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CTNS Gene

protein-coding   GIFtS: 63
GCID: GC17P003539

Cystinosin, Lysosomal Cystine Transporter

(Previous names: cystinosis, nephropathic)
  See CTNS-related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
Cystinosin, Lysosomal Cystine Transporter1 2
Cystinosis, Nephropathic1
CTNS-LSB2
PQLC42
cystinosin2

External Ids:    HGNC: 25181   Entrez Gene: 14972   Ensembl: ENSG000000405317   OMIM: 6062725   UniProtKB: O609313   

Export aliases for CTNS gene to outside databases

Previous GC identifers: GC17P003854 GC17P003490 GC17P003746 GC17P003486 GC17P003431


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CTNS Gene:
This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its
activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause
cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. (provided
by RefSeq, Jul 2009)

GeneCards Summary for CTNS Gene:
CTNS (cystinosin, lysosomal cystine transporter) is a protein-coding gene. Diseases associated with CTNS include intermediate cystinosis, and cystinosis, atypical nephropathic. GO annotations related to this gene include L-cystine transmembrane transporter activity.

UniProtKB/Swiss-Prot: CTNS_HUMAN, O60931
Function: Thought to transport cystine out of lysosomes

Gene Wiki entry for CTNS Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence at NCBI GenBank:
NC_000017.10  NT_010718.17  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CTNS gene promoter:
         USF1   FAC1   AML1a   Tal-1   ZID   Nkx2-5   E47   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCTNS promoter sequence
   Search Chromatin IP Primers for CTNS

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CTNS


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 17p13   Ensembl cytogenetic band:  17p13.2   HGNC cytogenetic band: 17p13

CTNS Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CTNS gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P003539:  view genomic region     (about GC identifiers)

Start:
3,539,762 bp from pter      End:
3,566,397 bp from pter
Size:
26,636 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, and/or antibodies-online,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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UniProtKB/Swiss-Prot: CTNS_HUMAN, O60931 (See protein sequence)
Recommended Name: Cystinosin  
Size: 367 amino acids; 41738 Da
Secondary accessions: D3DTJ5 Q8IZ01 Q9UNK6
Alternative splicing: 2 isoforms:  O60931-1   O60931-2   

Explore the universe of human proteins at neXtProt for CTNS: NX_O60931

Explore proteomics data for CTNS at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn36, Asn41, Asn51, Asn66, Asn84, Asn104, Asn107

  • See CTNS Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins (2 alternative transcripts): 
    NP_001026851.2  NP_004928.2  

    ENSEMBL proteins: 
     ENSP00000046640   ENSP00000371294   ENSP00000408652   ENSP00000461118   ENSP00000461056  
     ENSP00000458912   ENSP00000382245   ENSP00000458457   ENSP00000411465   ENSP00000395471  

    CTNS Human Recombinant Protein Products:

    Browse Purified and Recombinant Proteins at EMD Millipore
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    OriGene Purified Protein for CTNS
    OriGene Protein Over-expression Lysate for CTNS
    OriGene Custom MassSpec
    OriGene Custom Protein Services for CTNS
    GenScript Custom Purified and Recombinant Proteins Services for CTNS
    Novus Biologicals CTNS Protein
    Novus Biologicals CTNS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse Sino Biological Cell Lysates
    Browse ProSpec Recombinant Proteins
    Cloud-Clone Corp. Proteins for CTNS

     
    Search eBioscience for Proteins for CTNS 

     
    antibodies-online proteins for CTNS (8 products) 

     
    antibodies-online peptides for CTNS

    CTNS Antibody Products:

    EMD Millipore Mono- and Polyclonal Antibodies for the study of CTNS
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    Search for Antibodies for CTNS at Abcam
    Cloud-Clone Corp. Antibodies for CTNS
    Search ThermoFisher Antibodies for CTNS
    antibodies-online antibodies for CTNS (30 products) 

    CTNS Assay Products:

    Browse Kits and Assays available from EMD Millipore
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    GenScript Custom Assay Services for CTNS
    Browse Enzo Life Sciences for kits & assays
    Cloud-Clone Corp. ELISAs for CTNS
    Cloud-Clone Corp. CLIAs for CTNS
    Search eBioscience for ELISAs for CTNS 
    antibodies-online kits for CTNS (6 products) 


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    2 InterPro protein domains:
     IPR005282 LC_transporter
     IPR006603 PQ-loop_rpt

