SHANK3

SH3 and multiple ankyrin repeat domains 3

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000251322
OMIM:: 606230
Synonyms:: KIAA1650, PROSAP2, PSAP2, SPANK-2

Phenotypes

Mouse phenotype:: decreased circulating calcium level

Subcellular localization

cilia, Nucleoplasm, Plasma membrane

References: PMID:39677731

Function

We also confirmed ciliary localizations for SYNGAP1, STXBP1, PSD95, SCN2A, SLC6A1, and SHANK3 by antibody staining in rat brain cells (Fig. 3C, S8C, S9A). Together, these results suggest that autism proteins with annotated functions in neuronal communication also localize to cilia and therefore may share a previously unrecognized common function at this structure(39677731). Antibody staining in rat brain cells confirms ciliary localization of SHANK3 (Kostyanovskaya et al., 2025, bioRxiv, PMID 39677731).

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