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Category   Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21
GIFtS

CTNS Gene

protein-coding   GIFtS: 62
GCID: GC17P003486

cystinosin, lysosomal cystine transporter

(Previous names: cystinosis, nephropathic )
 Explore 16 diseases affiliated with
CTNS via
MalaCards
our new
 Human Malady Compendium 
Biological research products
for CTNS    

Aliases
for CTNS gene

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, and/or 10fRNAdb)
About This Section
Aliases
Cystinosin, Lysosomal Cystine Transporter1 2
CTNS-LSB1 2
PQLC41 2
Cystinosis, Nephropathic1
Cystinosin1

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 GC17P003431


Summaries
for CTNS gene

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section
Entrez Gene summary for CTNS:
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)

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

Gene Wiki entry for CTNS


Genomic Views
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 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section
RefSeq DNA sequence:
NC_000017.10  NC_018928.1  NT_010718.16  
Regulatory elements:
   SABiosciences 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 plasmid: CTNS promoter sequence
   Search SABiosciences Chromatin IP Primers for CTNS

Epigenetics:
QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays 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 GC17P003486:  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

Proteins
for CTNS gene

(According to 1UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to 2PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, 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, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section
UniProtKB/Swiss-Prot: CTNS_HUMAN, O60931 (See protein sequence)
Recommended Name: Cystinosin  
Size: 367 amino acids; 41738 Da
Subcellular location: Lysosome membrane; Multi-pass membrane protein
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

Post-translational modifications:

  • View modification sites using PhosphoSitePlus2
  • View neXtProt modification sites for NX_O60931

    • CTNS Protein expression data from MOPED and PaxDb:    About this image 
    Estimated protein expression log10 (pmol).

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

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

    Human Recombinant Protein Products: 
    Browse Purified and Recombinant Proteins at EMD Millipore
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    Browse OriGene full length recombinant human proteins expressed in human HEK293 cells
    OriGene Protein Over-expression Lysate (see all 3): CTNS
    OriGene Custom Protein Services for CTNS 
    GenScript Custom Purified and Recombinant Proteins Services for CTNS
    Novus Biologicals CTNS Proteins
    Novus Biologicals CTNS Lysates
    Browse Sino Biological Recombinant Proteins
    Browse ProSpec Recombinant Proteins
    Uscn Proteins for CTNS

    Gene Ontology (GO): 5/6 cellular component terms (GO ID links to tree view) (see all 6):    About this table

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


    CTNS for ontologies           About GeneDecksing



    CTNS Antibody Products: 
    EMD Millipore Mono- and Polyclonal Antibodies for the study of CTNS
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    OriGene Custom Antibody Services for CTNS 
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    Novus Biologicals CTNS Antibodies
    Search for Antibodies for CTNS at Abcam  
    Uscn Antibodies for CTNS
    Search ThermoFisher Antibodies for CTNS

    Assay Products for CTNS: 
    Browse Kits and Assays available from EMD Millipore
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    Browse OriGene Fluorogenic Cell Assay Kits
    Browse R&D Systems for biochemical assays
    GenScript Custom Assay Services for CTNS
    Browse Enzo Life Sciences for kits & assays
    Uscn ELISAs and CLIAs for CTNS

    Protein Domains /
    Families
    for CTNS gene

    (According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
    About This Section
    CTNS for domains           About GeneDecksing

    2 InterPro domains/families:
     IPR005282 LC_transporter
     IPR006603 CTNS

    Graphical View of Domain Structure for InterPro Entry O60931

    ProtoNet protein and cluster: O60931

    1 Blocks protein family: IPB006603 Cystinosin/ERS1p repeat

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


    Function
    for CTNS gene

    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013,
    bound targets from SABiosciences, miRNA Gene Targets from miRTarBase shRNA from OriGene, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
    About This Section
    Function Summary:

         UniProtKB/Swiss-Prot: 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

    miRNA
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    Browse MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTNS
    8/44 QIAGEN miScript miRNA 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 plasmid: CTNS 3' UTR sequence
    Inhib. RNA
    Products:            		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTNS (see all 4)
    OriGene shRNA RFP: CTNS
    OriGene siRNA: CTNS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTNS

    Gene Editing
    Products:    		DNA2.0 Custom Protein Engineering Service for CTNS

    Clone
    Products:             		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
    OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for CTNS (see all 3)
    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTNS (see all 2)
    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
    Products:             		GenScript Custom overexpressing Cell Line Services for CTNS
    Search LifeMap BioReagents cell lines for CTNS

    In Situ Assay
    Products:       
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTNS

    Gene Ontology (GO): 1 molecular function term (GO ID links to tree view):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0015184L-cystine transmembrane transporter activity NAS9537412


    CTNS for ontologies           About GeneDecksing


    1 GenomeRNAi human phenotype for CTNS:
     Synthetic lethal with Ras 

    Animal Models:
         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 

    CTNS for phenotypes           About GeneDecksing


    Pathways & Interactions
    for CTNS gene

    (Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, 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 Mar 2013 via Entrez Gene).
    About This Section

