AlphaFold predicted structure
SPATA7 · Q9P0W8
Mean pLDDT
57.5/ 100
Low
599 residues
Confidence breakdown
- Very high(≥ 90)16%
- Confident(70–90)15%
- Low(50–70)14%
- Very low(< 50)55%
Open interactive 3D viewer
AlphaFold (Jumper et al., 2021) · CC BY 4.0
SPATA7
Chr 14q31.3spermatogenesis associated 7
- Aliases:
- HSD3
- MANE:
- ENST00000393545.9
Annotations refreshed 1 month ago.
Predicted protein structure
Clinical relevance (Genomics England PanelApp)
Diagnostic Grade (Green)
Retinal disorders
BIALLELIC, autosomal or pseudoautosomalGlaucoma (developmental)
Ophthalmological ciliopathies
Primary ciliary disorders
Rare multisystem ciliopathy disorders
Skeletal dysplasia
Structural eye disease
BIALLELIC, autosomal or pseudoautosomalThoracic dystrophies
Disease associations (Open Targets)
Leber congenital amaurosis
0.74Leber congenital amaurosis 3
0.73retinitis pigmentosa
0.61Retinal dystrophy
0.55retinitis pigmentosa 94, variable age at onset
0.50Stargardt disease
0.39severe early-childhood-onset retinal dystrophy
0.39inherited retinal dystrophy
0.37eye disorder
0.37Posterior column ataxia - retinitis pigmentosa
0.37
Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.
Protein function (UniProt)
Spermatogenesis-associated protein 7
Involved in the maintenance of both rod and cone photoreceptor cells (By similarity). It is required for recruitment and proper localization of RPGRIP1 to the photoreceptor connecting cilium (CC), as well as photoreceptor-specific localization of proximal CC proteins at the distal CC (By similarity). Maintenance of protein localization at the photoreceptor-specific distal CC is essential for normal microtubule stability and to prevent photoreceptor degeneration (By similarity)
Diseases associated with SPATA7
Curated MONDO disease pages that list SPATA7 among their top associated genes.