IMPG2

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:

abnormal eye morphology

Human ciliopathy phenotype:

retinitis pigmentosa; retinitis pigmentosa 56; autosomal recessive retinitis pigmentosa

Ciliopathy associations

• Retinal Dystrophy/Degeneration

References: PMID:40484299, PMID:20673862

Subcellular localization

cilia

References: PMID:31694913

Functional category

• Ciliary assembly/disassembly
• Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in IMPG2 are associated with retinitis pigmentosa and vitelliform macular dystrophy (20673862). When probed with an antibody raised to its C-terminal intracellular domain, IMPG2 immunoreactivity was mostly found within the ellipsoid and myoid zones of the inner segment in normal photoreceptors. In normal photoreceptors, CEP290 allows entry of outer segment-bound proteins while blocking that of inner segment proteins such as STX3, STXBP1, SNAP25, and IMPG2. In Cep290fl/fl,Cre+ retinas, however, a significant amount of IMPG2 immunoreactivity was detected in outer segments in addition to inner segments (31694913).