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Ctns Gene Detail
Summary
  • Symbol
    Ctns
  • Name
    cystinosis, nephropathic
  • Feature Type
    protein coding gene
  • IDs
    MGI:1932872
    NCBI Gene: 83429
  • Gene Overview
    MyGene.info: CTNS
Location & Maps
more
  • Sequence Map
    Chr11:73183596-73199042 bp, - strand
  • From VEGA annotation of GRCm38

    Mouse Genome Browser

  • Download
    Sequence
      15447 bp   ±  kb flank

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.25 cM
  • Mapping Data
    3 experiments
Homology
more
  • Human Ortholog
    CTNS, cystinosin, lysosomal cystine transporter
  • Vertebrate Orthologs
    10
  • Human Ortholog
    CTNS, cystinosin, lysosomal cystine transporter
    Orthology source: HomoloGene, HGNC
  • Synonyms
    CTNS-LSB, PQLC4
  • Links
    NCBI Gene ID: 1497
    neXtProt AC: NX_O60931

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

  • HomoloGene
    Vertebrate Homology Class 3625
    1 human;1 mouse;1 rat;1 chimpanzee;1 rhesus macaque;1 cattle;1 dog;1 chicken;1 zebrafish;1 frog, western clawed
  • HCOP
    human homology predictions: CTNS
  • Gene Tree
Human Diseases
more
  • Diseases
    1 with Ctns mouse models; 3 with human CTNS associations

Human Disease Mouse Models
       Cystinosis, Nephropathic; CTNS   OMIM: 219800 View 1 model
       Cystinosis, Adult Nonnephropathic   OMIM: 219750
Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type   OMIM: 219900
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    3 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    23 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
integument
immune system
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
neoplasm
vision/eye

Click cells to view annotations.
  • All Mutations and Alleles
    4
  • Chemically induced (other)
    1
  • Targeted
    3
  • Genomic Mutations
    2 involving Ctns
  • Incidental Mutations
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.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
receptor
receptor binding
RNA binding
transcription
transferase
transporter
Biological Process

nucleic acid-templated transcription
carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • cDNA Data
Interactions
less
Sequences &
Gene Models
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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 sequence
Polymorphisms
less
  • SNPs within 2kb
    182 from dbSNP Build 142
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 36
    cDNA 35
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
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MGI:2144084, MGI:2144487
References
more
  • Summaries
    All 38
    Diseases 3
    Gene Ontology 7
    Phenotypes 23
  • 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:233900 Gaide Chevronnay HP, et al., Hematopoietic Stem Cells Transplantation Can Normalize Thyroid Function in a Cystinosis Mouse Model. Endocrinology. 2016 Apr;157(4):1363-71

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
09/27/2016
MGI 6.05
The Jackson Laboratory