Gene table of CTNS : cystinosin, lysosomal cystine transporter

Gene-disease associations table

Disease IDDisease nameSource of annotation with CTNSOMIM linkNumber of associated genesgenes
219750CYSTINOSIS, ADULT NONNEPHROPATHICOMIM, HUMSAVAR link to OMIM 1CTNS
219900CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC TYPEClinVar, OMIM, HUMSAVAR link to OMIM 1CTNS
219800CYSTINOSIS, NEPHROPATHICClinVar, OMIM, HUMSAVAR link to OMIM 1CTNS

Download the gene annotation in CSV format

Annotation of the gene CTNS

Associated genes in ENSEMBL
Associated proteins - SwissProt Accession ID
Associated PDB IDs
Cytogenetic Band
Tandem repeats annotation
Transcription regulation as annotated in TRRUST
Associated KEGG pathways
KEGG pathwayKEGG IDKEGG IC
Lysosomehsa041425.78
Associated REACTOME pathways
REACTOME pathwayREACTOME IDREACTOME IC
SLC-mediated transmembrane transportR-HSA-4254074.95
Transport of inorganic cations/anions and amino acids/oligopeptidesR-HSA-4253936.41
Miscellaneous transport and binding eventsR-HSA-52233458.66
Transmembrane transport of small moleculesR-HSA-3825513.79
Associated GO terms for Molecular function
GO termGO IDGO IC
substrate-specific transmembrane transporter activityGO:00228912.9
sulfur compound transmembrane transporter activityGO:19016826.44
sulfur amino acid transmembrane transporter activityGO:00000997.79
organic acid transmembrane transporter activityGO:00053424.97
transporter activityGO:00052152.57
modified amino acid transmembrane transporter activityGO:00723496.97
transmembrane transporter activityGO:00228572.82
substrate-specific transporter activityGO:00228922.72
L-amino acid transmembrane transporter activityGO:00151796.0
L-cystine transmembrane transporter activityGO:00151848.35
amino acid transmembrane transporter activityGO:00151715.38
carboxylic acid transmembrane transporter activityGO:00469434.99