IQCE
IQ motif containing E
- Ensembl:
- ENSG00000106012
- UniProt:
- Q6IPM2
- OMIM:
- 617631
- Synonyms:
- KIAA1023
Cilia effects upon perturbation of IQCE
Ciliogenesis screen results (4 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-1.46) PMID:29459680
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=154, lfc=-3.26) PMID:30270045
- Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.01) PMID:41160700
Phenotypes
- Mouse phenotype:
- decreased total reti thickness, tremors, increased mean corpuscular volume, increased neutrophil cell number, increased circulating phosphate level, abnormal locomotor behavior, decreased lymphocyte cell number, decreased circulating serum albumin level, decreased circulating glucose level
- Mouse ciliopathy phenotype:
- short tibia
- Human ciliopathy phenotype:
- postaxial polydactyly type A; polydactyly, postaxial, type a7
Ciliopathy associations
- Postaxial Polydactyly
Subcellular localization
cilia, flagella
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
- Ciliary membrane
Function
Form a complex with EFCAB7. It anchors the EVC- EVC2 complex to positively regulate the Hh pathway (24582806)