COL2A1

Cilia effects upon perturbation of COL2A1

Ciliogenesis screen results (5 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
• Elliott et al. 2025 (CRISPRa) [CRISPRa]: Disassembly Trigger (casTLE Effect=-2.18) PMID:41160700

Phenotypes

Mouse phenotype:

edema, abnormal skin morphology, abnormal liver size, abnormal embryo size, abnormal zygomatic bone morphology, abnormal spleen morphology, abnormal tail morphology, abnormal embryo development, abnormal head size, cleft palate, abnormal body wall morphology, increased monocyte cell number, protruding tongue, abnormal maxilla morphology, respiratory system phenotype, no spontaneous movement, abnormal limb morphology

Mouse ciliopathy phenotype:

kyphosis, abnormal facial morphology, abnormal cranium morphology, abnormal head shape, abnormal heart morphology

Ciliopathy associations

• Spondylometaphyseal Dysplasia

Subcellular localization

cilia associated gene, lysosomes

Functional category

• Ciliary assembly/disassembly
• ECM & connective tissue

Function

Mutations in the COL2A1 gene cause Spondylometaphyseal Dysplasia (PMID: 38162154).

Model organism evidence