KL Gene (Protein Coding)

Klotho

GC13P033016
GIFtS:
46
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... See more...

Aliases for KL Gene

Aliases for KL Gene

  • Klotho 2 3 4 5
  • EC 3.2.1.31 4 50
  • EC 3.2.1 50
  • HFTC3 3
  • KL 5

External Ids for KL Gene

Previous GeneCards Identifiers for KL Gene

  • GC13P031576
  • GC13P027577
  • GC13P032526
  • GC13P031388
  • GC13P032488
  • GC13P033590
  • GC13P014401

Summaries for KL Gene

Entrez Gene Summary 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 RET signaling and Signaling by GPCR. 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 Summary 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.

Gene Wiki entry for KL Gene

Additional gene information for KL Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for KL Gene

Genomics for KL Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
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 the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for KL

Top Transcription factor binding sites by QIAGEN in the KL gene promoter:
  • AP-1
  • GR
  • GR-alpha
  • p53
  • PPAR-gamma1
  • PPAR-gamma2

Genomic Locations for KL Gene

Latest Assembly
chr13:33,016,063-33,066,143
(GRCh38/hg38)
Size:
50,081 bases
Orientation:
Plus strand

Previous Assembly
chr13:33,590,561-33,640,280
(GRCh37/hg19 by Entrez Gene)
Size:
49,720 bases
Orientation:
Plus strand

chr13:33,590,207-33,640,282
(GRCh37/hg19 by Ensembl)
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:
KL Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for KL Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for KL Gene

Proteins for KL Gene

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  3. Assay products for research

  • Protein details for KL Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q9UEF7-KLOT_HUMAN
    Recommended name:
    Klotho
    Protein Accession:
    Q9UEF7
    Secondary Accessions:
    • 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.
    • [Isoform 2]: Predominates over the membrane form in all tissues examined.

    Three dimensional structures from OCA and Proteopedia for KL Gene

    Alternative splice isoforms for KL Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for KL Gene

Protein Expression for KL Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

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 Asn106, Asn159, Asn283, Asn344, Asn607, Asn612, and Asn694
  • Modification sites at PhosphoSitePlus
  • Glycosylation from GlyConnect

Other Protein References for KL Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for KL Gene

Gene Families for KL Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for KL Gene

InterPro:

Suggested Antigen Peptide Sequences for KL Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ40030 fis, clone STOMA2009250, highly similar to Klotho (EC 3.2.1.31) (B3KUJ4_HUMAN)
  • Klotho (KLOT_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q9UEF7

UniProtKB/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.
genes like me logo Genes that share domains with KL: view

Function for KL Gene

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  1. Animal Models for research
  2. CRISPR products for research
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  6. Cell Lines for research

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:
Reaction=a beta-D-glucuronoside + H2O = an alcohol + D-glucuronate; Xref=Rhea:RHEA:17633, ChEBI:CHEBI:15377, ChEBI:CHEBI:30879, ChEBI:CHEBI:58720, ChEBI:CHEBI:83411; EC=3.2.1.31;.
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

Gene Ontology (GO) - Molecular Function 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:0005104 fibroblast growth factor receptor binding IEA,IBA 21873635
GO:0005179 hormone activity IEA --
GO:0005499 vitamin D binding IEA --
genes like me logo Genes that share ontologies with KL: view
genes like me logo Genes that share phenotypes with KL: view

Human Phenotype Ontology for KL Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for KL Gene

MGI Knock Outs for KL:
  • Kl Kl<tm1.2Tel>
  • Kl Kl<tm1Lex>
  • Kl Kl<tm1Yin>
  • Kl Kl<tm2Yin>

Animal Models for research

  • Taconic Biosciences Mouse Models for KL

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KL

No data available for 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.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for KL gene
Compartment Confidence
plasma membrane 5
extracellular 5
endoplasmic reticulum 4
cytoskeleton 2
mitochondrion 2
nucleus 2
cytosol 2
lysosome 2
golgi apparatus 2
peroxisome 1
endosome 1

Gene Ontology (GO) - Cellular Components for KL Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005576 extracellular region TAS --
GO:0005615 extracellular space IEA --
GO:0005783 endoplasmic reticulum IBA 21873635
GO:0005886 plasma membrane TAS --
GO:0005887 integral component of plasma membrane TAS 9464267
genes like me logo Genes that share ontologies with KL: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for KL Gene

