Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CTNS (cystinosin, lysosomal cystine transporter)

Identity

Alias_namescystinosis, nephropathic
Alias_symbol (synonym)CTNS-LSB
PQLC4
Other alias
HGNC (Hugo) CTNS
LocusID (NCBI) 1497
Atlas_Id 62185
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 3539762 and ends at 3566397 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CTNS (17p13.2) / KAT6A (8p11.21)CTNS (17p13.2) / RPSA (3p22.1)IFI6 (1p36.11) / CTNS (17p13.2)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CTNS   2518
Cards
Entrez_Gene (NCBI)CTNS  1497  cystinosin, lysosomal cystine transporter
AliasesCTNS-LSB; PQLC4
GeneCards (Weizmann)CTNS
Ensembl hg19 (Hinxton)ENSG00000040531 [Gene_View]  chr17:3539762-3566397 [Contig_View]  CTNS [Vega]
Ensembl hg38 (Hinxton)ENSG00000040531 [Gene_View]  chr17:3539762-3566397 [Contig_View]  CTNS [Vega]
ICGC DataPortalENSG00000040531
TCGA cBioPortalCTNS
AceView (NCBI)CTNS
Genatlas (Paris)CTNS
WikiGenes1497
SOURCE (Princeton)CTNS
Genetics Home Reference (NIH)CTNS
Genomic and cartography
GoldenPath hg19 (UCSC)CTNS  -     chr17:3539762-3566397 +  17p13.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CTNS  -     17p13.2   [Description]    (hg38-Dec_2013)
EnsemblCTNS - 17p13.2 [CytoView hg19]  CTNS - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBICTNS [Mapview hg19]  CTNS [Mapview hg38]
OMIM219750   219800   219900   606272   
Gene and transcription
Genbank (Entrez)AJ222967 AK292019 AK296178 AK297525 AK309044
RefSeq transcript (Entrez)NM_001031681 NM_004937
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_012489 NT_010718 NW_004929405
Consensus coding sequences : CCDS (NCBI)CTNS
Cluster EST : UnigeneHs.187667 [ NCBI ]
CGAP (NCI)Hs.187667
Alternative Splicing GalleryENSG00000040531
Gene ExpressionCTNS [ NCBI-GEO ]   CTNS [ EBI - ARRAY_EXPRESS ]   CTNS [ SEEK ]   CTNS [ MEM ]
Gene Expression Viewer (FireBrowse)CTNS [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1497
GTEX Portal (Tissue expression)CTNS
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60931   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO60931  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60931
Splice isoforms : SwissVarO60931
PhosPhoSitePlusO60931
Domains : Interpro (EBI)LC_transporter    PQ-loop_rpt   
Domain families : Pfam (Sanger)PQ-loop (PF04193)   
Domain families : Pfam (NCBI)pfam04193   
Domain families : Smart (EMBL)CTNS (SM00679)  
Conserved Domain (NCBI)CTNS
DMDM Disease mutations1497
Blocks (Seattle)CTNS
SuperfamilyO60931
Human Protein AtlasENSG00000040531
Peptide AtlasO60931
HPRD05885
IPIIPI00644266   IPI00412430   IPI01009801   IPI01012372   IPI00921126   IPI00879088   IPI00879262   
Protein Interaction databases
DIP (DOE-UCLA)O60931
IntAct (EBI)O60931
FunCoupENSG00000040531
BioGRIDCTNS
STRING (EMBL)CTNS
ZODIACCTNS
Ontologies - Pathways
QuickGOO60931
Ontology : AmiGOlens development in camera-type eye  lysosome  lysosomal membrane  lysosomal membrane  lysosomal membrane  early endosome  late endosome  plasma membrane  plasma membrane  cellular amino acid metabolic process  glutathione metabolic process  ion transport  brain development  long-term memory  grooming behavior  adult walking behavior  visual learning  L-cystine transmembrane transporter activity  L-cystine transmembrane transporter activity  L-cystine transport  L-cystine transport  L-cystine transport  integral component of membrane  melanin biosynthetic process  melanosome  intracellular membrane-bounded organelle  intermediate filament cytoskeleton  ATP metabolic process  cognition  transmembrane transport  extracellular exosome  
Ontology : EGO-EBIlens development in camera-type eye  lysosome  lysosomal membrane  lysosomal membrane  lysosomal membrane  early endosome  late endosome  plasma membrane  plasma membrane  cellular amino acid metabolic process  glutathione metabolic process  ion transport  brain development  long-term memory  grooming behavior  adult walking behavior  visual learning  L-cystine transmembrane transporter activity  L-cystine transmembrane transporter activity  L-cystine transport  L-cystine transport  L-cystine transport  integral component of membrane  melanin biosynthetic process  melanosome  intracellular membrane-bounded organelle  intermediate filament cytoskeleton  ATP metabolic process  cognition  transmembrane transport  extracellular exosome  
Pathways : KEGGLysosome   
NDEx NetworkCTNS
Atlas of Cancer Signalling NetworkCTNS
Wikipedia pathwaysCTNS
Orthology - Evolution
OrthoDB1497
GeneTree (enSembl)ENSG00000040531
Phylogenetic Trees/Animal Genes : TreeFamCTNS
HOVERGENO60931
HOGENOMO60931
Homologs : HomoloGeneCTNS
Homology/Alignments : Family Browser (UCSC)CTNS
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCTNS [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CTNS
dbVarCTNS
ClinVarCTNS
1000_GenomesCTNS 
Exome Variant ServerCTNS
ExAC (Exome Aggregation Consortium)CTNS (select the gene name)
Genetic variants : HAPMAP1497
Genomic Variants (DGV)CTNS [DGVbeta]
DECIPHER (Syndromes)17:3539762-3566397  ENSG00000040531
CONAN: Copy Number AnalysisCTNS 
Mutations
ICGC Data PortalCTNS 
TCGA Data PortalCTNS 
Broad Tumor PortalCTNS
OASIS PortalCTNS [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCTNS  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCTNS
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
LOVD (Leiden Open Variation Database)Mendelian genes
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CTNS
DgiDB (Drug Gene Interaction Database)CTNS
DoCM (Curated mutations)CTNS (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CTNS (select a term)
intoGenCTNS
Cancer3DCTNS(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM219750    219800    219900    606272   
Orphanet23023    23025    23024   
MedgenCTNS
Genetic Testing Registry CTNS
NextProtO60931 [Medical]
TSGene1497
GENETestsCTNS
Huge Navigator CTNS [HugePedia]
snp3D : Map Gene to Disease1497
BioCentury BCIQCTNS
ClinGenCTNS
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1497
Chemical/Pharm GKB GenePA27019
Clinical trialCTNS
Miscellaneous
canSAR (ICR)CTNS (select the gene name)
Probes
Litterature
PubMed48 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCTNS
EVEXCTNS
GoPubMedCTNS
iHOPCTNS
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:00:40 CET 2017

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