-83-1 |
|
Transcripts for KL Gene
mRNA/cDNA for KL Gene
- (3) REFSEQ mRNAs :
- (2) Additional mRNA sequences :
- (71) Selected AceView cDNA sequences:
- (2) Ensembl transcripts including schematic representations, and UCSC links where relevant :
CRISPR Products
-
OriGene CRISPR knockouts for KL
- genomics-online: gRNA clones - Search results for available KL gene related products
- Applied Biological Materials CRISPR for KL
-
Vectors and viruses for KO, Activation, Repression, and more
-
Santa Cruz Biotechnology (SCBT) CRISPR for KL
- GenScript: Design CRISPR guide RNA sequences for KL
miRNA Products
- Search ViGene Biosciences for KL
Inhibitory RNA Products
- Origene RNAi, sirna, and shrna products in human, mouse, rat for KL
- Browse OriGene Inhibitory RNA Products For KL
- genomics-online: shRNA clones - Search results for available KL gene related products
-
ViGene Biosciences ready-to-package AAV shRNAs for KL gene
Clone Products
- VectorBuilder custom plasmid, inducible vectors for KL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KL
-
VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for KL
- genomics-online: cdna clones - Search results for available KL gene related products
- orf clones - Search results for available KL gene related products
- Applied Biological Materials Clones for KL
-
Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more
| ExUns: | 1 | ^ | 2 | ^ | 3a | · | 3b | ^ | 4a | · | 4b | · | 4c | ^ | 5a | · | 5b | ^ | 6 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | |||||||||||||||||
| SP2: | |||||||||||||||||||
| SP3: |
Expression for KL Gene
mRNA expression in embryonic tissues and stem cells from LifeMap Discovery
-
Epithelial Cells
- Mature Choroid Plexus Cells Choroid Plexus
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
mRNA differential expression in normal tissues according to GTEx for KL Gene
This gene is overexpressed in Kidney - Cortex (x10.0).
This gene is overexpressed in Pancreatic juice (62.9).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for KL Gene
NURSA nuclear receptor signaling pathways regulating expression of KL Gene:
KLSOURCE GeneReport for Unigene cluster for KL Gene:
Hs.524953mRNA Expression by UniProt/SwissProt for KL Gene:
Q9UEF7-KLOT_HUMAN
Tissue specificity:
Present in cortical renal tubules (at protein level). Soluble peptide is present in serum and cerebrospinal fluid. Expressed in kidney, placenta, small intestine and prostate. Down-regulated in renal cell carcinomas, hepatocellular carcinomas, and in chronic renal failure kidney.
Evidence on tissue expression from TISSUES for KL Gene
- Kidney(4.8)
- Nervous system(4.4)
- Thyroid gland(2.2)
- Blood(2)
- Bone(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for KL Gene
Germ Layers:
- ectoderm
- mesoderm
Systems:
- cardiovascular
- integumentary
- nervous
- skeleton
- urinary
Regions:
Head and neck:
- ear
- eye
- head
- jaw
- mandible
- maxilla
- mouth
- skull
- tooth
Thorax:
- heart
Abdomen:
- kidney
Pelvis:
- ureter
General:
- blood vessel
- skin
Primer Products
-
OriGene qPCR primer pairs for KL
- genomics-online: primer clones - Search results for available KL gene related products
Orthologs for KL Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| chimpanzee (Pan troglodytes) |
Mammalia | KL 33 34 |
|
||
| cow (Bos Taurus) |
Mammalia | KL 33 34 |
|
||
| dog (Canis familiaris) |
Mammalia | KL 33 34 |
|
||
| mouse (Mus musculus) |
Mammalia | Kl 33 16 34 |
|
||
| rat (Rattus norvegicus) |
Mammalia | Kl 33 |
|
||
| oppossum (Monodelphis domestica) |
Mammalia | KL 34 |
|
OneToOne | |
| platypus (Ornithorhynchus anatinus) |
Mammalia | KL 34 |
|
OneToOne | |
| chicken (Gallus gallus) |
Aves | KL 33 34 |
|
||
| lizard (Anolis carolinensis) |
Reptilia | KL 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kl 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kl 33 34 |
|
||
| fruit fly (Drosophila melanogaster) |
Insecta | CG9701 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | C50F7.10 35 |
|
|
|
| E02H9.5 35 |
|
|
|||
| klo-1 34 |
|
ManyToMany | |||
| klo-2 34 |
|
ManyToMany | |||
| sea squirt (Ciona savignyi) |
Ascidiacea | -- 34 |
|
OneToMany |
- Species where no ortholog for KL was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Ashbya gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- 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)
Paralogs for KL Gene
Variants for KL Gene
Polymorphic Variants from UniProtKB/Swiss-Prot for KL Gene
- KLOT_HUMAN-Q9UEF7
- Homozygosity for KL-VS allele is associated with decreased longevity and increased cardiovascular disease risk.
