ENSG00000040531


Homo sapiens

Features
Gene ID: ENSG00000040531
  
Biological name :CTNS
  
Synonyms : CTNS / cystinosin, lysosomal cystine transporter / O60931
  
Possible biological names infered from orthology :
  
Species: Homo sapiens
  
Chr. number: 17
Strand: 1
Band: p13.2
Gene start: 3636468
Gene end: 3661542
  
Corresponding Affymetrix probe sets: 204925_at (Human Genome U133 Plus 2.0 Array)   215459_at (Human Genome U133 Plus 2.0 Array)   36566_at (Human Genome U133 Plus 2.0 Array)   
  
Cross references: Ensembl peptide - ENSP00000408652
Ensembl peptide - ENSP00000382245
Ensembl peptide - ENSP00000458457
Ensembl peptide - ENSP00000461118
Ensembl peptide - ENSP00000461056
Ensembl peptide - ENSP00000458912
Ensembl peptide - ENSP00000046640
Ensembl peptide - ENSP00000371294
NCBI entrez gene - 1497     See in Manteia.
OMIM - 606272
RefSeq - XM_017024258
RefSeq - NM_001031681
RefSeq - NM_004937
RefSeq - XM_005256485
RefSeq - XM_006721463
RefSeq - XM_006721464
RefSeq - XM_011523691
RefSeq - XM_011523692
RefSeq - XM_017024254
RefSeq - XM_017024255
RefSeq - XM_017024256
RefSeq - XM_017024257
RefSeq Peptide - NP_001026851
RefSeq Peptide - NP_004928
swissprot - A0A0S2Z3K3
swissprot - I3L0Z6
swissprot - I3L1K8
swissprot - C9JMM9
swissprot - I3L4A9
swissprot - O60931
swissprot - A0A0S2Z3I9
swissprot - I3L484
swissprot - A8MXW3
Ensembl - ENSG00000040531
  
Related genetic diseases (OMIM): 219750 - Cystinosis, ocular nonnephropathic, 219750
  219800 - Cystinosis, atypical nephropathic, 219800
  219900 - Cystinosis, late-onset juvenile or adolescent nephropathic, 219900
See expression report in BioGPS
See gene description in Wikigenes
See gene description in GeneCards
See co-cited genes in PubMed


Ortholog prediction (from Ensembl)
Ortholog nameID Species
 ctnsENSDARG00000008890Danio rerio
 CTNSENSGALG00000004628Gallus gallus
 CtnsENSMUSG00000005949Mus musculus


Paralog prediction (from Ensembl)
Paralog nameIDSimilarity(%)
No match


Protein motifs (from Interpro)
Interpro ID Name
 IPR005282  Lysosomal cystine transporter
 IPR006603  PQ-loop repeat


Gene Ontology (GO)
TypeGO IDTermEv.Code
 biological_processGO:0002088 lens development in camera-type eye IEA
 biological_processGO:0006520 cellular amino acid metabolic process NAS
 biological_processGO:0006749 glutathione metabolic process IMP
 biological_processGO:0006811 ion transport TAS
 biological_processGO:0007420 brain development IMP
 biological_processGO:0007616 long-term memory IEA
 biological_processGO:0007625 grooming behavior IEA
 biological_processGO:0007628 adult walking behavior IEA
 biological_processGO:0008542 visual learning IEA
 biological_processGO:0010730 negative regulation of hydrogen peroxide biosynthetic process IEA
 biological_processGO:0010918 positive regulation of mitochondrial membrane potential IEA
 biological_processGO:0015811 L-cystine transport NAS
 biological_processGO:0042438 melanin biosynthetic process IEA
 biological_processGO:0046034 ATP metabolic process IMP
 biological_processGO:0050890 cognition IMP
 biological_processGO:0055085 transmembrane transport TAS
 biological_processGO:1903427 negative regulation of reactive oxygen species biosynthetic process IEA
 cellular_componentGO:0005764 lysosome IEA
 cellular_componentGO:0005765 lysosomal membrane TAS
 cellular_componentGO:0005770 late endosome IDA
 cellular_componentGO:0005886 plasma membrane IEA
 cellular_componentGO:0016020 membrane IEA
 cellular_componentGO:0016021 integral component of membrane IEA
 cellular_componentGO:0042470 melanosome IEA
 cellular_componentGO:0043231 intracellular membrane-bounded organelle IDA
 cellular_componentGO:0045111 intermediate filament cytoskeleton IDA
 cellular_componentGO:0070062 extracellular exosome HDA
 molecular_functionGO:0015184 L-cystine transmembrane transporter activity TAS


Pathways (from Reactome)
Pathway description
Transport of inorganic cations/anions and amino acids/oligopeptides
Miscellaneous transport and binding events


Phenotype (from MGI, Zfin or HPO)
IDPhenotypeDefinition Genetic BG
 HP:0000007 Autosomal recessive inheritance "A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators]
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 HP:0000083 Renal failure 
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 HP:0000093 Proteinuria 
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 HP:0000103 Polyuria 
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 HP:0000124 Renal tubular dysfunction 
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 HP:0000488 Retinopathy 
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 HP:0000495 Recurrent corneal erosions "The presence of recurrent corneal epithelial erosions. Although most corneal epithelial defects heal quickly, some may show recurrent ulcerations." [HPO:curators]
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 HP:0000505 Impaired vision 
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 HP:0000531 Corneal crystals 
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 HP:0000580 Pigmentary retinopathy 
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 HP:0000613 Photophobia "Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light." [HPO:curators]
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 HP:0000787 Kidney stones 
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 HP:0000819 Diabetes mellitus 
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 HP:0000823 Delayed puberty 
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 HP:0000832 Primary hypothyroidism 
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 HP:0000897 Rachitic rosary 
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 HP:0000966 Hypohidrosis "Abnormally diminished capacity to sweat." [HPO:curators]
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 HP:0001010 Hypopigmentation of the skin 
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 HP:0001507 Growth abnormality 
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 HP:0001508 Failure to thrive 
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 HP:0001510 Growth retardation 
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 HP:0001531 Failure to thrive in infancy 
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 HP:0001608 Abnormality of the voice "Any abnormality of the voice." [HPO:curators]
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 HP:0001738 Exocrine pancreatic insufficiency 
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 HP:0001744 Splenomegaly "An abnormal enlargement of the spleen." [HPO:curators]
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 HP:0001944 Dehydration 
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 HP:0001959 Polydipsia 
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 HP:0001969 Tubulointerstitial abnormality 
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 HP:0001994 Renal Fanconi syndrome 
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 HP:0002007 Frontal bossing "The presence of an unusually prominent forehead." [HPO:curators]
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 HP:0002013 Vomiting 
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 HP:0002015 Dysphagia "Difficulty in swallowing." [HPO:curators]
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 HP:0002019 Constipation 
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 HP:0002059 Cerebral atrophy 
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 HP:0002148 Hypophosphatemia "A lower than normal level of blood phosphate." [HPO:curators]
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 HP:0002240 Hepatomegaly "An abnormal enlargment of the liver." [HPO:curators]
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 HP:0002344 Progressive neurologic deterioration 
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 HP:0002500 Abnormality of the cerebral white matter 
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 HP:0002748 Rickets 
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 HP:0002750 Delayed skeletal maturation "A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body." [HPO:curators]
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 HP:0002857 Genu valgum 
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 HP:0002900 Hypokalemia 
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 HP:0002902 Hyponatremia 
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 HP:0002907 Microscopic hematuria 
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 HP:0002909 Generalized aminoaciduria 
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 HP:0002926 Abnormality of thyroid laboratory results 
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 HP:0003016 Metaphyseal widening "Abnormal widening of the metaphyseal regions of long bones." [HPO:curators]
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 HP:0003076 Glycosuria "The excretion of abnormal amounts of glucose in the urine, generally resulting in osmotic diuresis." [HPO:curators]
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 HP:0003109 Hyperphosphaturia "An increased excretion of phosphates in the urine." [HPO:curators]
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 HP:0003126 Low-molecular-weight proteinuria 
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 HP:0003198 Myopathy 
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 HP:0003202 Amyotrophy "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators]
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 HP:0003234 Decreased plasma carnitine 
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 HP:0003251 Male infertility 
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 HP:0003355 Abnormal urinary amino-acid findings 
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 HP:0003358 Elevated white blood cell cystine 
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 HP:0003621 Juvenile onset 
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 HP:0003774 End stage renal disease 
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 HP:0004322 Decreased body height "A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms)." [HPO:curators]
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 HP:0004911 metabolic acidosis, episodic 
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 HP:0004912 hypophosphatemic rickets 
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 HP:0004918 hyperchloremic metabolic acidosis 
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 HP:0005599 Hair hypopigmentation 
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 HP:0007663 Decreased central vision 
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 HP:0007814 Salt and pepper retinopathy, early 
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 HP:0100511 Abnormality of vitamin D metabolism 
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 HP:0100543 Cognitive impairment "Abnormality in the process of thought including the ability to process information." [HPO:sdoelken]
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Interacting proteins (from Reactome)
Interactor ID Name Interaction type
No match






 

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