SEPTIN6

septin 6

Tier: Gold Standard Ciliary Genes

Ensembl:: ENSG00000125354
UniProt:: Q14141
OMIM:: 300683
Synonyms:: KIAA0128, MGC16619, MGC20339, SEP2, SEPT2, SEPT6, SEPTIN-6

Cilia effects upon perturbation of SEPTIN6

Loss-of-function effect:: Longer cilia

Ciliogenesis screen results (1 screens)

Kim et al. 2010 (siRNA) [siRNA]: Shorter Cilia (Area per Cilia z=-2.67) PMID:20393562

Phenotypes

Mouse phenotype:: increased circulating alkaline phosphatase level

Subcellular localization

basal body, cilia

References: PMID:41005307, PMID:24469395

Functional category

Ciliary assembly/disassembly
Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Actin & cytoskeleton regulation
Reproduction & sperm

Function

Associates with acetylated α- tubulin and controls ciliogenesis. Knockdown results in aberrant cilium formation. Required for left- right patterning of visceral organs in zebrafish by controlling nodal signaling and through KV ciliogenesis. Sept6 is also required for ciliogenesis in the neural tube (24469395).

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