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Aliases for CTNS Gene

Aliases for CTNS Gene

  • Cystinosin, Lysosomal Cystine Transporter 2 3
  • Cystinosis, Nephropathic 2
  • Cystinosin 3
  • CTNS-LSB 3
  • PQLC4 3

External Ids for CTNS Gene

Previous GeneCards Identifiers for CTNS Gene

  • GC17P003854
  • GC17P003490
  • GC17P003746
  • GC17P003486
  • GC17P003431

Summaries for CTNS Gene

Entrez Gene Summary for CTNS Gene

  • 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]

GeneCards Summary for CTNS Gene

CTNS (Cystinosin, Lysosomal Cystine Transporter) is a Protein Coding gene. Diseases associated with CTNS include cystinosis, nephropathic and cystinosis, late-onset juvenile or adolescent nephropathic. Among its related pathways are Lysosome. GO annotations related to this gene include L-cystine transmembrane transporter activity.

UniProtKB/Swiss-Prot for CTNS Gene

  • Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.

Gene Wiki entry for CTNS Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CTNS Gene

Genomics for CTNS Gene

Regulatory Elements for CTNS Gene

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

Genomic Location for CTNS Gene

Start:
3,636,468 bp from pter
End:
3,663,103 bp from pter
Size:
26,636 bases
Orientation:
Plus strand

Genomic View for CTNS Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for CTNS Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for CTNS Gene

Proteins for CTNS Gene

  • Protein details for CTNS Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    O60931-CTNS_HUMAN
    Recommended name:
    Cystinosin
    Protein Accession:
    O60931
    Secondary Accessions:
    • D3DTJ5
    • Q8IZ01
    • Q9UNK6

    Protein attributes for CTNS Gene

    Size:
    367 amino acids
    Molecular mass:
    41738 Da
    Quaternary structure:
    No Data Available

    Alternative splice isoforms for CTNS Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for CTNS Gene

Proteomics data for CTNS Gene at MOPED

Post-translational modifications for CTNS Gene

  • Glycosylation at Asn36, Asn41, Asn51, Asn66, Asn84, Asn104, and Asn107
  • Modification sites at PhosphoSitePlus

No data available for DME Specific Peptides for CTNS Gene

Domains for CTNS Gene

Protein Domains for CTNS Gene

Suggested Antigen Peptide Sequences for CTNS Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

O60931

UniProtKB/Swiss-Prot:

CTNS_HUMAN :
  • O60931
Domain:
  • Contains 2 PQ-loop domains.
Family:
  • Belongs to the cystinosin family.
genes like me logo Genes that share domains with CTNS: view

No data available for Gene Families for CTNS Gene

Function for CTNS Gene

Molecular function for CTNS Gene

GENATLAS Biochemistry: cytinosin,strongly expressed in pancreas,kidney,skeletal muscle,homolog to C elegans C41C4.7 protein and yeast ERS1,involved in cystine transport across the lysosomal membrane
UniProtKB/Swiss-Prot Function: Cystine/H(+) symporter thought to transport cystine out of lysosomes. Plays an important role in melanin synthesis, possibly by preventing melanosome acidification and subsequent degradation of tyrosinase TYR.

Gene Ontology (GO) - Molecular Function for CTNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0015184 L-cystine transmembrane transporter activity NAS 9537412
genes like me logo Genes that share ontologies with CTNS: view
genes like me logo Genes that share phenotypes with CTNS: view

Animal Model Products

miRNA for CTNS Gene

miRTarBase miRNAs that target CTNS

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CTNS

In Situ Assay Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Animal Models , Transcription Factor Targeting and HOMER Transcription for CTNS Gene

Localization for CTNS Gene

Subcellular locations from UniProtKB/Swiss-Prot for CTNS Gene

Isoform 1: Lysosome membrane; Multi-pass membrane protein. Melanosome.
Isoform 2: Lysosome membrane; Multi-pass membrane protein. Cell membrane; Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for CTNS Gene COMPARTMENTS Subcellular localization image for CTNS gene
Compartment Confidence
endosome 5
lysosome 5
plasma membrane 5
vacuole 5
cytoskeleton 1
nucleus 1

Gene Ontology (GO) - Cellular Components for CTNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IDA 11855931
GO:0005765 lysosomal membrane TAS --
GO:0005769 NOT early endosome IDA 11150305
GO:0005770 late endosome IDA 15128704
GO:0005886 plasma membrane IEA --
genes like me logo Genes that share ontologies with CTNS: view

Pathways for CTNS Gene

SuperPathways for CTNS Gene

Superpath Contained pathways
1 Lysosome
genes like me logo Genes that share pathways with CTNS: view

