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Ctns
Gene Detail
Symbol

Name
ID
Ctns
cystinosis, nephropathic
MGI:1932872
Feature Type
protein coding gene
Genetic Map
Chromosome 11
45.25 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)
Sequence Map
Chr11:73183596-73199042 bp, - strand
From VEGA annotation of GRCm38

  15447 bp   ±  kb flank

VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer


Mouse Genome Browser
Vertebrate
homology
HomoloGene:3625  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog; 1 chicken; 1 western clawed frog; 1 zebrafish

HCOP human homology predictions: CTNS
Gene Tree: Ctns

Human
homologs
CTNS, cystinosin, lysosomal cystine transporter
Orthology source: HGNC, HomoloGene

IDs:
NCBI Gene ID: 1497
neXtProt AC: NX_O60931

Human Synonyms: CTNS-LSB, PQLC4

Human Chr (Location): 17p13; chr17:3636468-3663103 (+)  GRCh38.p2

Disease Associations: (3) Diseases Associated with Human CTNS

Mutations,
alleles, and
phenotypes
All mutations/alleles(3) : Targeted(3)
Genomic Mutations involving Ctns (1)
Incidental mutations (data from Mutagenetix , APF )
 
Homozygotes for a targeted null mutation exhibit increased intracellular cystine, progressive accumulation of cystine crystals, occasional muscle impairment, reduced exploratory activity, osteoporosis, and lowered electroretinogram amplitude.
 
Human Diseases Modeled in Mice Using Ctns (1)    Mutations Annotated to Human Diseases (1)   
Interactions
Ctns interacts with 244 markers (Mir7-1, Mir7-2, Mir7b, ...)
Gene Ontology
(GO)
classifications
Expression
cDNA source data(33)
Other mouse links: Allen Institute   GEO   Expression Atlas
Other vertebrate links: Xenbase ctns    NEW 
Molecular
reagents
All nucleic(36) cDNA(35) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene Model OTTMUSG00000006124 (Evidence)
Ensembl Gene Model ENSMUSG00000005949 (Evidence)
Entrez Gene 83429 (Evidence)
UniGene 259852
DFCI TC1576609
DoTS DT.101378981, DT.486665
NIA Mouse Gene Index U033038
Consensus CDS Project CCDS25001.1
International Mouse Phenotyping Consortium Status Ctns
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006124 VEGA Gene Model | MGI Sequence Detail 15447 C57BL/6J ±  kb
transcript OTTMUST00000013846 VEGA | MGI Sequence Detail 2570 Not Applicable 
polypeptide OTTMUSP00000006424 VEGA | MGI Sequence Detail 367 Not Applicable 

For the selected sequences
All sequences(66) RefSeq(30) UniProt(3)
Polymorphisms
SNPs within 2kb(183 from dbSNP Build 137)
Protein-related
information
ResourceIDDescription
InterPro IPR006603 Cystinosin/ERS1p repeat
InterPro IPR005282 Lysosomal cystine transporter
Protein Ontology PR:000006014 cystinosin
References
(Earliest) J:66375 Cherqui S, et al., Identification and characterisation of the murine homologue of the gene responsible for cystinosis, Ctns. BMC Genomics. 2000;1(1):2
(Latest) J:214979 Sutter I, et al., Apolipoprotein M modulates erythrocyte efflux and tubular reabsorption of sphingosine-1-phosphate. J Lipid Res. 2014 Jun 20;55(8):1730-1737
All references(36)
Disease annotation references (2)
Other
accession IDs
MGI:2144084, MGI:2144487

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
08/18/2015
MGI 6.0
The Jackson Laboratory