Property Summary

NCBI Gene PubMed Count 52
PubMed Score 197.21
PubTator Score 115.70

Knowledge Summary


No data available


  Differential Expression (4)

Disease log2 FC p
astrocytoma 1.200 8.9e-04
atypical teratoid / rhabdoid tumor 1.400 2.1e-05
glioblastoma 1.300 2.0e-04
posterior fossa group A ependymoma 1.200 8.5e-11

Gene RIF (27)

25866837 identified two novel CTNS splicing deletions in a Chinese IC family, one at the donor site of exon 6 of CTNS and the other at the acceptor site of exon 8
25811383 cystinosin-deficient cells had abnormal shape and distribution of the endo-lysosomal compartments and impaired endocytosis, with decreased surface expression of multiligand receptors and delayed lysosomal cargo processing.
25326109 We recommend that black South African and Cape Coloured patients presenting with cystinosis be tested for CTNS-c.971-12G > A in the first instance, with the possibility of prenatal testing being offered to at-risk families.
23640116 The present data exhibit a fundament for molecular carrier detection and prenatal diagnosis of a relatively large percentage of Iranian patients suffering from NC
22649030 results objectify the pigmentation defect in patients with cystinosis. We also identify the role of CTNS in melanogenesis and add a new gene to the list of the genes involved in the control of skin and hair pigmentation
22544350 CTNS-LKG represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
22450360 Mutation analysis of CTNS in six cystinosis patients from four families in Thailand. Using PCR sequencing of the entire coding regions, study identified all eight mutant alleles, including two mutations, p.G309D and p.Q284X, that have not been previously reported.
22363504 Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors.[cytonosin]
22232659 cystinosin exports the proteolysis-derived dimeric amino acid cystine from lysosomes and is impaired in cystinosis.
21786142 Report CTNS mutations in Turkish cystinosis patients.
21508882 CTNS plays a pivotal role in regulating cell thiol concentrations.
20413906 the cause of cellular ATP depletion in nephrotic cystinosis may be the futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase
20352457 Analysis of CTNS gene transcripts allowed identification of mutations in patients in whom CTNS mutations could not be detected by traditional DNA sequencing.
20079424 gene expression is modulated by intracellular thiols
19863563 Analysis of the CTNS gene in 32 cystinosis patients from Spain
19852576 Eight mutations were identified, four of which are novel (c.530A>G, c.681G>A, 1013T>G, and c.1018_1041del). These alleles will provide the basis for routine molecular diagnosis of cystinosis.
19580442 Sequencing analysis of all the CTNS exons revealed that the proband is homozygous for a 3-bp in-frame deletion in exon 10 (c.809_811delCCT), resulting in the loss of a conserved p.Ser270del within the fifth transmembrane domain of CTNS.
18752449 Analysis of the CTNS gene in nephrotic cystinosis Mexian patients: report of four novel mutations and identification of a false-positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
17643777 There may be an influence of the cystinosis gene on brain development, rather than an adverse effect of prolonged cystine accumulation in the brain during childhood.
17137217 Observational study of gene-disease association. (HuGE Navigator)
15885099 Results show that the yeast Ers1 protein and cystinosin are functional orthologues, despite sharing only limited sequence homology.
15365816 a 57-kb deletion in CTNS causing cystinosis can be visualized by FISH technique
12442267 Data suggest that these individuals carry mutations either in the introns or in unidentified regulatory sequences.
12401840 molecular basis of cystinosis - review.
11708862 A new homozygous GT-->CC substitution of CTNS creates the out-of-frame splicing of exon 5 and a null allele consistent with the patient's severe phenotype.
11565547 G339R mutation is a common cause of nephropathic cystinosis in the southwestern Ontario Amish Mennonite population
11505338 specific promotor mutations cause cystinosis

