CTNS (gene)

CTNS
Identifiers
Aliases	CTNS, CTNS-LSB, PQLC4, cystinosin, lysosomal cystine transporter, SLC66A4
External IDs	OMIM: 606272; MGI: 1932872; HomoloGene: 3625; GeneCards: CTNS; OMA:CTNS - orthologs
Gene location (Human)
Chr.	Chromosome 17 (human)
End	3,663,103 bp
Gene location (Mouse)
Chr.	Chromosome 11 (mouse)
End	73,089,868 bp
RNA expression pattern
	Top expressed in
	right adrenal cortex; ; left adrenal cortex; ; body of pancreas; ; right uterine tube; ; right testis; ; tibial nerve; ; left testis; ; canal of the cervix; ; body of stomach; ; stromal cell of endometrium;
	Top expressed in
	lip; ; yolk sac; ; granulocyte; ; right kidney; ; seminal vesicula; ; secondary oocyte; ; muscle of thigh; ; transitional epithelium of urinary bladder; ; epithelium of small intestine; ; superior frontal gyrus;
	More reference expression data
	; ;
	More reference expression data
Gene ontology
Molecular function	L-cystine transmembrane transporter activity;
Cellular component	late endosome; intermediate filament cytoskeleton; integral component of membrane; intracellular membrane-bounded organelle; early endosome; membrane; melanosome; lysosome; plasma membrane; extracellular exosome; lysosomal membrane; vacuolar membrane;
Biological process	cognition; melanin biosynthetic process; transmembrane transport; glutathione metabolic process; visual learning; long-term memory; brain development; lens development in camera-type eye; adult walking behavior; ion transport; ATP metabolic process; cellular amino acid metabolic process; grooming behavior; L-cystine transport; transport; negative regulation of hydrogen peroxide biosynthetic process; positive regulation of mitochondrial membrane potential; negative regulation of reactive oxygen species biosynthetic process;
	Sources:Amigo / QuickGO
Orthologs
	1497
	83429
	ENSG00000040531
	ENSMUSG00000005949
	O60931
	P57757
NM_001031681; NM_004937; NM_001374492; NM_001374493; NM_001374494;
	NM_001374495; NM_001374496
	NM_031251; NM_001357891; NM_001357892
NP_001026851; NP_004928; NP_001361421; NP_001361422; NP_001361423;
	NP_001361424; NP_001361425
	NP_112541; NP_001344820; NP_001344821
	Wikidata
View/Edit Human	View/Edit Mouse

CTNS may also refer to the Center for Theology and the Natural Sciences.

CTNS is the gene that encodes the protein cystinosin in humans. Cystinosin is a lysosomal seven-transmembrane protein that functions as an active transporter for the export of cystine molecules out of the lysosome.^[5]

Mutations in CTNS are responsible for cystinosis, an autosomal recessive lysosomal storage disease.^[6]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000040531 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000005949 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ David D, Princiero Berlingerio S, Elmonem MA, Oliveira Arcolino F, Soliman N, van den Heuvel B, et al. (2019). "Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair". Nephron. 141 (2): 133–146. doi:10.1159/000495270. PMID 30554218. S2CID 58767583.
^ Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, et al. (April 1998). "A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis". Nature Genetics. 18 (4): 319–324. doi:10.1038/ng0498-319. PMID 9537412. S2CID 10629789.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000040531 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000005949 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[dd-5] David D, Princiero Berlingerio S, Elmonem MA, Oliveira Arcolino F, Soliman N, van den Heuvel B, et al. (2019). "Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair". Nephron. 141 (2): 133–146. doi:10.1159/000495270. PMID 30554218. S2CID 58767583.

[pmid9537412-6] Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, et al. (April 1998). "A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis". Nature Genetics. 18 (4): 319–324. doi:10.1038/ng0498-319. PMID 9537412. S2CID 10629789.

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