Pathways & Interactions for KL Gene

PathCards logo

SuperPathways for KL Gene

SuperPathway Contained pathways
1 RET signaling
Frs2-mediated activation
.95
GRB2 events in EGFR signaling
.95
MAPK1/MAPK3 signaling
.95
Prolonged ERK activation events
.95
RAF/MAP kinase cascade
.95
SHC1 events in EGFR signaling
.95
Signaling by Leptin
.95
SOS-mediated signalling
.95
VEGFR2 mediated cell proliferation
.95
ARMS-mediated activation
.95
Signalling to ERKs
.95
Signalling to p38 via RIT and RIN
.95
Signalling to RAS
.95
Interleukin receptor SHC signaling
.95
Interleukin-3, 5 and GM-CSF signaling
.94
Interleukin-2 signaling
.94
Downstream signal transduction
.94
Signaling by PDGF
.94
DAP12 signaling
.92
RET signaling
.92
Insulin receptor signalling cascade
.92
Signaling by Insulin receptor
.92
IRS-mediated signalling
.91
Signaling by EGFR
.90
FCERI mediated MAPK activation
.90
IGF1R signaling cascade
.90
IRS-related events triggered by IGF1R
.90
Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R)
.90
DAP12 interactions
.89
NCAM signaling for neurite out-growth
.89
NGF signalling via TRKA from the plasma membrane
.87
MAPK family signaling cascades
.87
Signaling by SCF-KIT
.85
Signalling by NGF
.81
Fc epsilon receptor (FCERI) signaling
.79
VEGFA-VEGFR2 Pathway
.78
Signaling by VEGF
.76
Gastrin-CREB signalling pathway via PKC and MAPK
.55
2 PI3K/AKT activation
Negative regulation of the PI3K/AKT network
.93
PI5P, PP2A and IER3 Regulate PI3K/AKT Signaling
.93
PIP3 activates AKT signaling
.91
Role of LAT2/NTAL/LAB on calcium mobilization
.91
GAB1 signalosome
.89
PI3K/AKT activation
.89
Constitutive Signaling by Aberrant PI3K in Cancer
.75
PI3K/AKT Signaling in Cancer
.72
3 Downstream signaling of activated FGFR2
FRS-mediated FGFR1 signaling
.83
SHC-mediated cascade-FGFR1
.83
PI-3K cascade-FGFR1
.76
Downstream signaling of activated FGFR1
.74
FGFR1c and Klotho ligand binding and activation
.01
Phospholipase C-mediated cascade- FGFR1
.01
4 Negative regulation of FGFR3 signaling
Negative regulation of FGFR1 signaling
.81
Signaling by FGFR1
.70
FGFR1 ligand binding and activation
.01
5 Pentose and glucuronate interconversions
Ascorbate and aldarate metabolism
.56
Pentose and glucuronate interconversions
.56
genes like me logo Genes that share pathways with KL: view

Gene Ontology (GO) - Biological Process 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 IMP 11792841
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with KL: view

No data available for SIGNOR curated interactions for KL Gene

Drugs & Compounds for KL Gene

Products:

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(7) Drugs for KL Gene - From: PharmGKB, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Isopropyl alcohol Approved, Investigational Pharma 0
Propyl alcohol Approved Pharma 0
Water Approved Pharma 0
1-Butanol Experimental Pharma 0
Beta Blocking Agents Pharma 0

(5) Additional Compounds for KL Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
1-Hexanol
  • 1-Hexyl alcohol
  • 1-Hydroxyhexane
  • Caproic alcohol
  • Hexanol
  • N-Hexyl alcohol
 111-27-3
1-Pentanol
  • 1-Pentol
  • 1-Pentyl alcohol
  • Alcool amylique
  • Amyl alcohol, normal
  • Amylalkohol
 71-41-0
D-Glucuronic acid
  • GlcAa
  • GlcAalpha
  • D-Glucuronate
  • alpha-D-Glucopyranuronic acid
  • alpha-D-Glucuronic acid
 70021-34-0
Isobutanol
  • 1-Hydroxymethylpropane
  • 2-Methyl-1-propanol
  • 2-Methylpropanol
  • I-butanol
  • I-butyl alcohol
 78-83-1
genes like me logo Genes that share compounds with KL: view

Transcripts for KL Gene

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  2. miRNA products for research
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mRNA/cDNA for KL Gene

2 REFSEQ mRNAs :
4 NCBI additional mRNA sequence :
2 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for KL

Alternative Splicing Database (ASD) splice patterns (SP) for KL Gene

ExUns: 1 ^ 2 ^ 3a · 3b ^ 4a · 4b · 4c ^ 5a · 5b ^ 6
SP1: - -
SP2:
SP3:

Relevant External Links for KL Gene

GeneLoc Exon Structure for
KL

Expression for KL Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for KL Gene

mRNA expression in normal human tissues for KL Gene
mRNA expression by BioGPS for KL GenemRNA expression by GTEx for KL Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for KL Gene

This gene is overexpressed in Kidney - Cortex (x10.0).

