CTNS
  • 30
    Haplo
    Score
  • 0
    Triplo
    Score

Gene Facts External Data Attribution

HGNC Symbol
CTNS (HGNC:2518) HGNC Entrez Ensembl OMIM UCSC Uniprot GeneReviews LOVD LSDB ClinVar
HGNC Name
cystinosin, lysosomal cystine transporter
Gene type
protein-coding gene
Locus type
gene with protein product
Previous symbols
No previous names found
Alias symbols
CTNS-LSB, PQLC4, SLC66A4
%HI
58.83(Read more about the DECIPHER Haploinsufficiency Index)
pLI
0(Read more about gnomAD pLI score)
LOEUF
0.76(Read more about gnomAD LOEUF score)
Cytoband
17p13.2
Genomic Coordinates
GRCh37/hg19: chr17:3539753-3566397 NCBI Ensembl UCSC
GRCh38/hg38: chr17:3636459-3663103 NCBI Ensembl UCSC
MANE Select Transcript
NM_004937.3 ENST00000046640.9 (Read more about MANE Select)
Function
Cystine/H(+) symporter that mediates export of cystine, the oxidized dimer of cysteine, from lysosomes (PubMed:11689434, PubMed:18337546, PubMed:22232659, PubMed:29467429, PubMed:33208952, PubMed:15128704, PubMed:36113465). Plays an important role in melanin synthesis by catalyzing cystine export from melanosomes, possibly by inhibiting pheomelanin synthesis (PubMed:22649030). In addition to cystine export, also acts as a positive regulator of mTORC1 signaling in kidney proximal tubular cells, v... (Source: Uniprot)

Dosage Sensitivity Summary (Gene)

Dosage ID:
ISCA-32498
ClinGen Curation ID:
CCID:006955
Curation Status:
Complete
Issue Type:
Dosage Curation - Gene
Haploinsufficiency:
Gene Associated with Autosomal Recessive Phenotype (30)
Read full report...
Triplosensitivity:
No Evidence for Triplosensitivity (0)
Read full report...
Last Evaluated:
08/22/2012

Haploinsufficiency (HI) Score Details

HI Score:
30
HI Evidence Strength:
Gene Associated with Autosomal Recessive Phenotype (Disclaimer)
HI Disease:
HI Evidence Comments:
Loss of function mutations in CTNS are associated with the autosomal recessive condition cystinosis. A 57 kb deletion that involves ~10 exons of CTNS is detected as one of the mutations in ~40% of Northern Europeans with nephropathic cystinosis. Heterozygous carriers are unaffected.

Triplosensitivity (TS) Score Details

TS Score:
0
TS Evidence Strength:
No Evidence for Triplosensitivity (Disclaimer)

Genomic View

Select assembly: (NC_000017.10) (NC_000017.11)