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).