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: 146167
MIM: 615585
HGNC: 32434
Ensembl: ENSG00000166558
Variants:
dbSNP: 146167
ClinVar: 146167
TCGA: ENSG00000166558
COSMIC: SLC38A8
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000166558 | ENST00000299709 | A6NNN8 |
| ENSG00000166558 | ENST00000568178 | H3BUP5 |
| ENSG00000166558 | ENST00000569816 | H3BP02 |
Expression (GTEx)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 35029636 | 2022 | The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences. | 6 |
| 35029636 | 2022 | The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences. | 6 |
| 33498813 | 2021 | Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia. | 7 |
| 33594928 | 2021 | Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. | 2 |
| 33498813 | 2021 | Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia. | 7 |
| 33594928 | 2021 | Genetic causes of nystagmus, foveal hypoplasia and subnormal visual acuity- other than albinism. | 2 |
| 32032626 | 2020 | The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. | 7 |
| 32744312 | 2020 | SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. | 18 |
| 32032626 | 2020 | The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. | 7 |
| 32744312 | 2020 | SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization. | 18 |
| 24045842 | 2014 | Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. | 22 |
| 24045842 | 2014 | Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation. | 22 |
| 24289273 | 2013 | Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study. | 11 |
| 24290379 | 2013 | Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. | 31 |
| 24289273 | 2013 | Gene-environment interaction effects on lung function- a genome-wide association study within the Framingham heart study. | 11 |
Citation
Dessen P
SLC38A8 (solute carrier family 38 member 8)
Atlas Genet Cytogenet Oncol Haematol. 2014-11-01
Online version: http://atlasgeneticsoncology.org/gene/73428/slc38a8-(solute-carrier-family-38-member-8)
