Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 57709
MIM: 615720
HGNC: 29326
Ensembl: ENSG00000013293
Variants:
dbSNP: 57709
ClinVar: 57709
TCGA: ENSG00000013293
COSMIC: SLC7A14
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000013293 | ENST00000231706 | Q8TBB6 |
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35394837 | 2022 | Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction. | 6 |
| 35394837 | 2022 | Mutation of SLC7A14 causes auditory neuropathy and retinitis pigmentosa mediated by lysosomal dysfunction. | 6 |
| 30924391 | 2019 | Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. | 1 |
| 30924391 | 2019 | Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. | 1 |
| 27028480 | 2017 | Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa. | 2 |
| 27028480 | 2017 | Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa. | 2 |
| 24670872 | 2014 | SLC7A14 linked to autosomal recessive retinitis pigmentosa. | 42 |
| 24670872 | 2014 | SLC7A14 linked to autosomal recessive retinitis pigmentosa. | 42 |
| 22787143 | 2012 | A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. | 5 |
| 22787143 | 2012 | A chimera carrying the functional domain of the orphan protein SLC7A14 in the backbone of SLC7A2 mediates trans-stimulated arginine transport. | 5 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
| 20379614 | 2010 | Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. | 78 |
Citation
Dessen P
SLC7A14 (solute carrier family 7 member 14)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73483/slc7a14-(solute-carrier-family-7-member-14)
