SSX2IP

SSX family member 2 interacting protein

Tier: Gold Standard Ciliary Genes

Ensembl:
ENSG00000117155
UniProt:
Q9Y2D8
OMIM:
608690
Synonyms:
HMSD1

Cilia effects upon perturbation of SSX2IP

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia
Overexpression effect:
Unknown

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 grip strength

Subcellular localization

basal body, centrosome, nucleus

References: PMID:41005307, PMID:24356449, PMID:24397932

Functional category

  • Ciliary assembly/disassembly
  • Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
  • Actin & cytoskeleton regulation
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Centriolar satellite and microtubule anchoring protein. Interacts with PCM-1. Essential for the assembly of primary cilia and the recruitment of Cep290 to both satellites and the basal body, it also promotes the ciliary entry of the entire BBSome. Knockdown limits targeting of somatostatin receptor 3, and significantly reduces axoneme length. Possible novel cooperator of Rab8 (24356449). Binds the microtubule-nucleator gamma- tubulin complex. Knockdown of its orthologue in zebrafish, results in ciliary defects and disturbs left-right asymmetry. Microtubule anchoring role to the basal body is required for primary cilia formation (24397932).