SEPTIN2

Chr 2

septin 2

Also known as: DIFF6, NEDD-5, NEDD5, Pnutl3, SEPT2, Septin-2, hNedd5

NCBI Gene: 4735 ENSG00000168385 UniProt: Q15019

SEPTIN2 encodes a filament-forming cytoskeletal GTPase that is essential for actin cytoskeleton organization, mitotic spindle function, ciliogenesis, and sperm tail structural integrity. Mutations cause autosomal recessive primary ciliary dyskinesia with reduced generation of multiple motile cilia, presenting with respiratory symptoms, situs abnormalities, and male infertility. The gene shows significant constraint against loss-of-function variants (LOEUF 0.496), indicating that complete loss of function is likely deleterious.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Predicted to be involved in several processes, including cilium assembly; cytoskeleton-dependent cytokinesis; and smoothened signaling pathway. Predicted to act upstream of or within regulation of L-glutamate import across plasma membrane and regulation of protein localization. Located in several cellular components, including cytoskeleton; photoreceptor connecting cilium; and sperm annulus. Part of septin complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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