cystinosin, lysosomal cystine transporter

Summary
Gene Symbol
  • CTNS
Aliases
  • CTNS-LSB
  • PQLC4
  • SLC66A4
Organism
Homo sapiens (human)
External Links
NCBI Gene
1497
HGNC
2518
KEGG Gene ID
hsa:1497
PubChem
1497
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Direct protein sequencing
  • Disease variant
  • Glycoprotein
  • Lysosome
  • Melanin biosynthesis
  • Protein transport
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Signal
  • Symport
  • Transmembrane helix
  • Transport
Proteins
Displaying all 4 entries
UniProt Protein Name
O60931
I3L4A9
A0A0S2Z3K3
A0A0S2Z3I9
Gene Ontology (GO)
GO Hierarchy
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K12386
Name
cystinosin
References
Disease
Disease Ontology
Displaying entries 61 - 70 of 102 in total
DO ID Disease Name Source
DOID:11105 fundus albipunctatus
DOID:11155 hypohidrosis
DOID:11156 anhidrosis
DOID:11541 recurrent corneal erosion
DOID:11719 oculopharyngeal muscular dystrophy
DOID:11720 distal myopathy
DOID:11724 limb-girdle muscular dystrophy
DOID:11727 facioscapulohumeral muscular dystrophy
DOID:11870 Pick's disease
DOID:1222 cartilage disease
The Human Phenotype Ontology
Displaying entries 91 - 99 of 99 in total
HPO ID HPO Term
HP:0011462 Young adult onset
HP:0011968 Feeding difficulties
HP:0012408 Medullary nephrocalcinosis
HP:0012598 Abnormal urine potassium concentration
HP:0012622 Chronic kidney disease
HP:0100511 Abnormality of vitamin D metabolism
HP:0100512 Decreased circulating vitamin D concentration
HP:0100543 Cognitive impairment
HP:0200026 Ocular pain
Displaying all 6 entries
Disease ID Disease Name
OMIM:219800
  • nephropathic cystinosis
ORPHA:411629
  • nephropathic infantile cystinosis
OMIM:219900
  • juvenile nephropathic cystinosis
ORPHA:411641
  • ocular cystinosis
ORPHA:411634
  • juvenile nephropathic cystinosis
OMIM:219750
  • ocular cystinosis

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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