    Graphical View of Domain Structure for InterPro Entry O60931

    ProtoNet protein and cluster: O60931

    1 Blocks protein domain: IPB006603 Cystinosin/ERS1p repeat

    UniProtKB/Swiss-Prot: CTNS_HUMAN, O60931
    Similarity: Belongs to the cystinosin family
    Similarity: Contains 2 PQ-loop domains


    Find genes that share domains with CTNS           About GenesLikeMe


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: CTNS_HUMAN, O60931
    Function: Thought to transport cystine out of lysosomes

         Genatlas biochemistry entry for CTNS:
    cytinosin,strongly expressed in pancreas,kidney,skeletal muscle,homolog to C elegans C41C4.7 protein and yeast
    ERS1,involved in cystine transport across the lysosomal membrane

         Gene Ontology (GO): 1 molecular function term:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015184L-cystine transmembrane transporter activity NAS9537412
         
    Find genes that share ontologies with CTNS           About GenesLikeMe


    Phenotypes:
         1 GenomeRNAi human phenotype for CTNS:
     Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 1 allele(MGI details for Ctns):
     behavior/neurological  cellular  homeostasis/metabolism  muscle  pigmentation 
     renal/urinary system  skeleton  vision/eye 

    Find genes that share phenotypes with CTNS           About GenesLikeMe

    Animal Models:
       genOway: Develop your customized and physiologically relevant rodent model for CTNS

    miRNA
    Products:
        
    miRTarBase miRNAs that target CTNS:
    hsa-mir-26b-5p (MIRT029732), hsa-mir-320a (MIRT044666), hsa-mir-124-3p (MIRT022765)

    Block miRNA regulation of human, mouse, rat CTNS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTNS (see all 44):
    hsa-miR-328 hsa-miR-3194-5p hsa-let-7d hsa-miR-330-5p hsa-miR-1224-3p hsa-let-7g hsa-miR-124 hsa-miR-629
    SwitchGear 3'UTR luciferase reporter plasmidCTNS 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CTNS
    Predesigned siRNA for gene silencing in human, mouse, rat CTNS

    Gene Editing
    Products:
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    Clone
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    OriGene clones in human, mouse for CTNS (see all 11)
    OriGene ORF clones in mouse, rat for CTNS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CTNS (NM_004937)
    Browse Sino Biological Human cDNA Clones
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTNS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTNS

    Cell Line
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    GenScript Custom overexpressing Cell Line Services for CTNS
    Browse ESI BIO Cell Lines and PureStem Progenitors for CTNS 
    In Situ Assay
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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTNS


    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    CTNS_HUMAN, O60931: Lysosome membrane; Multi-pass membrane protein
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    endosome5
    lysosome5
    plasma membrane5
    vacuole5
    cytoskeleton1
    nucleus1

    Gene Ontology (GO): Selected cellular component terms (see all 9):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005764lysosome IDA11855931
    GO:0005765lysosomal membrane NAS9537412
    GO:0005769NOT early endosome IDA11150305
    GO:0005770late endosome IDA15128704
    GO:0005886plasma membrane IDA18337546

    Find genes that share ontologies with CTNS           About GenesLikeMe


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for CTNS About    
    See pathways by source

    SuperPathContained pathways About
    1Lysosome
    Lysosome


    Find genes that share SuperPaths with CTNS           About GenesLikeMe

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways



    1 Kegg Pathway  (Kegg details for CTNS):
        Lysosome

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CTNS
    Interactions:

        Search GeneGlobe Interaction Network for CTNS

    STRING Interaction Network Preview (showing 5 interactants - click image to see 7)

    Selected Interacting proteins for CTNS (ENSP000003712944) via UniProtKB, MINT, STRING, and/or I2D (see all 7)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    ENSG00000227317ENSP000004031544STRING: ENSP00000403154
    PHTF1ENSP000003586174STRING: ENSP00000358617
    PARLENSP000003254214STRING: ENSP00000325421
    RHBDF1ENSP000002623164STRING: ENSP00000262316
    RHBDF2ENSP000003227754STRING: ENSP00000322775
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0006520cellular amino acid metabolic process NAS9537412
    GO:0006749glutathione metabolic process IMP15956064
    GO:0007420brain development IMP17471495
    GO:0007616long-term memory IEA--
    GO:0007625grooming behavior IEA--

