CRX

cone-rod homeobox

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000105392
UniProt:
O43186
OMIM:
602225
Synonyms:
CORD2, CRD, LCA7, OTX3

Ciliogenesis screen results (6 screens)

  • Kim2016: Not Reported
  • 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
  • Failler/Valderrama et al. 2021 (siRNA) [siRNA]: Negative Regulator (Ciliogenesis Candidate) PMID:33206585
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=4.74) PMID:20393562

Phenotypes

Mouse phenotype:
enlarged thymus, abnormal semil vesicle morphology, small thymus, abnormal thymus morphology, increased nk cell number, decreased exploration in new environment, increased fasting circulating glucose level, enlarged uriry bladder, abnormal skin morphology
Human ciliopathy phenotype:
Leber congenital amaurosis; retinitis pigmentosa; cone-rod dystrophy 2; Leber congenital amaurosis 7; autosomal dominant retinitis pigmentosa; cone-rod dystrophy

Subcellular localization

cilia, nucleus

References: PMID:41005307, PMID:37072495

Functional category

  • Ciliary assembly/disassembly
  • Transcription regulation

Function

CRX has localized in cilia. The gene causes Leber congenital amaurosis (LCA) (37072495)