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: 60482
MIM: 608761
HGNC: 14025
Ensembl: ENSG00000115665
Variants:
dbSNP: 60482
ClinVar: 60482
TCGA: ENSG00000115665
COSMIC: SLC5A7
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000115665 | ENST00000264047 | Q9GZV3 |
| ENSG00000115665 | ENST00000409059 | Q9GZV3 |
Expression (GTEx)
Pathways
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38886633 | 2024 | Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene. | 0 |
| 38886633 | 2024 | Genetic analysis of a family affected by congenital myasthenic syndrome due to a Novel mutation in the SLC5A7 gene. | 0 |
| 34562520 | 2022 | Choline-induced SLC5A7 impairs colorectal cancer growth by stabilizing p53 protein. | 6 |
| 35858918 | 2022 | Targeted demethylation of the SLC5A7 promotor inhibits colorectal cancer progression. | 1 |
| 34562520 | 2022 | Choline-induced SLC5A7 impairs colorectal cancer growth by stabilizing p53 protein. | 6 |
| 35858918 | 2022 | Targeted demethylation of the SLC5A7 promotor inhibits colorectal cancer progression. | 1 |
| 31299140 | 2019 | The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome. | 7 |
| 31299140 | 2019 | The novel p.Ser263Phe mutation in the human high-affinity choline transporter 1 (CHT1/SLC5A7) causes a lethal form of fetal akinesia syndrome. | 7 |
| 29782645 | 2018 | Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales. | 3 |
| 30005279 | 2018 | Polymorphic variation in the SLC5A7 gene influences infant autonomic reactivity and self-regulation: A neurobiological model for ANS stress responsivity and infant temperament. | 3 |
| 29782645 | 2018 | Confirmation of SLC5A7-related distal hereditary motor neuropathy 7 in a family outside Wales. | 3 |
| 30005279 | 2018 | Polymorphic variation in the SLC5A7 gene influences infant autonomic reactivity and self-regulation: A neurobiological model for ANS stress responsivity and infant temperament. | 3 |
| 28830823 | 2017 | Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population. | 1 |
| 29088354 | 2017 | Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization. | 8 |
| 28830823 | 2017 | Lack of association between SLC5A7 polymorphisms and Tourette syndrome in a Chinese Han population. | 1 |
Citation
Dessen P
SLC5A7 (solute carrier family 5 member 7)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73465/slc5a7-(solute-carrier-family-5-member-7)
