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] See more...

Aliases for CTNS Gene

Aliases for CTNS Gene

  • Cystinosin, Lysosomal Cystine Transporter 2 3 5
  • Cystinosin 3 4
  • Cystinosis, Nephropathic 2
  • Cystinosis Nephropathic 3
  • CTNS-LSB 3
  • SLC66A4 3
  • PQLC4 3

External Ids for CTNS Gene

Previous GeneCards Identifiers for CTNS Gene

  • GC17P003854
  • GC17P003490
  • GC17P003746
  • GC17P003486
  • GC17P003431
  • GC17P003539

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 Type. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Lysosome. Gene Ontology (GO) annotations related to this gene include L-cystine transmembrane transporter activity.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for CTNS Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for CTNS Gene

Genomics for CTNS Gene

GeneHancer (GH) Regulatory Elements for CTNS Gene

Promoters and enhancers for CTNS Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around CTNS on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the CTNS gene promoter:
  • AML1a
  • E47
  • FAC1
  • Nkx2-5
  • Tal-1
  • USF1
  • ZID

Genomic Locations for CTNS Gene

Genomic Locations for CTNS Gene
chr17:3,636,468-3,663,103
(GRCh38/hg38)
Size:
26,636 bases
Orientation:
Plus strand
chr17:3,539,762-3,566,397
(GRCh37/hg19)
Size:
26,636 bases
Orientation:
Plus strand

Genomic View for CTNS Gene

Genes around CTNS on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CTNS Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
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

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 & Families for CTNS Gene

Gene Families for CTNS Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Potential drug targets
  • Predicted intracellular proteins
  • Predicted membrane proteins
  • Predicted secreted proteins
  • Transporters

Protein Domains for CTNS Gene

Suggested Antigen Peptide Sequences for CTNS Gene

GenScript: Design optimal peptide antigens:
  • Cystinosin (CTNS_HUMAN)
  • CTNS protein (Q6FGP9_HUMAN)

Graphical View of Domain Structure for InterPro Entry

O60931

UniProtKB/Swiss-Prot:

CTNS_HUMAN :
  • Belongs to the cystinosin family.
Family:
  • Belongs to the cystinosin family.
genes like me logo Genes that share domains with CTNS: view

Function for CTNS Gene

Molecular function for CTNS Gene

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.
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

Phenotypes From GWAS Catalog for CTNS Gene

Gene Ontology (GO) - Molecular Function for CTNS Gene

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

Human Phenotype Ontology for CTNS Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for CTNS Gene

MGI Knock Outs for CTNS:
  • Ctns Ctns<tm1Antc>

Animal Model Products

CRISPR Products

Clone Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CTNS gene
Compartment Confidence
plasma membrane 5
endosome 5
lysosome 5
cytoskeleton 4
mitochondrion 1
nucleus 1
cytosol 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Vesicles (3)
  • Intermediate filaments (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for CTNS Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005764 lysosome IEA,IDA 11855931
GO:0005765 lysosomal membrane TAS,IBA --
GO:0005769 NOT early endosome IDA 11150305
GO:0005770 late endosome IDA 15128704
GO:0005774 vacuolar membrane IBA 21873635
genes like me logo Genes that share ontologies with CTNS: view

Pathways & Interactions for CTNS Gene

genes like me logo Genes that share pathways with CTNS: view

Interacting Proteins for CTNS Gene

STRING Interaction Network Preview (showing top 5 STRING interactants - click image to see top 6)
STRING Interaction Network
Selected Interacting proteins: ENSP00000371294 O60931-CTNS_HUMAN for CTNS Gene via STRING IID

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

No data available for SIGNOR curated interactions for CTNS Gene

Drugs & Compounds for CTNS Gene

(1) Drugs for CTNS Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
cystine Approved Nutra Target 0

(1) Additional Compounds for CTNS Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with CTNS: view

Transcripts for CTNS Gene

mRNA/cDNA for CTNS Gene

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE for CTNS Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for CTNS Gene

This gene is overexpressed in Testis (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for CTNS Gene



Protein tissue co-expression partners for CTNS Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CTNS Gene:

CTNS

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.

Evidence on tissue expression from TISSUES for CTNS Gene

  • Kidney(4.5)
  • Spleen(4.2)
  • Thyroid gland(2)
  • Nervous system(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CTNS Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cranial nerve
  • ear
  • eye
  • face
  • forehead
  • head
  • hypothalamus
  • jaw
  • larynx
  • mandible
  • maxilla
  • mouth
  • neck
  • pharynx
  • pituitary gland
  • skull
  • thyroid
  • tooth
  • vocal cord
Thorax:
  • chest wall
  • clavicle
  • esophagus
  • heart
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
Abdomen:
  • intestine
  • kidney
  • large intestine
  • liver
  • pancreas
  • small intestine
  • spleen
  • stomach
Pelvis:
  • fallopian tube
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vas deferens
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • red blood cell
  • skin
  • spinal column
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with CTNS: view