    Find genes that share ontologies with CTNS           About GenesLikeMe



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for CTNS

    1 HMDB Compound for CTNS    About this table
    CompoundSynonyms CAS #PubMed Ids
    L-Cystine(-)-Cystine (see all 31)56-89-3--

    1 DrugBank Compound for CTNS    About this table
    CompoundSynonyms CAS #TypeActionsPubMed Ids
    L-Cystine(-)-Cystine (see all 5)56-89-3target--11689434

    2 Novoseek inferred chemical compound relationships for CTNS gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystine 92.9 42 12825071 (1), 10571941 (1), 11855931 (1), 12442267 (1) (see all 29)
    sialic acid 20.4 1 11588980 (1)



    Find genes that share compounds with CTNS           About GenesLikeMe



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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    REFSEQ mRNAs for CTNS gene (2 alternative transcripts): 
    NM_001031681.2  NM_004937.2  

    Unigene Cluster for CTNS:

    Cystinosin, lysosomal cystine transporter
    Hs.187667  [show with all ESTs]
    Unigene Representative Sequence: NM_004937
    12 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000046640(uc002fwa.3 uc002fwb.3 uc010ckj.3 uc010vrv.2 uc010vrw.2)
    ENST00000381870 ENST00000452111 ENST00000574776 ENST00000495445 ENST00000467663
    ENST00000488623 ENST00000574218 ENST00000399306 ENST00000576979 ENST00000441220
    ENST00000414524
    miRNA
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    Block miRNA regulation of human, mouse, rat CTNS using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CTNS (see all 44):
    hsa-miR-328 hsa-miR-3194-5p hsa-let-7d hsa-miR-330-5p hsa-miR-1224-3p hsa-let-7g hsa-miR-124 hsa-miR-629
    SwitchGear 3'UTR luciferase reporter plasmidCTNS 3' UTR sequence
    Inhib. RNA
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    OriGene RNAi products in human, mouse, rat for CTNS
    Predesigned siRNA for gene silencing in human, mouse, rat CTNS
    Clone
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    OriGene clones in human, mouse for CTNS (see all 11)
    OriGene ORF clones in mouse, rat for CTNS
    OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
    GenScript: all cDNA clones in your preferred vector (see all 2): CTNS (NM_004937)
    DNA2.0 Custom Codon Optimized Gene Synthesis Service for CTNS
    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CTNS
    Primer
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    OriGene qPCR primer pairs and template standards for CTNS
    OriGene qSTAR qPCR primer pairs in human, mouse for CTNS
    Pre-validated RT2 qPCR Primer Assay in human, mouse, rat CTNS
      QuantiTect SYBR Green Assays in human, mouse, rat CTNS
      QuantiFast Probe-based Assays in human, mouse, rat CTNS

    Additional mRNA sequence: 

    AJ222967.1 AK292019.1 AK296178.1 AK297525.1 AK309044.1 AK309651.1 BC032850.2 CR542058.1 

    13 DOTS entries:

    DT.100762721  DT.100762718  DT.312895  DT.100762723  DT.120962986  DT.120963023  DT.92425711  DT.95217589 
    DT.446099  DT.97796757  DT.100872453  DT.120962969  DT.92425709 

    Selected AceView cDNA sequences (see all 119):

    CR590621 BM552273 AI695955 CR542058 BX391926 AI382549 CD251259 AI140323 
    CR599302 BF222479 BE503305 CR595952 CA454595 BG392867 BM924647 BI463989 
    BG252526 CD368296 AI651693 AL549085 CK299147 AL559174 AA608777 AW028514 

    GeneLoc Exon Structure

    Selected Alternative Splicing Database (ASD) splice patterns (SP) for CTNS (see all 7)    About this scheme

    ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
    SP1:        -     -     -     -     -                       -                                                               
    SP2:                                -                       -                                                               
    SP3:                                -           -           -                                                               
    SP4:                                -                       -     -                                                         
    SP5:                                                        -                                                               


    ECgene alternative splicing isoforms for CTNS

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    CTNS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: ACTTGAGCTT
    CTNS Expression
    About this image


    CTNS expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 2) fully expand
     
     Heart (Cardiovascular System)    fully expand to see all 2 entries
             Atrioventricular Canal Cells Atrioventricular Canal
             Outflow Tract
     
     Inner Cell Mass (Early Embryonic Tissues)    fully expand to see all 2 entries
             Line H9 (Naive)
    CTNS Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CTNS Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.187667