| SNP ID | Clin | Chr 13 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| rs1007443276 | uncertain-significance, Tumoral calcinosis, familial, hyperphosphatemic | 33,065,193(+) | T/C | 3_prime_UTR_variant | |
| rs1034342488 | uncertain-significance, Tumoral calcinosis, familial, hyperphosphatemic | 33,065,751(+) | T/C | 3_prime_UTR_variant | |
| rs114924800 | uncertain-significance, Tumoral calcinosis, familial, hyperphosphatemic | 33,065,805(+) | T/C | 3_prime_UTR_variant | |
| rs115511178 | uncertain-significance, Tumoral calcinosis, familial, hyperphosphatemic | 33,016,760(+) | C/T | coding_sequence_variant, intron_variant, missense_variant | |
| rs116627995 | likely-benign, Tumoral calcinosis, familial, hyperphosphatemic | 33,065,850(+) | T/C | 3_prime_UTR_variant |
| Variant ID | Type | Subtype | PubMed ID |
|---|---|---|---|
| nsv1071091 | CNV | deletion | 25765185 |
| nsv1053839 | CNV | gain | 25217958 |
Residual Variation Intolerance Score:
57% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
9.72;
89.34% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for KL Gene
Disorders for KL Gene
(21) MalaCards diseases for KL Gene - From: HGMD, OMIM, ClinVar, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tumoral calcinosis, hyperphosphatemic, familial |
|
|
| calcinosis |
|
|
| skin atrophy |
|
|
| tracheal calcification |
|
|
| hypophosphatemic rickets and hyperparathyroidism |
|
|
Search KL in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
KLOT_HUMAN- Tumoral calcinosis, hyperphosphatemic, familial (HFTC) [MIM:211900]: A severe metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients manifest recurrent, transient, painful swellings of the long bones associated with the radiographic findings of periosteal reaction and cortical hyperostosis and absence of skin involvement. {ECO:0000269 PubMed:17710231}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for KL
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
No data available for Genatlas for KL Gene
Publications for KL Gene
- A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. (PMID: 17710231) Ichikawa S … Econs MJ (The Journal of clinical investigation 2007) 3 4 22 58
- Klotho gene polymorphisms are associated with osteocalcin levels but not bone density of aged postmenopausal women. (PMID: 16151675) Mullin BH … Prince RL (Calcified tissue international 2005) 3 22 44 58
- Association between a functional variant of the KLOTHO gene and high-density lipoprotein cholesterol, blood pressure, stroke, and longevity. (PMID: 15677572) Arking DE … Dietz HC (Circulation research 2005) 3 4 44 58
- Association of human aging with a functional variant of klotho. (PMID: 11792841) Arking DE … Dietz HC (Proceedings of the National Academy of Sciences of the United States of America 2002) 3 4 44 58
- Identification of the human klotho gene and its two transcripts encoding membrane and secreted klotho protein. (PMID: 9464267) Matsumura Y … Nabeshima Y (Biochemical and biophysical research communications 1998) 2 3 4 58
Products for KL Gene
- R&D Systems Antibodies for KL (Klotho)
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- Sino Biological Anti-His Tag Antibody
- Novus Biologicals Antibodies for KL
- Novus Biologicals lysates and proteins for KL
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
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- Abcam antibodies for KL
- Abcam proteins for KL
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- ProSpec Recombinant Proteins for KL
- Cloud-Clone Corp. Antibodies for KL
- Cloud-Clone Corp. Proteins for KL
- Browse Knockouts at Cloud-Clone Corp.