Pathways by source for CTNS Gene

1 KEGG pathway for CTNS Gene

Interacting Proteins for CTNS Gene

STRING Interaction Network Preview (showing 3 interactants - click image to see details)
http://string-db.org/version_10/api/image/networkList?limit=0&targetmode=proteins&caller_identity=gene_cards&network_flavor=evidence&identifiers=9606.ENSP00000371294%0d%0a9606.ENSP00000344779%0d%0a9606.ENSP00000006777%0d%0a9606.ENSP00000216085%0d%0a
Selected Interacting proteins: ENSP00000371294 for CTNS Gene via STRING

Gene Ontology (GO) - Biological Process for CTNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0002088 lens development in camera-type eye IEA --
GO:0006520 cellular amino acid metabolic process NAS 9537412
GO:0006749 glutathione metabolic process IMP 15956064
GO:0006811 ion transport TAS --
GO:0007420 brain development IMP 17471495
genes like me logo Genes that share ontologies with CTNS: view

Compounds for CTNS Gene

(1) HMDB Compounds for CTNS Gene

Compound Synonyms Cas Number PubMed IDs
L-Cystine
  • (-)-Cystine
56-89-3

(1) Drugbank Compounds for CTNS Gene

Compound Synonyms Cas Number Type Actions PubMed IDs
L-Cystine
  • (-)-Cystine
56-89-3 target

(2) Novoseek inferred chemical compound relationships for CTNS Gene

Compound -log(P) Hits PubMed IDs
cystine 92.9 29
sialic acid 20.4 1
genes like me logo Genes that share compounds with CTNS: view

Transcripts for CTNS Gene

Unigene Clusters for CTNS Gene

Cystinosin, lysosomal cystine transporter:
Representative Sequences:

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for CTNS

Primer Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for CTNS Gene

ExUns: 1 ^ 2a · 2b · 2c · 2d · 2e ^ 3 ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - - - - - -
SP2: - -
SP3: - - -
SP4: - - -
SP5: -
SP6: -
SP7: - - - - -

Relevant External Links for CTNS Gene

GeneLoc Exon Structure for
CTNS
ECgene alternative splicing isoforms for
CTNS

Expression for CTNS Gene

mRNA expression in normal human tissues for CTNS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB and MOPED for CTNS Gene

SOURCE GeneReport for Unigene cluster for CTNS Gene Hs.187667

mRNA Expression by UniProt/SwissProt for CTNS Gene

O60931-CTNS_HUMAN
Tissue specificity: Strongly expressed in pancreas, kidney (adult and fetal), skeletal muscle, melanocytes and keratinocytes. Expressed at lower levels in placenta and heart. Weakly expressed in lung, liver and brain (adult and fetal). Isoform 2 represents 5-20 % of CTNS transcripts, with the exception of the testis that expresses both isoforms in equal proportions.
genes like me logo Genes that share expressions with CTNS: view

In Situ Assay Products

No data available for mRNA differential expression in normal tissues for CTNS Gene

Orthologs for CTNS Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for CTNS Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia CTNS 35
  • 93.38 (n)
  • 91.71 (a)
CTNS 36
  • 98 (a)
OneToOne
cow
(Bos Taurus)
Mammalia CTNS 35
  • 87.66 (n)
  • 85.08 (a)
CTNS 36
  • 84 (a)
OneToOne
dog
(Canis familiaris)
Mammalia CTNS 35
  • 87.29 (n)
  • 84.53 (a)
CTNS 36
  • 84 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ctns 35
  • 83.24 (n)
  • 83.98 (a)
Ctns 16
Ctns 36
  • 83 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia CTNS 36
  • 72 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ctns 35
  • 83.06 (n)
  • 82.04 (a)
chicken
(Gallus gallus)
Aves CTNS 35
  • 67.84 (n)
  • 70.59 (a)
CTNS 36
  • 67 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctns 35
  • 64.12 (n)
  • 66.18 (a)
Str.5735 35
zebrafish
(Danio rerio)
Actinopterygii ctns 35
  • 64.05 (n)
  • 61.06 (a)
ctns 36
  • 57 (a)
OneToOne
Dr.16073 35
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004115 35
  • 58.67 (n)
  • 54.07 (a)
fruit fly
(Drosophila melanogaster)
Insecta CG17119 35
  • 55.86 (n)
  • 49.66 (a)
CG17119 36
  • 39 (a)
OneToOne
CG17119 37
  • 49 (a)
worm
(Caenorhabditis elegans)
Secernentea ctns-1 35
  • 51.37 (n)
  • 47.54 (a)
ctns-1 36
  • 33 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERS1 36
  • 28 (a)
OneToOne
ERS1 38
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40670 35
  • 51.84 (n)
  • 45.67 (a)
rice
(Oryza sativa)
Liliopsida Os12g0278700 35
  • 51.36 (n)
  • 45.12 (a)
bread mold
(Neurospora crassa)
Ascomycetes NCU01250 35
  • 49.74 (n)
  • 41.02 (a)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7965 35
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 50 (a)
OneToOne
Species with no ortholog for CTNS:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for CTNS Gene

