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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

Gene Tree: Ctns

Human
homologs
Human Homolog CTNS, cystinosin, lysosomal cystine transporter
NCBI Gene ID 1497
neXtProt AC  NX_O60931
Human Synonyms  CTNS-LSB, PQLC4
Human Chr (Location)  17p13; chr17:3636468-3663103 (+)  GRCh38
Disease Associations  (3) Diseases Associated with Human CTNS
Mutations,
alleles, and
phenotypes
All mutations/alleles(2) : Targeted(2)
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 Using Mouse Ctns (1)    Alleles 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)
External Resources: Allen Institute   GEO   Expression Atlas
Molecular
reagents
All nucleic(36) cDNA(35) Primer pair(1)
Microarray probesets(3)
Other database
links
VEGA Gene ModelOTTMUSG00000006124 (Evidence)
Ensembl Gene ModelENSMUSG00000005949 (Evidence)
Entrez Gene83429 (Evidence)
UniGene259852
DFCITC1576609
DoTSDT.101378981, DT.486665
NIA Mouse Gene IndexU033038
Consensus CDS ProjectCCDS25001.1
International Mouse Knockout Project StatusCtns
Sequences
Representative SequencesLengthStrain/SpeciesFlank
genomic OTTMUSG00000006124 VEGA Gene Model | MGI Sequence Detail 15447 C57BL/6J ±  kb
transcript OTTMUST00000013847 VEGA | MGI Sequence Detail 2723 Not Applicable 
polypeptide OTTMUSP00000006425 VEGA | MGI Sequence Detail 367 Not Applicable 

For the selected sequences
All sequences(64) RefSeq(26) UniProt(5)
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:209075 Raggi C, et al., Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis. Hum Mol Genet. 2014 May 1;23(9):2266-78
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
Citing These Resources
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last database update
10/21/2014
MGI 5.20
The Jackson Laboratory