    UniProtKB/Swiss-Prot: CTNS_HUMAN, O60931
    Tissue specificity: Strongly expressed in pancreas, kidney (adult and fetal) and in skeletal muscle. Expressed at
    lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal)

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTNS

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTNS gene from Selected species (see all 18)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Ctns1 , 5 cystinosis, nephropathic1, 5 83.24(n)1
    83.98(a)1
      11 (45.25 cM)5
    834291  NM_031251.41  NP_112541.11 
     731835965 
    chicken
    (Gallus gallus)
    Aves CTNS1 cystinosin, lysosomal cystine transporter 67.84(n)
    70.59(a)
      417606  XM_415851.4  XP_415851.1 
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia Str.57352 Transcribed sequence with weak similarity to protein more 73.88(n)    BQ525601.1 
    zebrafish
    (Danio rerio)
    Actinopterygii Dr.160732 Transcribed sequence with weak similarity to protein more 73.1(n)    BM573779.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG171191 , 3 cystine transport cystine transporter3
    CG171191
    49(a)3
    55.86(n)1
    49.66(a)1
      94D103
    427231  NM_142859.31  NP_651116.11 
    worm
    (Caenorhabditis elegans)
    Secernentea ctns-11 ctns-1 51.37(n)
    47.54(a)
      174308  NM_063303.4  NP_495704.1 
    baker's yeast
    (Saccharomyces cerevisiae)
    Saccharomycetes ERS1(YCR075C)4 Protein with similarity to human cystinosin, which more   --   3(248815-248033) 850438  NP_010000.1 
    thale cress
    (Arabidopsis thaliana)
    eudicotyledons AT5G406701 AT5G40670 51.84(n)
    45.67(a)
      834067  NM_123432.3  NP_198883.1 
    rice
    (Oryza sativa)
    Liliopsida Os12g02787001 Os12g0278700 51.36(n)
    45.12(a)
      4351977  NM_001073100.1  NP_001066568.1 


    ENSEMBL Gene Tree for CTNS (if available)
    TreeFam Gene Tree for CTNS (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for CTNS (see all 950)    About this table                                 

    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0106984
    Cystinosis, nephropathic type (CTNS)4--see VAR_0106982 D N mis40--------
    VAR_0106904
    Cystinosis, nephropathic type (CTNS)4--see VAR_0106902 D G mis40--------
    VAR_0106824
    Cystinosis, adult, non-nephropathic type (CTNSANN)4--see VAR_0106822 G R mis40--------
    VAR_0106804
    Cystinosis, nephropathic type (CTNS)4--see VAR_0106802 L P mis40--------
    VAR_0373194
    Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN)4--see VAR_0373192 N T mis40--------
    VAR_0102864
    Cystinosis, nephropathic type (CTNS)4--see VAR_0102862 G D mis40--------
    VAR_0674944
    Cystinosis, nephropathic type (CTNS)4--see VAR_0674942 M I mis40--------
    VAR_0106944
    Cystinosis, nephropathic type (CTNS)4--see VAR_0106942 L P mis40--------
    VAR_0674954
    Cystinosis, nephropathic type (CTNS)4--see VAR_0674952 G V mis40--------
    VAR_0106954
    Cystinosis, nephropathic type (CTNS)4--see VAR_0106952 G R mis40--------

    HapMap Linkage Disequilibrium report for CTNS (3539762 - 3566397 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 7 variations for CTNS:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv2662762CNV Deletion23128226
    nsv1947CNV Insertion18451855
    nsv833342CNV Loss17160897
    nsv907569CNV Loss21882294
    dgv358n27CNV Loss19166990
    nsv907565CNV Loss21882294
    nsv516676CNV Gain+Loss19592680

    Human Gene Mutation Database (HGMD): CTNS
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CTNS
    DNA2.0 Custom Variant and Variant Library Synthesis for CTNS

