SPATA7
spermatogenesis associated 7
- Ensembl:
- ENSG00000042317
- UniProt:
- Q9P0W8
- OMIM:
- 609868
- Synonyms:
- HSD3, LCA3
Cilia effects upon perturbation of SPATA7
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (3 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Mouse phenotype:
- decreased grip strength, decreased fasting circulating glucose level
- Mouse ciliopathy phenotype:
- abnormal reti morphology
- Human ciliopathy phenotype:
- Leber congenital amaurosis 3; Leber congenital amaurosis; retinitis pigmentosa; retinitis pigmentosa 94, variable age at onset
Ciliopathy associations
- Cone-Rod Dystrophy
- Leber Congenital Amaurosis
- Retinal Dystrophy/Degeneration
Subcellular localization
cilia
Functional category
- Ciliary assembly/disassembly
- Reproduction & sperm
- Signaling (Hedgehog, GPCRs, ion channels)
- Transition zone
Function
Expressed in spermatocytes and in the mature reti . Mutations have been associated with Leber Congenital Amaurosis and Retinitis Pigmentosa (19268277). Component of a protein complex which interacts with CETN2 and CETN3 to stabilise the photoreceptor distal connecting cilium and proximal OS axoneme (30647131). Interacts with photoreceptor-specific ciliary proteins RPGR and RPGRIP1 to maintain distal connecting cilium (DCC) structure, it also regulares protein localization into the DCC (29899041).