- Browse Knockins at Cloud-Clone Corp.
- Cloud-Clone Corp. disease models service
- Browse cDNA clones at Cloud-Clone Corp.
- Browse primers at Cloud-Clone Corp.
- Cloud-Clone Corp. primary cells service
- Invitrogen Antibodies for KL
- Cyagen custom Knockout/knockin (KOKI) mouse models for KL
- VectorBuilder custom plasmid, inducible vectors for KL
- VectorBuilder custom lentivirus, adenovirus, AAV vector/virus packaging for KL
- VectorBuilder Other custom vectors
- Mammalian expression: PiggyBac
- Mammalian Tet-on expression: plasmid
- Mammalian conditional (Cre-Lox): plasmid and PiggyBac
- Mammalian shRNA knockdown: lentiviral, adenoviral, AAV, and PiggyBac
- CRISPR: plasmid gRNA, lentiviral gRNA, and donor plasmid
- Bacterial expression: pET, pBAD, and pCS
- Yeast expression
- Addgene plasmids for KL
- antibodies-online: Search results for 90 available KL Antibodies ranked by validation data
- Compare Top KL Antibodies
- Recommended
- 37 WB Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 32 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 16 WB Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- 37 WB Antibodies (anti-human)
- 2 IHC (p) Antibodies (anti-human)
- 32 WB Antibodies (anti-mouse)
- 1 IHC (p) Antibody (anti-mouse)
- 16 WB Antibodies (anti-rat)
- 2 IHC (p) Antibodies (anti-rat)
- antibodies-online: Search results for 49 available KL Elisa Kits ranked by validation data
- Compare Top KL Elisa Kits
- Recommended
- 1 Cow (Bovine) ELISA Kit
- 1 Dog (Canine) ELISA Kit
- 1 Goat ELISA Kit
- 1 Guinea Pig ELISA Kit
- 15 Human ELISA Kits
- 1 Monkey ELISA Kit
- 13 Mouse (Murine) ELISA Kits
- 1 Pig (Porcine) ELISA Kit
- 1 Rabbit ELISA Kit
- 13 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- 1 Cow (Bovine) ELISA Kit
- 1 Dog (Canine) ELISA Kit
- 1 Goat ELISA Kit
- 1 Guinea Pig ELISA Kit
- 15 Human ELISA Kits
- 1 Monkey ELISA Kit
- 13 Mouse (Murine) ELISA Kits
- 1 Pig (Porcine) ELISA Kit
- 1 Rabbit ELISA Kit
- 13 Rat (Rattus) ELISA Kits
- 1 Sheep (Ovine) ELISA Kit
- antibodies-online: Search results for 12 available KL Proteins ranked by validation data
- Compare Top KL Proteins
- GeneTex KL antibody for KL
- GeneTex Proteins for KL
- ViGene Biosciences adenoviral particle packaged cDNA for KL gene
- ViGene Biosciences lentiviral particle packaged cDNA for KL gene
- ViGene Biosciences ready-to-package AAV shRNAs for KL gene
- Search ViGene Biosciences for KL
- Custom Antibody ServicesProSci Antibodies for KL
- ProSci Proteins for KL
- Horizon Cell Lines for KL
- genomics-online: cdna clones - Search results for available KL gene related products
- orf clones - Search results for available KL gene related products
- genomics-online: gRNA clones - Search results for available KL gene related products
