klotho

Summary
Gene Symbol
  • KL
Aliases
  • KLA
  • alpha-klotho
Organism
Homo sapiens (human)
External Links
NCBI Gene
9365
HGNC
6344
KEGG Gene ID
hsa:9365
PubChem
9365
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Disease variant
  • Glycoprotein
  • Glycosidase
  • Hormone
  • Reference proteome
  • Repeat
  • Secreted
  • Signal
  • Transmembrane helix
  • Vitamin D
Proteins
Displaying 1 entry
UniProt Protein Name
Q9UEF7
Gene Ontology (GO)
GO Hierarchy
KEGG BRITE Database
Orthology
K14756
Name
klotho [EC:3.2.1.31]
References
Disease
Disease Ontology
Displaying entries 21 - 30 of 345 in total
DO ID Disease Name Source
DOID:0060190 ileocolitis
DOID:0060224 atrial fibrillation
DOID:0060247 Smith-McCort dysplasia
DOID:0060254 Robinow syndrome
DOID:0060578 Noonan syndrome 1
DOID:0060580 Noonan syndrome 2
DOID:0060581 Noonan syndrome 3
DOID:0060582 Noonan syndrome 4
DOID:0060583 Noonan syndrome 5
DOID:0060584 Noonan syndrome 6
The Human Phenotype Ontology
Displaying entries 1 - 10 of 14 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000103 Polyuria
HP:0000787 Nephrolithiasis
HP:0000938 Osteopenia
HP:0001959 Polydipsia
HP:0002315 Headache
HP:0002514 Cerebral calcification
HP:0002905 Hyperphosphatemia
HP:0003072 Hypercalcemia
HP:0003165 Elevated circulating parathyroid hormone level
Displaying 1 entry
Disease ID Disease Name
OMIM:617994
  • tumoral calcinosis, hyperphosphatemic, familial, 3

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024