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, 3 and Tumoral Calcinosis, Hyperphosphatemic, Familial, 1. Among its related pathways are Downstream signaling of activated FGFR2 and RET signaling. Gene Ontology (GO) annotations related to this gene include obsolete 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 from 2017 publication | Request up-to-date GeneHancer data (full dataset)
GeneHancers around KL on UCSC Golden Path with GeneCards custom track
- Top Transcription factor binding sites by QIAGEN in the KL gene promoter:
-
- AP-1
- p53
- PPAR-gamma1
- PPAR-gamma2
- GR-alpha
- GR
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)
- Size:
- 50,076 bases
- Orientation:
- Plus strand
Genomic View for KL Gene
Genes around KL on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 13q13.1 by Entrez Gene
- 13q13.1 by HGNC
- 13q13.1 by Ensembl
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
Post-translational modifications for KL Gene
- N-glycosylated.
- Glycosylation at isoforms=694, isoforms=612, isoforms=607, Asn344, Asn283, Asn159, and isoforms=2106
- Modification sites at PhosphoSitePlus
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
- Invitrogen Antibodies 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)
- GeneTex Kl Antibody for KL
-
Boster Bio Antibodies for KL
-
Custom Antibody ServicesProSci Antibodies for KL
-
Santa Cruz Biotechnology (SCBT) 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
- 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 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
-
Boster Bio ELISA Kits for KL
No data available for DME Specific Peptides for KL Gene
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
- 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.
- UniProtKB/Swiss-Prot CatalyticActivity:
- A beta-D-glucuronoside + H(2)O = D-glucuronate + an alcohol.
- GENATLAS Biochemistry:
- murine klotho gene homolog,with two spliced variants one secreted predominantly over the membrane form
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 | obsolete signal transducer activity | 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
- cardiovascular system phenotype
- respiratory system phenotype
- limbs/digits/tail phenotype
- vision/eye phenotype
- digestive/alimentary phenotype
- homeostasis/metabolism phenotype
- nervous system phenotype
- behavior/neurological phenotype
- integument phenotype
- endocrine/exocrine gland phenotype
- mortality/aging
- cellular phenotype
- muscle phenotype
- craniofacial phenotype
- liver/biliary system phenotype
- reproductive system phenotype
- skeleton phenotype
- hearing/vestibular/ear phenotype
- renal/urinary system phenotype
- adipose tissue phenotype
- hematopoietic system phenotype
- immune system phenotype
- growth/size/body region phenotype
- GenomeRNAi human phenotypes for KL:
Animal Models for KL Gene
Animal Model Products
-
Taconic Biosciences Mouse Models for KL
- Cyagen custom Knockout/knockin (KOKI) mouse models for KL
-
CRISPR Products
-
OriGene CRISPR knockouts for KL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KL
- Browse OriGene Inhibitory RNA Products For KL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KL
- genomics-online: shRNA clones - Search results for available KL gene related products
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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
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 FGFR1 signaling | ||
| 5 | Developmental Biology |
.51
|
|
Pathways by source for KL Gene
70 Reactome pathways for KL Gene
Interacting Proteins for KL Gene
GPS-Prot Interaction Network for KL
| 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 | 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 |
|
Drug Products
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 :
-
- ENST00000380099 5006 bps (uc001uus.3)
- ENST00000487852 3214 bps (uc058whb.1)
CRISPR Products
-
OriGene CRISPR knockouts for KL
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products 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
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KL
- Browse OriGene Inhibitory RNA Products For KL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KL
- genomics-online: shRNA clones - Search results for available KL gene related products
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
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products 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
-
Brain (Nervous System)
- Mature Choroid Plexus Cells Choroid Plexus
-
Epithelial Cells
- 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 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)
- Bone(2.1)
- Blood(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
Gene Expression Assay 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 34 33 |
