Identity
HGNC
LOCATION
14q31.3
LOCUSID
ALIAS
HEL-S-296,HSD-3.1,HSD3,LCA3
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: 55812
MIM: 609868
HGNC: 20423
Ensembl: ENSG00000042317
Variants:
dbSNP: 55812
ClinVar: 55812
TCGA: ENSG00000042317
COSMIC: SPATA7
RNA/Proteins
Expression (GTEx)
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 37164434 | 2023 | SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland. | 0 |
| 37164434 | 2023 | SPATA7-Associated Juvenile Retinitis Pigmentosa in Two Brothers from a Consanguineous Iraqi Family in Switzerland. | 0 |
| 31908400 | 2019 | Spectrum, frequency, and genotype-phenotype of mutations in SPATA7. | 4 |
| 31908400 | 2019 | Spectrum, frequency, and genotype-phenotype of mutations in SPATA7. | 4 |
| 28481129 | 2018 | Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. | 3 |
| 29411205 | 2018 | Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. | 2 |
| 28481129 | 2018 | Novel homozygous mutation in the SPATA7 gene causes autosomal recessive retinal degeneration in a consanguineous German family. | 3 |
| 29411205 | 2018 | Phenotypic expansion and progression of SPATA7-associated retinitis pigmentosa. | 2 |
| 26854980 | 2016 | SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. | 7 |
| 26854980 | 2016 | SPATA7: Evolving phenotype from cone-rod dystrophy to retinitis pigmentosa. | 7 |
| 25398945 | 2015 | Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. | 34 |
| 25814828 | 2015 | Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. | 5 |
| 25398945 | 2015 | Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. | 34 |
| 25814828 | 2015 | Novel homozygous large deletion including the 5' part of the SPATA7 gene in a consanguineous Israeli Muslim Arab family. | 5 |
| 21310915 | 2011 | Screening of SPATA7 in patients with Leber congenital amaurosis and severe childhood-onset retinal dystrophy reveals disease-causing mutations. | 25 |
Citation
Dessen P
SPATA7 (spermatogenesis associated 7)
Atlas Genet Cytogenet Oncol Haematol. 2003-05-01
Online version: http://atlasgeneticsoncology.org/gene/42371/spata7
