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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
  • Alliance
  • Transcription Start Sites
    2 TSS
Location &
Maps
more
  • Sequence Map
    Chr11:73183596-73199042 bp, - strand
  • From Ensembl annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 11, 45.25 cM
  • Mapping Data
    3 experiments
Strain
Comparison
more
  • SNPs within 2kb
    182 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_1932872
protein coding gene Chr11:73183133-73199042 (-)
129S1/SvImJ MGP_129S1SvImJ_G0018656
protein coding gene Chr11:73864959-73880285 (-)
A/J MGP_AJ_G0018624
protein coding gene Chr11:71091018-71107483 (-)
AKR/J MGP_AKRJ_G0018593
protein coding gene Chr11:73264029-73281932 (-)
BALB/cJ MGP_BALBcJ_G0018596
protein coding gene Chr11:71393287-71409418 (-)
C3H/HeJ MGP_C3HHeJ_G0018409
protein coding gene Chr11:73215105-73231389 (-)
C57BL/6NJ MGP_C57BL6NJ_G0019047
protein coding gene Chr11:76115104-76130418 (-)
CAROLI/EiJ MGP_CAROLIEiJ_G0016690
protein coding gene Chr11:67896446-67912121 (-)
CAST/EiJ MGP_CASTEiJ_G0017964
protein coding gene Chr11:73599560-73614861 (-)
CBA/J MGP_CBAJ_G0018381
protein coding gene Chr11:79463190-79478656 (-)
DBA/2J MGP_DBA2J_G0018490
protein coding gene Chr11:70719173-70734552 (-)
FVB/NJ MGP_FVBNJ_G0018481
protein coding gene Chr11:70264576-70280479 (-)
LP/J MGP_LPJ_G0018561
protein coding gene Chr11:74380280-74395590 (-)
NOD/ShiLtJ MGP_NODShiLtJ_G0018504
protein coding gene Chr11:79978369-79993649 (-)
NZO/HlLtJ MGP_NZOHlLtJ_G0019089
protein coding gene Chr11:73445361-73462366 (-)
PWK/PhJ MGP_PWKPhJ_G0017737
protein coding gene Chr11:71359502-71375018 (-)
SPRET/EiJ MGP_SPRETEiJ_G0017527
protein coding gene Chr11:73161135-73176526 (-)
WSB/EiJ MGP_WSBEiJ_G0018018
protein coding gene Chr11:73197495-73212864 (-)



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, SLC66A4
  • Links
    NCBI Gene ID: 1497
    neXtProt AC: NX_O60931
    UniProt: O60931

  • Chr Location
    17p13.2; chr17:3636391-3663103 (+)  GRCh38.p7

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

Human Disease Mouse Models
      
IDs
View 1 model
Click on a disease name to see all genes associated with that disease.

  • Mutations/Alleles
    1 with disease annotations
  • References
    1 with disease annotations
Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    12 phenotypes from 1 allele in 1 genetic background
    26 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
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
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
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
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
less
Representative SequencesLengthStrain/SpeciesFlank
genomic ENSMUSG00000005949 Ensembl Gene Model | MGI Sequence Detail 15447 C57BL/6J ±  kb
transcript ENSMUST00000108476 Ensembl | MGI Sequence Detail 2723 Not Applicable  
polypeptide ENSMUSP00000104116 Ensembl | MGI Sequence Detail 367 Not Applicable  
For the selected sequence
Protein
Information
less
Molecular
Reagents
less
  • All nucleic 37
    cDNA 36
    Primer pair 1

    Microarray probesets 3
Other
Accession IDs
less
MGI:2144084, MGI:2144487
References
more
  • Summaries
    All 51
    Diseases 1
    Gene Ontology 9
    Phenotypes 26
  • Earliest
    J:137335 Roderick TH, Chromosomal inversions in studies of mammalian mutagenesis. Genetics. 1979 May;92(1 Pt 1 Suppl):s121-6
  • Latest
    J:259940 Festa BP, et al., Impaired autophagy bridges lysosomal storage disease and epithelial dysfunction in the kidney. Nat Commun. 2018 Jan 11;9(1):161

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources
Funding Information
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last database update
11/06/2018
MGI 6.13
The Jackson Laboratory