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Cancer Genome Characterization Initiative

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Gene Info

Gene Information For:Hs. CTNS, cystinosin, lysosomal cystine transporter
Sequence ID:NM_001031681
NM_004937
RefSeqGene ID:NG_012489
Entrez Gene ID:1497
Ensembl ID:ENSG00000040531

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data


Associated Diseases (from OMIM)

DiseaseOther Genes
CYSTINOSIS, LATE-ONSET JUVENILE OR ADOLESCENT NEPHROPATHIC 
CYSTINOSIS, NEPHROPATHIC 
CYSTINOSIS, OCULARNONNEPHROPATHIC 

Cytogenetic Location (from UniGene)

Cytogenetic Location:17p13Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:17: 3540015 - 3564832

 Exon Info From UCSC:
NM_001031681
NM_004937

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
5268683Full LengthBC032850cystinosis, nephropathic

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_004928  

Protein Infomation

RefSeq
mRNAProteinSwissProtPfam
NM_001031681 NP_001026851    
NM_004937 NP_004928 O60931 PQ-loop

Related Sequences

 
mRNAGenPeptSwissProt
BC032850 AAH32850 O60931
JF432879 ADZ16096  
AK292019 BAF84708 O60931
AK296178 BAG58913 B4DJQ1
AK297525 BAG59928 B4DML6
AJ222967 CAA11021 O60931
CR542058 CAG46855 Q6FGP9

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens CTNS NP_001026851 M.musculus Ctns 83429 Gene Info NP_112541 84
R.norvegicus Ctns 287478   XP_220649 82
D.melanogaster CG17119 42723   NP_651116 50
C.elegans ctns-1 174308   NP_872022 48
A.thaliana AT5G40670 834067   NP_198883 46
N.crassa NCU01250 3876801   XP_960653 40

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)