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Gene : CTNS Homo sapiens

Name  ? cystinosin, lysosomal cystine transporter Cytological Location  17p13.2
Brief Description  cystinosin, lysosomal cystine transporter
Description  This gene encodes a seven-transmembrane domain protein that functions to transport cystine out of lysosomes. Its activity is driven by the H+ electrochemical gradient of the lysosomal membrane. Mutations in this gene cause cystinosis, a lysosomal storage disorder. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2009]
  • synonyms:
  • SLC66A4,
  • SLC66A4,
  • uc002fwb.4,
  • NM_004937,
  • OTTHUMG00000090693,
  • HGNC:2518,
  • CTNS,
  • PQLC4,
  • PQLC4,
  • cystinosis, nephropathic,
  • AJ222967
  • identifiers:
  • 1497,
  • ENSG00000040531,
  • CTNS

Genome feature

Region: gene ? Length: 26645  
Location: 17:3636459-3663103 Cyto location: 17p13.2

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Gene Ontology Displayer

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene --> Chromosomal location.

Gene --> GO terms.

Gene --> Overlapping genes.


Gene --> Proteins.


Gene Report --> GWAS hit


3 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


Homologue Displayer


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Gene --> Physical and Genetic Interactions


Gene(s) --> Significant SNPs (GTex data)

Gene Ontology

Gene --> GO terms.



3740 SNPs

5 Cross References

16 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results