IMPG2

Cilia effects upon perturbation of 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

Mouse ciliopathy phenotype:

increased circulating alanine transamise level

Human ciliopathy phenotype:

retinitis pigmentosa; retinitis pigmentosa 56; autosomal recessive retinitis pigmentosa

Ciliopathy associations

• Retinal Dystrophy/Degeneration

Subcellular localization

cilia

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-termi l 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, S P25, and IMPG2. In Cep290fl/fl,Cre+ reti s, however, a significant amount of IMPG2 immunoreactivity was detected in outer segments in addition to inner segments (31694913).

Model organism evidence