The CTNS gene homepage

General information
Gene symbol CTNS
Gene name cystinosin, lysosomal cystine transporter
Chromosome 17
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_012489.2
Transcript reference NM_001031681.2, NM_004937.2
Exon/intron information NM_001031681.2 exon/intron table
Associated with diseases Cystinosis, cystinosis, late-onset juvenile or adolescent nephropathic, Cystinosis, ocular nonnephropathic
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Miguel Angel Alcántara-Ortigoza
Total number of public variants reported 131
Unique public DNA variants reported 62
Individuals with public variants 220
Hidden variants 7
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created September 13, 2012
Date last updated March 16, 2021
Version CTNS:210316

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001031681.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 2518
Entrez Gene 1497
PubMed articles CTNS
OMIM - Gene 606272
OMIM - Diseases Cystinosis
cystinosis, late-onset juvenile or adolescent nephropathic
Cystinosis, ocular nonnephropathic
GeneCards CTNS
GeneTests CTNS
Orphanet CTNS

Active transcripts




NCBI ID     

NCBI Protein ID     

00025446 17 transcript variant 1 NM_001031681.2 NP_001026851.2 130
00001475 17 transcript variant 2 NM_004937.2 NP_004928.2 27

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