CLCN4
chloride voltage-gated channel 4
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000073464
- UniProt:
- P51793
- OMIM:
- 302910
- Synonyms:
- CLC-4, CLC4
Ciliogenesis screen results (5 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-4.92) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
- Pusapati et al. 2018 (CRISPR) [CRISPR]: Negative Regulator (Hh signaling, pos_rank=766, lfc=0.69) PMID:30270045
- Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-6.52) PMID:41160700
Phenotypes
- Human ciliopathy phenotype:
- X-linked non-syndromic intellectual disability
Subcellular localization
basal body, cilia
References: PMID:26546361
Functional category
- Ciliary assembly/disassembly
- Signaling (Hedgehog, GPCRs, ion channels)
Function
Ion channel gene required for ciliogenesis.Mutations cause defects in cilia structure. Potential new candidate in human ciliopathies (26546361)