Protein differential expression in normal tissues from HIPED for KL Gene

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



Protein tissue co-expression partners for KL Gene

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for KL

SOURCE GeneReport for Unigene cluster for KL Gene:

Hs.524953

mRNA 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(4.5)
  • Thyroid gland(2.5)
  • Bone(2.4)
  • Urine(2.3)
  • Blood(2.3)
  • Muscle(2.3)
  • Heart(2.2)
  • Intestine(2.1)

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

Primer products for research

Orthologs for KL Gene

This gene was present in the common ancestor of animals.

Orthologs for KL Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia KL 29 30
  • 99.41 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia KL 29 30
  • 88.65 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia KL 29 30
  • 85.96 (n)
 OneToOne
Mouse
(Mus musculus)
 Mammalia Kl 29 16 30
  • 84.51 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Kl 29
  • 83.83 (n)
Oppossum
(Monodelphis domestica)
 Mammalia KL 30
  • 80 (a)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia KL 30
  • 77 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves KL 29 30
  • 72.91 (n)
 OneToOne
Lizard
(Anolis carolinensis)
 Reptilia KL 30
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia kl 29
  • 67.26 (n)
Zebrafish
(Danio rerio)
 Actinopterygii kl 29 30
  • 58.2 (n)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta CG9701 30
  • 33 (a)
 OneToMany
Worm
(Caenorhabditis elegans)
 Secernentea klo-2 30
  • 31 (a)
 ManyToMany
klo-1 30
  • 31 (a)
 ManyToMany
C50F7.10 31
  • 31 (a)
E02H9.5 31
  • 31 (a)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 30
  • 36 (a)
 OneToMany
Species where no ortholog for KL was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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 Vase (Ciona intestinalis)
  • 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
Alliance of Genome Resources:
Additional Orthologs for KL

Paralogs for KL Gene

Paralogs for KL Gene

(2) SIMAP similar genes for KL Gene using alignment to 2 proteins:

  • KLOT_HUMAN
  • B3KUJ4_HUMAN
genes like me logo Genes that share paralogs with KL: view

Variants for KL Gene

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  1. SNP Genotyping and Copy Number Assays for research

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.

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for KL Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
1032941 Pathogenic: Hyperphosphatemic familial tumoral calcinosis 1 33,060,835(+) C/T
NM_004795.4(KL):c.1756C>T (p.Gln586Ter) 		NONSENSE
880587 Uncertain Significance: Hyperphosphatemic familial tumoral calcinosis 3 33,064,652(+) A/T
NM_004795.4(KL):c.*466A>T 		THREE_PRIME_UTR
880588 Uncertain Significance: Hyperphosphatemic familial tumoral calcinosis 3 33,064,773(+) G/C
NM_004795.4(KL):c.*587G>C 		THREE_PRIME_UTR
880589 Uncertain Significance: Hyperphosphatemic familial tumoral calcinosis 3 33,064,979(+) G/T
NM_004795.4(KL):c.*793G>T 		THREE_PRIME_UTR
881364 Uncertain Significance: Hyperphosphatemic familial tumoral calcinosis 3 33,016,455(+) C/T
NM_004795.4(KL):c.15C>T (p.Ala5=) 		SYNONYMOUS

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for KL Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

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

Variant ID Type Subtype PubMed ID
nsv1053839 CNV gain 25217958
nsv1071091 CNV deletion 25765185

Variation tolerance for KL Gene

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

Human Gene Mutation Database (HGMD)
KL
SNPedia medical, phenotypic, and genealogical associations of SNPs for
KL
Leiden Open Variation Database (LOVD)
KL

SNP Genotyping and Copy Number Assays for research

Disorders for KL Gene

MalaCards: The human disease database

(48) MalaCards diseases for KL Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search KL in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

KLOT_HUMAN
  • Tumoral calcinosis, hyperphosphatemic, familial, 3 (HFTC3) [MIM:617994]: A form of hyperphosphatemic tumoral calcinosis, a rare autosomal recessive metabolic disorder that manifests with hyperphosphatemia and massive calcium deposits in the skin and subcutaneous tissues. Some patients have 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 variants affecting the gene represented in this entry.

Additional Disease Information for KL

Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with KL: view

No data available for Genatlas for KL Gene

Publications for KL Gene

  1. 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 72
  2. 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 40
  3. 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 40
  4. 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 40
  5. 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

ExternalLinks

View latest publications for KL gene in Mastermind

Products for KL Gene

  • Invitrogen Antibodies for KL (AFLGC-KL)
  • Addgene plasmids for KL
  • Boster Bio Antibodies for KL
  • Boster Bio ELISA Kits for KL

Sources for KL Gene