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
    About This Section

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    OMIM gene information: 606272   
    OMIM disorders: 219800  219750  219900  
    UniProtKB/Swiss-Prot: CTNS_HUMAN, O60931
  • Cystinosis, nephropathic type (CTNS) [MIM:219800]: A form of cystinosis, a lysosomal storage disease due
    to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and
    crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the
    first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay,
    generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations,
    renal failure, ocular symptoms and other systemic complications. Note=The disease is caused by mutations
    affecting the gene represented in this entry
  • Cystinosis, adult, non-nephropathic type (CTNSANN) [MIM:219750]: A form of cystinosis, a lysosomal
    storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine
    accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic
    type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to
    conjunctival and corneal cystine crystals. Note=The disease is caused by mutations affecting the gene represented
    in this entry
  • Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]: A form of
    cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This
    results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset
    juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years
    with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first
    in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development
    of pigmentary retinopathy, and chronic headaches are features. Note=The disease is caused by mutations affecting
    the gene represented in this entry

  • 7 diseases for CTNS:    
    About MalaCards
    intermediate cystinosis    cystinosis, atypical nephropathic    cystinosis, ocular nonnephropathic    cystinosis, late-onset juvenile or adolescent nephropathic
    nephropathic cystinosis    cystinosis    fanconi syndrome

    3 diseases from the University of Copenhagen DISEASES database for CTNS:
    Cystinosis     Fanconi syndrome     Autosomal recessive disease

    Find genes that share disorders with CTNS           About GenesLikeMe

    5 Novoseek inferred disease relationships for CTNS gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    cystinosis 98.5 63 10571941 (3), 10673275 (2), 11121245 (2), 12442267 (2) (see all 36)
    cystinosis, nephropathic 97.8 20 18752449 (2), 10625078 (2), 20352457 (2), 10673275 (1) (see all 16)
    cystinosis, intermediate 95.6 2 10571941 (1), 10444339 (1)
    lysosomal storage diseases 70.5 3 10571941 (1), 15500372 (1), 15365816 (1)
    renal disease 25.9 1 10571941 (1)

    Genatlas disease: CTNS
    cystinosis,infantile,nephropathic type

    GeneTests: CTNS
    GeneReviews: CTNS
    Genetic Association Database (GAD): CTNS
    Human Genome Epidemiology (HuGE) Navigator: CTNS (1 document)

    Export disorders for CTNS gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for CTNS gene, integrated from 10 sources (see all 84):
    (articles sorted by number of sources associating them with CTNS)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. (PubMed id 9537412)1, 2, 3, 9 Town M....Antignac C. (Nat. Genet. 1998)
    2. 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. (PubMed id 10673275)1, 2, 9 Touchman J.W....Green E.D. (Genome Res. 2000)
    3. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: predicted effect on the model of cystinosin. (PubMed id 10556299)1, 2, 9 Attard M.... Town M. (Hum. Mol. Genet. 1999)
    4. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. (PubMed id 15128704)1, 3, 9 Kalatzis V....Antignac C. (Hum. Mol. Genet. 2004)
    5. CTNS mutations in patients with cystinosis. (PubMed id 10571941)1, 2, 9 Anikster Y.... Gahl W.A. (Hum. Mutat. 1999)
    6. Characterization of CTNS mutations in Arab patients with cystinosis. (PubMed id 19852576)1, 2, 9 Aldahmesh M.A.... Alkuraya F.S. (Ophthalmic Genet. 2009)
    7. Analysis of the CTNS gene in patients of German and Swiss origin with nephropathic cystinosis. (PubMed id 12204010)1, 2, 9 Kiehntopf M.... Harms E. (Hum. Mutat. 2002)
    8. Identification of 14 novel CTNS mutations and characterization of seven splice site mutations associated with cystinosis. (PubMed id 12442267)1, 2, 9 Kalatzis V.... Antignac C. (Hum. Mutat. 2002)
    9. CTNS mutations in an American-based population of cystinosis patients. (PubMed id 9792862)1, 2, 9 Shotelersuk V.... Gahl W.A. (Am. J. Hum. Genet. 1998)
    10. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). (PubMed id 10068513)1, 2, 9 Anikster Y.... Gahl W.A. (Mol. Genet. Metab. 1999)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    Free Text  

      Query String
    PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section

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    Entrez Gene: 1497 HGNC: 2518 AceView: CTNS Ensembl:ENSG00000040531 euGenes: HUgn1497
    ECgene: CTNS Kegg: 1497 H-InvDB: CTNS

    (According to HUGE)
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      --

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
    About This Section

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    NameDescription
    PharmGKB entry for CTNS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/books/NBK1116/?term=CTNS[genesymbol]

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

    TryGeneCards Plus
    Patent Information for CTNS gene:
    Search GeneIP for patents involving CTNS

    GeneCards and IP:
    Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



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