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 33 32
  • 93.38 (n)
OneToOne
cow
(Bos Taurus)
Mammalia CTNS 33 32
  • 87.66 (n)
OneToOne
dog
(Canis familiaris)
Mammalia CTNS 33 32
  • 87.29 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ctns 17 33 32
  • 83.24 (n)
rat
(Rattus norvegicus)
Mammalia Ctns 32
  • 83.06 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia CTNS 33
  • 72 (a)
OneToOne
chicken
(Gallus gallus)
Aves CTNS 33 32
  • 67.84 (n)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia ctns 32
  • 64.12 (n)
Str.5735 32
zebrafish
(Danio rerio)
Actinopterygii ctns 33 32
  • 64.05 (n)
OneToOne
Dr.16073 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004115 32
  • 58.67 (n)
fruit fly
(Drosophila melanogaster)
Insecta CG17119 33 34 32
  • 55.86 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ctns-1 33 32
  • 51.37 (n)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes ERS1 35 33
  • 28 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons AT5G40670 32
  • 51.84 (n)
rice
(Oryza sativa)
Liliopsida Os12g0278700 32
  • 51.36 (n)
sea squirt
(Ciona savignyi)
Ascidiacea -- 33
  • 50 (a)
OneToOne
Cin.7965 32
bread mold
(Neurospora crassa)
Ascomycetes NCU01250 32
  • 49.74 (n)
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.7965 32
Species where no ortholog for CTNS was found in the sources mined by GeneCards:
  • 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)
Aminode:
Evolutionary constrained regions (ECRs) for CTNS: view image

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 Variation AA Info Type
rs1048646 likely-benign, Cystinosis, Nephropathic cystinosis 3,660,924(+) T/C 3_prime_UTR_variant
rs1048647 likely-benign, Cystinosis, Nephropathic cystinosis 3,660,996(+) T/C 3_prime_UTR_variant
rs1048648 likely-benign, Cystinosis, Nephropathic cystinosis 3,661,000(+) T/C 3_prime_UTR_variant
rs1048649 likely-benign, Cystinosis, Nephropathic cystinosis 3,661,084(+) C/T 3_prime_UTR_variant
rs1048673 likely-benign, Nephropathic cystinosis, Cystinosis 3,661,393(+) C/T 3_prime_UTR_variant

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

Variant ID Type Subtype PubMed ID
dgv3085n100 CNV loss 25217958
dgv358n27 CNV loss 19166990
dgv5423n54 CNV loss 21841781
dgv882e212 CNV loss 25503493
esv2662762 CNV deletion 23128226
esv2762588 CNV loss 21179565
esv3572354 CNV gain 25503493
esv3639749 CNV gain 21293372
esv3639752 CNV loss 21293372
nsv1055740 CNV gain 25217958
nsv1065489 CNV gain 25217958
nsv1947 CNV insertion 18451855
nsv516676 CNV gain+loss 19592680
nsv574237 CNV loss 21841781
nsv833342 CNV loss 17160897
nsv952107 CNV deletion 24416366

Variation tolerance for CTNS Gene

Residual Variation Intolerance Score: 82.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 5.07; 68.86% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for CTNS Gene

Human Gene Mutation Database (HGMD)
CTNS
SNPedia medical, phenotypic, and genealogical associations of SNPs for
CTNS

SNP Genotyping and Copy Number Assay Products

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

Disorders for CTNS Gene

MalaCards: The human disease database

(9) MalaCards diseases for CTNS Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cystinosis, nephropathic
  • ctns
cystinosis, late-onset juvenile or adolescent nephropathic type
  • cystinosis, intermediate
cystinosis, adult nonnephropathic
  • cystinosis, ocular nonnephropathic
cystinosis
  • cystine storage disease
fanconi syndrome
  • adult fanconi syndrome
- elite association - COSMIC cancer census association via MalaCards
Search CTNS in MalaCards View complete list of genes associated with diseases

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. {ECO:0000269 PubMed:10625078}. 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.

Genatlas disease for CTNS Gene

cystinosis,infantile,nephropathic type

Additional Disease Information for CTNS

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
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 (Nature genetics 1998) 2 3 4 23 56
  2. Characterization of CTNS mutations in Arab patients with cystinosis. (PMID: 19852576) Aldahmesh MA … Alkuraya FS (Ophthalmic genetics 2009) 3 4 23 56
  3. Identification and subcellular localization of a new cystinosin isoform. (PMID: 18337546) Taranta A … Emma F (American journal of physiology. Renal physiology 2008) 3 4 23 56
  4. Association of sixty-one non-synonymous polymorphisms in forty-one hypertension candidate genes with blood pressure variation and hypertension. (PMID: 17137217) Kokubo Y … Miyata T (Hypertension research : official journal of the Japanese Society of Hypertension 2006) 3 23 43 56
  5. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. (PMID: 15128704) Kalatzis V … Antignac C (Human molecular genetics 2004) 2 3 23 56

Products for CTNS Gene

Sources for CTNS Gene