- genomics-online: primer clones - Search results for available KL gene related products
- genomics-online: shRNA clones - Search results for available KL gene related products
Sources for KL Gene
- (1) GeneCards
- (2) HGNC
- (3) EntrezGene
- (4) Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) GO
- (12) TrEMBL
- (13) InterPro
- (14) ProtoNet
- (15) Blocks
- (16) MGI
- (17) IUBMB
- (18) KEGG
- (19) MINT
- (20) STRING
- (21) IntAct
- (22) Novoseek
- (23) PharmGKB
- (24) DrugBank
- (25) HMDB
- (26) UniGene
- (27) AceView
- (28) ASD
- (29) ECgene
- (30) GeneAnnot
- (31) CGAP SAGE
- (32) SOURCE
- (33) HomoloGene
- (34) PanEnsembl
- (35) euGenes
- (36) SGD
- (37) FlyBase
- (38) WormBase
- (39) Pseudogene
- (40) DGV
- (41) dbSNP
- (42) GenAtlas
- (43) HGMD
- (44) GAD
- (45) BGMUT
- (46) HuGE
- (47) Atlas
- (48) Cell Signaling Technology
- (49) GenBank
- (50) H-invDB
- (51) HORDE
- (52) HUGE
- (53) IMGT
- (54) Leiden
- (55) miRBase
- (56) DME
- (57) OriGene
- (58) PubMed
- (59) R&D Systems
- (60) TGDB
- (61) Tocris
- (62) Abcam
- (63) Novus Biologicals
- (64) ProSpec
- (65) Sino Biological
- (66) GenScript
- (67) Qiagen
- (68) Cloud-Clone Corp.
- (69) OCA
- (70) Proteopedia
- (71) MOPED
- (72) neXtProt
- (73) Reactome
- (74) GeneGo (Thomson Reuters)
- (75) fRNAdb
- (76) DISEASES
- (77) SIMAP
- (78) GenomeRNAi
- (79) LifeMap
- (80) miRTarBase
- (81) MalaCards
- (82) Invitrogen
- (83) BitterDB
- (84) Vector BioLabs
- (85) ESI-BIO
- (86) RefSeq
- (87) BioSystems
- (88) MaxQB
- (89) IUPHAR
- (90) BioGPS
- (91) Illumina
- (92) COMPARTMENTS
- (93) HOMER
- (94) PaxDb
- (95) ApexBio
- (96) Addgene
- (97) antibodies-online
- (98) CYP
- (99) NONCODE
- (100) SwitchGear Genomics
- (101) TreeFam
- (102) PathCards
- (103) GeneReviews
- (104) GeneTex
- (105) Taconic Biosciences
- (106) GTEx
- (107) ProteomicsDB
- (108) SCBT
- (109) DGIdb
- (110) ClinicalTrials
- (111) FDA Approved Drugs
- (112) RVIS
- (113) SIGNOR
- (114) diseasecard
- (115) NIH Rare Diseases
- (116) Orphanet
- (117) UMLS
- (118) GTR
- (119) Disease Ontology
- (120) Genetics Home Reference
- (121) MeSH
- (122) MedlinePlus
- (123) CDC
- (124) NINDS
- (125) NCBI Bookshelf
- (126) ClinVar
- (127) Gene Damage Index
- (128) ViGene Biosciences
- (129) HPO
- (130) UDN
- (131) VISTA
- (132) FANTOM5
- (133) ENCODE
- (134) ProSci
- (135) Horizon
- (136) NURSA
- (137) IID
- (138) Cyagen
- (139) VectorBuilder
- (140) SNPedia
- (141) BRCA Exchange
- (142) St John's Lab
- (143) CIViC
- (144) ProteoGenix
- (145) dbSUPER
- (146) TISSUES
- (147) Gene ORGANizer
- (148) abm
- (149) CrownBio
- (150) Human Protein Atlas
- (151) GWAS Catalog
- (152) Monarch Initiative
- (153) DataMed
- (154) HumanCyc
- (155) genomics-online
- (156) UCNEbase
- (157) EPDnew