|
OneToOne | |
| cow (Bos Taurus) |
Mammalia | KL 34 33 |
|
OneToOne | |
| dog (Canis familiaris) |
Mammalia | KL 34 33 |
|
OneToOne | |
| mouse (Mus musculus) |
Mammalia | Kl 16 34 33 |
|
||
| 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 34 33 |
|
OneToOne | |
| lizard (Anolis carolinensis) |
Reptilia | KL 34 |
|
OneToOne | |
| tropical clawed frog (Silurana tropicalis) |
Amphibia | kl 33 |
|
||
| zebrafish (Danio rerio) |
Actinopterygii | kl 34 33 |
|
OneToOne | |
| fruit fly (Drosophila melanogaster) |
Insecta | CG9701 34 |
|
OneToMany | |
| worm (Caenorhabditis elegans) |
Secernentea | klo-2 34 |
|
ManyToMany | |
| klo-1 34 |
|
ManyToMany | |||
| E02H9.5 35 |
|
|
|||
| C50F7.10 35 |
|
|
|||
| 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)
Evolution for KL Gene
- ENSEMBL:
- Gene Tree for KL (if available)
- TreeFam:
- Gene Tree for KL (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for KL: view image
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 |
|---|---|---|---|
| nsv1053839 | CNV | gain | 25217958 |
| nsv1071091 | CNV | deletion | 25765185 |
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
SNP Genotyping and Copy Number Assay Products
Disorders for KL Gene
(21) MalaCards diseases for KL Gene - From: HGMD, OMIM, GTR, Orphanet, Swiss-Prot, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| tumoral calcinosis, hyperphosphatemic, familial, 3 |
|
|
| tumoral calcinosis, hyperphosphatemic, familial, 1 |
|
|
| calcinosis |
|
|
| skin atrophy |
|
|
| tracheal calcification |
|
|
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
- 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
- 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 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)
- R&D Systems Proteins and Enzymes for KL (Klotho)
- R&D Systems ELISAs and other biochemical assays for KL (Klotho)
- Browse Human Proteins and Enzymes
- Browse Primary Antibodies
- Browse Proteins and Enzymes
- Browse ELISAs
- Browse Activity Assays
- Browse cDNA Clones
- Browse Cell Culture Products
- Browse Cell Selection and Detection Kits
- Browse DNA Damage and Repair Kits
- Browse ELISpot/FluoroSpot Kits and Development Modules
- Browse Flow Cytometry Kits
- Browse Immunoprecipitation Assays
- Browse Luminex Assays
- Browse Peptides
- Browse Proteome Profiler Antibody Arrays
- Browse Small Molecules
- Custom Antibody Services
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for KL
- Search Origene for MassSpec and Protein Over-expression Lysates for KL
- Origene Custom Protein Services for KL
- Origene shrna, sirna, and RNAi products in human, mouse, rat for KL
- Browse OriGene Inhibitory RNA Products For KL
- OriGene qPCR primer pairs for KL
- OriGene CRISPR knockouts for KL
- OriGene ORF clones in human for KL
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For KL
- GenScript: Next-day shipping of latest version cDNA ORF clones for KL in any vector
- GenScript Custom Purified and Recombinant Proteins Services for KL
- GenScript Custom Assay Services for KL
- GenScript Custom overexpressing Cell Line Services for KL
- GenScript: Design CRISPR guide RNA sequences for KL
- Design optimal peptide antigens
- CloneReady with Over 120,000 Genes
- Gene Synthesis: Any Gene in Any Vector
- Vector-based siRNA and miRNA, Ready for Transfection
- Gene Mutant Library, Variants up to 10^11
- Plasmid Preparation
- GenScript Custom Peptide Services for KL
- Browse Sino Biological cDNA Clones
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Browse Sino Biological Antibodies
- Browse Sino Biological Assays
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for KL
- Novus Biologicals lysates and proteins for KL
- Novus Biologicals
- Novus Biologicals Tissue Microarrays
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam antibodies for KL
- Abcam proteins for KL
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- ProSpec Recombinant Proteins for KL
- Taconic Biosciences Mouse Models for KL
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- 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
- Santa Cruz Biotechnology (SCBT) Antibodies for KL
- Search Santa Cruz Biotechnology (SCBT) for KL siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR 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
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for KL
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for KL
- GeneCopoeia miRNA 3'UTR Target clone products for KL
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KL
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
- (158) Applied Biosystems
- (159) GlyConnect
- (160) Aminode
- (161) GeneCopoeia
- (162) GPS-Prot
- (163) RNACentral
- (164) LncRNADisease
- (165) LOVD
- (166) miR2Disease
- (167) DiseaseEnhancer
- (168) Boster Bio
- (169) Biorbyt