AA Sequence

IQHFCLYRKRPGYDQLN                                                         351 - 367

Text Mined References (55)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
25866837 2015 First report of CTNS mutations in a Chinese family with infantile cystinosis.
25811383 2015 Endo-lysosomal dysfunction in human proximal tubular epithelial cells deficient for lysosomal cystine transporter cystinosin.
25326109 2015 Common mutation causes cystinosis in the majority of black South African patients.
23640116 2013 The first molecular genetics analysis of individuals suffering from nephropatic cystinosis in the Southwestern Iran.
22649030 2012 Cystinosin is a melanosomal protein that regulates melanin synthesis.
22544350 2012 Distribution of cystinosin-LKG in human tissues.
22450360 2012 Two novel CTNS mutations in cystinosis patients in Thailand.
22363504 2012 Cystinosin, MPDU1, SWEETs and KDELR belong to a well-defined protein family with putative function of cargo receptors involved in vesicle trafficking.
22232659 2012 Mechanism of proton/substrate coupling in the heptahelical lysosomal transporter cystinosin.
21786142 2012 Genetic basis of cystinosis in Turkish patients: a single-center experience.
21508882 2011 Transcriptional and posttranscriptional regulation of the CTNS gene.
20413906 2010 A futile cycle, formed between two ATP-dependant gamma-glutamyl cycle enzymes, gamma-glutamyl cysteine synthetase and 5-oxoprolinase: the cause of cellular ATP depletion in nephrotic cystinosis?
20352457 2010 Analysis of CTNS gene transcripts in nephropathic cystinosis.
20079424 2010 Modulation of CTNS gene expression by intracellular thiols.
19863563 2009 Analysis of the CTNS gene in 32 cystinosis patients from Spain.
19852576 2009 Characterization of CTNS mutations in Arab patients with cystinosis.
19580442 2009 An Indian boy with nephropathic cystinosis: a case report and molecular analysis of CTNS mutation.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
18752449 2008 Analysis of the CTNS gene in nephropathic cystinosis Mexican patients: report of four novel mutations and identification of a false positive 57-kb deletion genotype with LDM-2/exon 4 multiplex PCR assay.
18337546 2008 Identification and subcellular localization of a new cystinosin isoform.
17897319 2007 Integral and associated lysosomal membrane proteins.
17643777 2007 Specific cognitive deficits in young children with cystinosis: evidence for an early effect of the cystinosin gene on neural function.
17471495 2007 Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis.
17137217 2006 Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension.
16625196 2006 DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage.
16439594 2006 Decreased intracellular ATP content and intact mitochondrial energy generating capacity in human cystinotic fibroblasts.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15956064 2005 Altered status of glutathione and its metabolites in cystinotic cells.
15885099 2005 ERS1 encodes a functional homologue of the human lysosomal cystine transporter.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15365816 2004 FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis.
15128704 2004 Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12825071 2003 Mutational spectrum of the CTNS gene in Italy.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12442267 2002 Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis.
12401840 2002 Cystinosis: from gene to disease.
12204010 2002 Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis.
12138135 2002 Immunolocalization of cystinosin, the protein defective in cystinosis.
12110740 2002 Cystinosis.
11855931 2002 Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.
11505338 2001 The promoter of a lysosomal membrane transporter gene, CTNS, binds Sp-1, shares sequences with the promoter of an adjacent gene, CARKL, and causes cystinosis if mutated in a critical region.
11150305 2001 The targeting of cystinosin to the lysosomal membrane requires a tyrosine-based signal and a novel sorting motif.
11121245 2000 Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns.
10673275 2000 The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion.
10625078 2000 Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations.
10571941 1999 CTNS mutations in patients with cystinosis.
10556299 1999 Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin.
10482956 1999 Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation.
10444339 1999 Mutations of CTNS causing intermediate cystinosis.
10068513 1999 Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS).
9792862 1998 CTNS mutations in an American-based population of cystinosis patients.
9537412 1998 A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis.
7112129 1982 Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis.