cystinosin, lysosomal cystine transporter

Summary
Gene Symbol
  • CTNS
Aliases
  • CTNS-LSB
  • PQLC4
  • SLC66A4
Organism
Homo sapiens (human)
External Links
NCBI Gene
1497
HGNC
2518
KEGG Gene ID
hsa:1497
PubChem
1497
Alliance of Genome Resources
Annotation
Keyword
  • 3D-structure
  • Alternative splicing
  • Cell membrane
  • Direct protein sequencing
  • Disease variant
  • Glycoprotein
  • Lysosome
  • Melanin biosynthesis
  • Protein transport
  • Proteomics identification
  • Reference proteome
  • Repeat
  • Signal
  • Symport
  • Transmembrane helix
  • Transport
Proteins
Displaying all 4 entries
UniProt Protein Name
O60931
I3L4A9
A0A0S2Z3K3
A0A0S2Z3I9
Gene Ontology (GO)
Displaying entry 31 - 31 of 31 in total
GO Term Evidence Code PMID
cognition
GO Hierarchy
GO Hierarchy
GO Hierarchy
KEGG BRITE Database
Orthology
K12386
Name
cystinosin
References
Disease
Disease Ontology
Displaying entries 41 - 50 of 102 in total
DO ID Disease Name Source
DOID:0110297 autosomal recessive limb-girdle muscular dystrophy type 2K
DOID:0110298 autosomal recessive limb-girdle muscular dystrophy type 2N
DOID:0110299 autosomal recessive limb-girdle muscular dystrophy type 2I
DOID:0110300 obsolete autosomal dominant limb-girdle muscular dystrophy type 1A
DOID:0110301 obsolete autosomal dominant limb-girdle muscular dystrophy type 1B
DOID:0110302 obsolete autosomal dominant limb-girdle muscular dystrophy type 1C
DOID:0110303 autosomal dominant limb-girdle muscular dystrophy type 1H
DOID:0110304 autosomal dominant limb-girdle muscular dystrophy type 2
DOID:0110305 autosomal dominant limb-girdle muscular dystrophy type 1
DOID:0110306 autosomal dominant limb-girdle muscular dystrophy type 3
The Human Phenotype Ontology
Displaying entries 1 - 10 of 99 in total
HPO ID HPO Term
HP:0000007 Autosomal recessive inheritance
HP:0000026 Male hypogonadism
HP:0000083 Renal insufficiency
HP:0000093 Proteinuria
HP:0000103 Polyuria
HP:0000114 Proximal tubulopathy
HP:0000117 Renal phosphate wasting
HP:0000124 Renal tubular dysfunction
HP:0000479 Abnormal retinal morphology
HP:0000481 Abnormal cornea morphology
Displaying all 6 entries
Disease ID Disease Name
OMIM:219800
  • nephropathic cystinosis
ORPHA:411629
  • nephropathic infantile cystinosis
OMIM:219900
  • juvenile nephropathic cystinosis
ORPHA:411641
  • ocular cystinosis
ORPHA:411634
  • juvenile nephropathic cystinosis
OMIM:219750
  • ocular cystinosis

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024