ZIC2

Zic family member 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000043355
UniProt:
O95409
OMIM:
603073
Synonyms:
HPE5

Cilia effects upon perturbation of ZIC2

Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (6 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.86) 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]: Positive Regulator (Hh signaling, neg_rank=625, lfc=-1.43) PMID:30270045
  • Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-3.85) PMID:41160700

Subcellular localization

basal body, cilia, nucleus

References: PMID:24585447, PMID:29992973, PMID:29243319

Functional category

  • Ciliary assembly/disassembly
  • Cardiac & muscle development
  • Transcription regulation

Function

Transcription factor. Directs the formation and function of node cilia to control cardiac situs in mice. Component of the gene regulatory network that drives ciliation of node cells during gastrulation in mice. 24585447 Contributes to establishment of LR asymmetry by regulating left-sided nodal expression in mice 29992973. Involved in dorsal neural tube formation in zebrafish and mice, downregulated in zebrafish Rfx4 mutants (29243319). Heterozygous frameshift mutations cause holoprosenchephaly in humans (OMIM: 603073).