CTNS (cystinosin, lysosomal cystine transporter)

2017-04-01  

Identity

HGNC
CTNS
LOCATION
17p13.2
LOCUSID
1497
ALIAS
CTNS-LSB,PQLC4,SLC66A4
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 1497
MIM: 606272
HGNC: 2518
Ensembl: ENSG00000040531

Variants:

dbSNP: 1497
ClinVar: 1497
TCGA: ENSG00000040531
COSMIC: CTNS

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000040531ENST00000046640O60931
ENSG00000040531ENST00000046640A0A0S2Z3K3
ENSG00000040531ENST00000381870O60931
ENSG00000040531ENST00000381870A0A0S2Z3I9
ENSG00000040531ENST00000399306A8MXW3
ENSG00000040531ENST00000452111C9JMM9
ENSG00000040531ENST00000467663I3L484
ENSG00000040531ENST00000574218I3L1K8
ENSG00000040531ENST00000574776I3L4A9
ENSG00000040531ENST00000576979I3L0Z6
ENSG00000040531ENST00000673965A0A0S2Z3K3

Expression (GTEx)

0
5
10
15
20
25
30
35
40
45
50
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

Pathways

PathwaySourceExternal ID
LysosomeKEGGko04142
LysosomeKEGGhsa04142
Transmembrane transport of small moleculesREACTOMER-HSA-382551
SLC-mediated transmembrane transportREACTOMER-HSA-425407
Transport of inorganic cations/anions and amino acids/oligopeptidesREACTOMER-HSA-425393
Miscellaneous transport and binding eventsREACTOMER-HSA-5223345

References

Pubmed IDYearTitleCitations
379493582024Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells.0
379493582024Omic Studies on In Vitro Cystinosis Model: siRNA-Mediated CTNS Gene Silencing in HK-2 Cells.0
354459722023Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.2
380693262023Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation.0
354459722023Clinical and genetic characteristics of Tunisian children with infantile nephropathic cystinosis.2
380693262023Studies with Human-Induced Pluripotent Stem Cells Reveal That CTNS Mutations Can Alter Renal Proximal Tubule Differentiation.0
355138892022Cystinosis and two rare mutations in CTNS gene: two case reports.2
355243142022Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.1
355138892022Cystinosis and two rare mutations in CTNS gene: two case reports.2
355243142022Molecular characterization of CTNS mutations in Tunisian patients with ocular cystinosis.1
338496332021Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations).10
345721462021Response to Cysteamine in Osteoclasts Obtained from Patients with Nephropathic Cystinosis: A Genotype/Phenotype Correlation.2
349116132021Cystinosis induced by CTNS gene mutation: a rare disease study.0
349437812021Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside.4
338496332021Assessing the integrity of auditory processing and sensory memory in adults with cystinosis (CTNS gene mutations).10

Citation

Dessen P

CTNS (cystinosin, lysosomal cystine transporter)

Atlas Genet Cytogenet Oncol Haematol. 2017-04-01

Online version: http://atlasgeneticsoncology.org/gene/56863/case-report-explorer/favicon/haematological-explorer/