SPATA7

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

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

References: PMID:21310915, PMID:26854980, PMID:37240262, PMID:25398945, PMID:19268277, PMID:29411205

Subcellular localization

cilia, transition zone

References: PMID:41005307, PMID:30647131, PMID:29899041

Functional category

• Ciliary assembly/disassembly
• Reproduction & sperm
• Signaling (Hedgehog, GPCRs, ion channels)
• Transition zone

Function

Expressed in spermatocytes and in the mature retina. 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).