ENSEMBL:
Gene Tree for CTNS (if available)
TreeFam:
Gene Tree for CTNS (if available)

Paralogs for CTNS Gene

No data available for Paralogs for CTNS Gene

Variants for CTNS Gene

Sequence variations from dbSNP and Humsavar for CTNS Gene

SNP ID Clin Chr 17 pos Sequence Context AA Info Type MAF
rs16739 -- 3,661,399(-) GGACA(-/GAC)AGCTT utr-variant-3-prime
rs67909 -- 3,639,230(+) TTGAC(C/G)CACTG intron-variant
rs161350 -- 3,650,232(-) CATCT(C/T)GATGT intron-variant
rs161351 -- 3,649,078(-) CATCC(C/G)CAAAA intron-variant
rs161352 -- 3,648,322(+) TGGAG(C/T)GGCCT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for CTNS Gene

Variant ID Type Subtype PubMed ID
nsv907565 CNV Loss 21882294
nsv516676 CNV Gain+Loss 19592680
esv2662762 CNV Deletion 23128226
dgv358n27 CNV Loss 19166990
nsv833342 CNV Loss 17160897
nsv1947 CNV Insertion 18451855
nsv907569 CNV Loss 21882294

Relevant External Links for CTNS Gene

HapMap Linkage Disequilibrium report
CTNS
Human Gene Mutation Database (HGMD)
CTNS

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for CTNS Gene

Disorders for CTNS Gene

(3) OMIM Diseases for CTNS Gene (606272)

UniProtKB/Swiss-Prot

CTNS_HUMAN
  • Cystinosis, nephropathic type (CTNS) [MIM:219800]: A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. The classical nephropathic form has onset in the first year of life and is characterized by a polyuro-polydipsic syndrome, marked height-weight growth delay, generalized impaired proximal tubular reabsorptive capacity, with severe fluid-electrolyte balance alterations, renal failure, ocular symptoms and other systemic complications. {ECO:0000269 PubMed:10482956, ECO:0000269 PubMed:10556299, ECO:0000269 PubMed:12204010, ECO:0000269 PubMed:12442267, ECO:0000269 PubMed:12825071, ECO:0000269 PubMed:19852576, ECO:0000269 PubMed:21786142, ECO:0000269 PubMed:22450360, ECO:0000269 PubMed:9792862}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cystinosis, adult, non-nephropathic type (CTNSANN) [MIM:219750]: A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Cystinosis adult non-nephropathic type is characterized by ocular features and a benign course. Patients manifest mild photophobia due to conjunctival and corneal cystine crystals. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • Cystinosis, late-onset juvenile or adolescent nephropathic type (CTNSJAN) [MIM:219900]: A form of cystinosis, a lysosomal storage disease due to defective transport of cystine across the lysosomal membrane. This results in cystine accumulation and crystallization in the cells causing widespread tissue damage. Late-onset juvenile or adolescent nephropathic cystinosis is an intermediated form, manifesting first at age 10 to 12 years with proteinuria due to glomerular damage rather than with the manifestations of tubular damage that occur first in infantile cystinosis. There is no excess amino aciduria and stature is normal. Photophobia, late development of pigmentary retinopathy, and chronic headaches are features. {ECO:0000269 PubMed:10444339, ECO:0000269 PubMed:12442267, ECO:0000269 PubMed:9792862}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(3) University of Copenhagen DISEASES for CTNS Gene

(5) Novoseek inferred disease relationships for CTNS Gene

Disease -log(P) Hits PubMed IDs
cystinosis 98.5 49
cystinosis, nephropathic 97.8 19
cystinosis, intermediate 95.6 2
lysosomal storage diseases 70.5 3
renal disease 25.9 1

Genatlas disease for CTNS Gene

cystinosis,infantile,nephropathic type

Relevant External Links for CTNS

GeneTests
CTNS
GeneReviews
CTNS
Genetic Association Database (GAD)
CTNS
Human Genome Epidemiology (HuGE) Navigator
CTNS
genes like me logo Genes that share disorders with CTNS: view

Publications for CTNS Gene

  1. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. (PMID: 9537412) Town M. … Antignac C. (Nat. Genet. 1998) 2 3 4 23
  2. CTNS mutations in an American-based population of cystinosis patients. (PMID: 9792862) Shotelersuk V. … Gahl W.A. (Am. J. Hum. Genet. 1998) 3 4 23
  3. Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). (PMID: 10068513) Anikster Y. … Gahl W.A. (Mol. Genet. Metab. 1999) 3 4 23
  4. Mutations of CTNS causing intermediate cystinosis. (PMID: 10444339) Thoene J. … Campbell H.T. (Mol. Genet. Metab. 1999) 3 4 23
  5. Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. (PMID: 10482956) McGowan-Jordan J. … Heick H. (Eur. J. Hum. Genet. 1999) 3 4 23

Products for CTNS Gene

Sources for CTNS Gene

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