    Unified GeneCards pathways  About this table 
    See pathways by source

    Super-pathwaycontained gene-specific pathways
    1Lysosome
    		Lysosome1.00

    Pathway sources
    See GeneCards unified pathways
    Show all pathways



    1         Kegg Pathway  (Kegg details for CTNS):
        Lysosome


    CTNS for pathways           About GeneDecksing

    Interactions:

        Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for CTNS

    STRING Interaction Network Preview (showing 4 interactants - click image to see more details)

    4 Interacting proteins for CTNS (ENSP000003712944) via UniProtKB, MINT, STRING, and/or I2D
    InteractantInteraction Details
    GeneCardExternal ID(s)
    PHTF1ENSP000003586174STRING: ENSP00000358617
    --ENSP000004033774STRING: ENSP00000403377
    --ENSP000004031544STRING: ENSP00000403154
    --ENSP000003728604STRING: ENSP00000372860
    About this table

    Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (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--


    CTNS for ontologies           About GeneDecksing



    Drugs & Compounds
    for CTNS gene

    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
    About This Section

    CTNS for compounds           About GeneDecksing

    Browse Small Molecules at EMD Millipore
    Browse drugs & compounds from Enzo Life Sciences

    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 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)

    Search CenterWatch for drugs/clinical trials and news about CTNS 

    Transcripts
    for CTNS gene

    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 235 Homo sapiens; Mar 10 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,
    RNAi Products from EMD Millipore,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
    Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
    About This Section
    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
    Products:             		 OriGene 3'-UTR Clone (see all 2): CTNS
    Browse OriGene MicroRNA Expression Plasmids
    QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat CTNS
    8/44 QIAGEN miScript miRNA 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 plasmid: CTNS 3' UTR sequence
    Inhib. RNA
    Products:             		Browse for Gene Knock-down Tools from EMD Millipore
    OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CTNS (see all 4)
    OriGene shRNA RFP: CTNS
    OriGene siRNA: CTNS
    QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat CTNS
    Clone
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    OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for CTNS (see all 2)
    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
    Products:            		 OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CTNS
    Browse OriGene validated miRNA SYBR primer pairs
    SABiosciences RT2 qPCR Primer Assay in human, mouse, rat CTNS
      QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat CTNS
      QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTNS

    Additional cDNA 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 

    24/119 AceView cDNA sequences (see all 119):

    BF222479 CD251259 BX391926 CR542058 AI695955 CR590621 AI382549 CR595952 
    BE503305 BM552273 AI140323 CR599302 CA454595 BU624865 N24910 AW028514 
    AL578622 AI696058 BX369529 AL580709 AA608777 BG392867 BQ639383 AL559174 

    GeneLoc Exon Structure

    5/7 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

    Expression
    for CTNS gene

    (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™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
    About This Section

    CTNS expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS
    CGAP TAG: ACTTGAGCTT

    Microarray
    RNAseq (Illumina Body Map)
    (100×FPKM)½
    SAGE (Serial Analysis of Gene Expression)
    About this image

    CTNS expression in embryonic tissues and stem cells
    Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine    About this table
    2 LifeMap In Vivo Development Anatomical Compartments/Cells 
    Tissue Anatomical Compartment CellCategory (developmental path)
    HeartAtrioventricular CanalAtrioventricular Canal CellsMyocardium
    HeartOutflow TractHeart
    Expression: Positive    Negative     Selective marker
    Experimental details: Curated     Microarrays     In-situ hybridization

    See CTNS Protein Expression from SPIRE MOPED and PaxDB
    Genevestigator expression for CTNS

    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)

        SABiosciences Custom PCR Arrays for CTNS
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    QIAGEN QuantiFast Probe-based Assays in human, mouse, rat CTNS
    In Situ
    Assay Products:     
         		Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CTNS

    Orthologs
    for CTNS gene

    (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)
    About This Section
    This gene was present in the common ancestor of eukaryotes.

    Orthologs for CTNS gene from 8/26 species (see all 26)    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 68.05(n)
    71.22(a)    		   417606  XM_415851.3  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
    56.29(n)1
    50(a)1    		   94D103
    427231  NM_142859.21  NP_651116.11 
    worm
    (Caenorhabditis elegans)    		 Secernentea ctns-11 Protein CTNS-1 51.37(n)
    47.54(a)    		   174308  NM_182222.3  NP_872022.1 
    thale cress
    (Arabidopsis thaliana)    		 eudicotyledons AT5G406701 cystinosin 52.25(n)
    46.03(a)    		   834067  NM_123432.3  NP_198883.1 
    rice
    (Oryza sativa)    		 Liliopsida Os12g02787001 hypothetical protein 52.2(n)
    46.38(a)    		   4351977  NM_001073100.1  NP_001066568.1 


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

    Paralogs
    for CTNS gene

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

    Genomic Variants
    for CTNS gene

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, UniProtKB, 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) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
    About This Section

