CIB2

calcium and integrin binding family member 2

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000136425
UniProt:
O75838
OMIM:
605564
Synonyms:
DFNB48, KIP2, USH1J

Ciliogenesis screen results (3 screens)

  • 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:
decreased prepulse inhibition, limb grasping, increased basophil cell number, abnormal startle reflex, decreased startle reflex, increased circulating triglyceride level, increased circulating cholesterol level, increased circulating fructosamine level, abnormal ear morphology, tremors, increased circulating hdl cholesterol level
Human ciliopathy phenotype:
hearing loss, autosomal recessive

Ciliopathy associations

  • Usher Syndrome

References: PMID:25404053, PMID:30531642

Subcellular localization

cilia, transition zone

References: PMID:41005307, PMID:37427378, PMID:23023331

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

ADGRV1 and CIB2 interact and localize to the ciliary region of photoreceptor cells(37427378).