Identity
HGNC
LOCATION
10q22.1
LOCUSID
ALIAS
ENT3,HCLAP,HJCD,PHID
FUSION GENES
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: 55315
MIM: 612373
HGNC: 23096
Ensembl: ENSG00000198246
Variants:
dbSNP: 55315
ClinVar: 55315
TCGA: ENSG00000198246
COSMIC: SLC29A3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | ||
| PA449748 | gemcitabine | Chemical | ClinicalAnnotation | associated | PD |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38104646 | 2024 | Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers. | 0 |
| 38546281 | 2024 | Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population. | 0 |
| 38104646 | 2024 | Equilibrative nucleotide transporter ENT3 (SLC29A3): A unique transporter for inherited disorders and cancers. | 0 |
| 38546281 | 2024 | Identification of Coding Variants in 10q22.1 Associated with Vitiligo in the Chinese Han Population. | 0 |
| 37738562 | 2023 | Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling. | 2 |
| 37738562 | 2023 | Loss of function of ENT3 drives histiocytosis and inflammation through TLR-MAPK signaling. | 2 |
| 33837634 | 2021 | Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl. | 3 |
| 34657628 | 2021 | Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene. | 6 |
| 33837634 | 2021 | Resolution of sclerotic lesions of dysosteosclerosis due to biallelic SLC29A3 variant in a Turkish girl. | 3 |
| 34657628 | 2021 | Phenotypic intrafamilial variability including H syndrome and Rosai-Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene. | 6 |
| 32738187 | 2020 | MiR-1224-5p acts as a tumor suppressor via inhibiting the malignancy of rectal cancer through targeting SLC29A3. | 5 |
| 32944792 | 2020 | Pediatric recurrent Rosai-Dorfman disease with germline heterozygous SLC29A3 and somatic MAP2K1 mutations. | 0 |
| 32738187 | 2020 | MiR-1224-5p acts as a tumor suppressor via inhibiting the malignancy of rectal cancer through targeting SLC29A3. | 5 |
| 32944792 | 2020 | Pediatric recurrent Rosai-Dorfman disease with germline heterozygous SLC29A3 and somatic MAP2K1 mutations. | 0 |
| 30517079 | 2019 | A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis. | 2 |
Citation
Dessen P
SLC29A3 (solute carrier family 29 member 3)
Atlas Genet Cytogenet Oncol Haematol. 2010-09-01
Online version: http://atlasgeneticsoncology.org/gene/51657