    10/694 NCBI SNPs in CTNS are shown (see all 694)     About this table
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance    		Chr 17 posSequence#AA
    Chg    		TypeMore#Allele
    freq    		PopTotal
    sample    		More
    ----------
    rs1139942051,2
    		Cpathogenic3450305(+) GCCTGG/ATCCAT 4 /* /W stg11Minor allele frequency- A:0.00NA 4552
    rs1139942061,2
    		C,pathogenic3451498(+) TGGTCC/TGAGCT 4 P L mis10--------
    rs1139942071,2
    		Cpathogenic3451703(+) CCAACA/GGAGTG 4 R G mis10--------
    rs1219081281,2
    		C,Fpathogenic3454973(+) AACAAC/G/TGGTGA 6 N K mis1 syn11NA 4512
    rs1219081271,2
    		Cpathogenic3455279(+) GACTCG/AGGGTC 4 /R /G mis11Minor allele frequency- A:0.00NA 4550
    rs169533411,2
    		C,F,H,--3429609(+) AACTGG/ACACTT 3 -- us2k1 int1 tfbs311Minor allele frequency- A:0.13NA NS EA WA 544
    rs1127867361,2
    		C,--3430125(+) CACTGC/TACTCC 3 -- us2k1 int11Minor allele frequency- T:0.50NA 2
    rs1117986501,2
    		C,--3430905(+) ACAGCC/TGCTGC 3 -- us2k1 int10--------
    rs778380641,2
    		C,F,--3431289(+) CCCAGG/TGGGGC 3 -- us2k1 ut511Minor allele frequency- T:0.09WA 118
    rs1115412741,2
    		C,F,--3431335(+) GCCACA/TCCCAA 3 -- us2k11Minor allele frequency- T:0.03WA 118

    HapMap Linkage Disequilibrium report for CTNS (3539762 - 3566397 bp)
    Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
    Database of Genomic Variants (DGV): 3 variations for CTNS
         3 CNVs: 53542 4982 49851
    Human Gene Mutation Database (HGMD): CTNS

    SABiosciences Cancer Mutation PCR Assays
    QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CTNS
    DNA2.0 Custom Variant and Variant Library Synthesis for CTNS

    Disorders / Diseases
    for CTNS gene

    (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
    CTNS for disorders           About GeneDecksing

    OMIM gene information: 606272   
    OMIM disorders: 219800  219750  219900  
    UniProtKB/Swiss-Prot: CTNS_HUMAN, O60931
  • Defects in CTNS are the cause of cystinosis nephropathic type (CTNS) [MIM:219800]. It is 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
  • Defects in CTNS are the cause of cystinosis adult non-nephropathic type (CTNSANN) [MIM:219750]. It is 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 benigne course. Patients manifest mild photophobia due
    to conjunctival and corneal cystine crystals
  • Defects in CTNS are the cause of cystinosis late-onset juvenile or adolescent nephropathic type (CTNSJAN)
    • [MIM:219900]. It is 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 manifests itself 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

    16 diseases for CTNS:    About MalaCards
    cystinosis    cystinosis, late-onset juvenile or adolescent nephropathic    cystinosis, ocular nonnephropathic    cystinosis, atypical nephropathic
    lysosomal storage disease    nephropathic cystinosis    intermediate cystinosis    pigmentary retinopathy
    interstitial nephritis    metabolic disorders    was-related disorders    headache
    fanconi syndrome    nephritis    cataract    hypertension

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

    5 Novoseek 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
    Cystinosis

    Human Genome Epidemiology (HuGE) Navigator: CTNS (1 document)

    Export disorders for CTNS gene to outside databases

    Publications
    for CTNS gene

    (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

    PubMed articles for CTNS gene, integrated from 9 sources (see all 82):
    (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. (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. (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. (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. (2004)
    5. CTNS mutations in patients with cystinosis. (PubMed id 10571941)1, 2, 9 Anikster Y.... Gahl W.A. (1999)
    6. Characterization of CTNS mutations in Arab patients w ith cystinosis. (PubMed id 19852576)1, 2, 9 Aldahmesh M.A....Alkuraya F.S. (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. (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. (2002)
    9. CTNS mutations in an American-based population of cystinosis patients. (PubMed id 9792862)1, 2, 9 Shotelersuk V.... Gahl W.A. (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. (1999)

    External Searches for CTNS gene

    (in PubMed, OMIM, and NCBI Bookshelf)
    About This Section
     ANDOR
    Aliases
    Disorders
    Free Text  
      Query String
    		PubMed
    OMIM
    NCBI Bookshelf
      (Note: In FireFox, select the above section and copy using Ctrl-C)

    Genome Databases showing CTNS gene

    (According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
    About This Section
    Entrez Gene: 1497 HGNC: 2518 AceView: CTNS Ensembl:ENSG00000040531 euGenes: HUgn1497
    ECgene: CTNS Kegg: 1497 H-InvDB: CTNS

    Other Databases showing CTNS gene

    (According to HUGE)
    About This Section
    		   --

    Specialized Databases showing CTNS gene

    (According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
    Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
    About This Section
    NameDescription
    PharmGKB entry for CTNS Pharmacogenomics, SNPs, Pathways
    GeneReviewshttp://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CTNS

    Intellectual Property
    for CTNS gene

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