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 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; chr17:3539762-3566397 (+)  GRCh37.p10
Disease Associations		(3) Diseases Associated with Human CTNS

Alleles and phenotypes

All alleles(2) : Targeted(2)
 

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)   

Gene Ontology (GO) classifications

All GO classifications: (28 annotations)

Process	adult walking behavior, amino acid transmembrane transport, ...
Component	integral to membrane, late endosome, ...
Function	L-cystine transmembrane transporter activity

This is a GO Consortium Reference Genome Project gene.
External Resources: FuncBase

Expression

cDNA source data(35)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(38) cDNA(37) 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 Knockout Project Status	Ctns

Sequences

Length	Strain/Species
genomic	OTTMUSG00000006124	VEGA Gene Model | MGI Sequence Detail	15447	C57BL/6J
transcript	OTTMUST00000013846	VEGA | MGI Sequence Detail	2570	Not Applicable
polypeptide	OTTMUSP00000006424	VEGA | MGI Sequence Detail	367	Not Applicable

All sequences(38) RefSeq(2) UniProt(3)

Polymorphisms

SNPs(143 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
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:179682 Simpson JL, et al., Evaluation of topical cysteamine therapy in the CTNS(-/-) knockout mouse using in vivo confocal microscopy. Mol Vis. 2011;17:2649-54
All references(33)

Other accession IDs

MGI:2144084, MGI:2144487