FBN2

Cilia effects upon perturbation of FBN2

Ciliogenesis screen results (4 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

Phenotypes

Mouse phenotype:

abnormal vertebral arch morphology, abnormal tibia morphology, decreased grip strength, abnormal clavicle morphology, abnormal digit morphology, abnormal pelvic girdle bone morphology, abnormal heart weight, abnormal il morphology, abnormal eye morphology, abnormal radius morphology, decreased circulating amylase level, abnormal skin morphology, abnormal femur morphology, abnormal rib morphology, abnormal bone structure, abnormal autopod morphology, abnormal zygomatic bone morphology, abnormal mandible morphology, prolonged st segment, abnormal humerus morphology, abnormal gait, decreased body length, decreased anxiety-related response, abnormal fibula morphology, thrombocytopenia, cornea opacity, vertebral fusion, abnormal tail morphology, abnormal ul morphology, abnormal optic disk morphology, abnormal joint morphology, increased circulating alkaline phosphatase level, syndactyly, cornea vascularization, increased bone mineral content, hyperactivity

Mouse ciliopathy phenotype:

abnormal kidney morphology, enlarged heart, abnormal liver morphology, abnormal heart morphology, abnormal brain morphology, abnormal cranium morphology

Subcellular localization

cilia

Functional category

• Ciliary assembly/disassembly
• Cell migration & adhesion
• Signaling (Hedgehog, GPCRs, ion channels)

Function

FBN2 has localized in cilia.

Model organism evidence