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 51 - 60 of 102 in total
DO ID Disease Name Source
DOID:10141 obsolete asthenopia
DOID:10573 osteomalacia
DOID:10584 retinitis pigmentosa
DOID:10609 rickets
DOID:1062 Fanconi syndrome
DOID:1064 cystinosis
DOID:10652 Alzheimer's disease
DOID:1074 kidney failure
DOID:10787 premature menopause
DOID:10952 nephritis
The Human Phenotype Ontology
Displaying entries 31 - 40 of 99 in total
HPO ID HPO Term
HP:0001508 Failure to thrive
HP:0001510 Growth delay
HP:0001531 Failure to thrive in infancy
HP:0001738 Exocrine pancreatic insufficiency
HP:0001744 Splenomegaly
HP:0001824 Weight loss
HP:0001941 Acidosis
HP:0001942 Metabolic acidosis
HP:0001944 Dehydration
HP:0001959 Polydipsia
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