SLIT2

Chr 4

slit guidance ligand 2

Also known as: SLIL3, Slit-2

NCBI Gene: 9353 ENSG00000145147 UniProt: O94813 OMIM: 603746

This gene encodes SLIT2, a secreted glycoprotein that functions as a molecular guidance cue for axonal navigation and neuronal migration during brain and spinal cord development, particularly at the ventral midline. Mutations cause autosomal dominant congenital diaphragmatic hernia and other developmental anomalies. The gene is highly constrained against loss-of-function variants, indicating mutations are likely to have significant clinical consequences.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the slit family of secreted glycoproteins, which are ligands for the Robo family of immunoglobulin receptors. Slit proteins play highly conserved roles in axon guidance and neuronal migration and may also have functions during other cell migration processes including leukocyte migration. Members of the slit family are characterized by an N-terminal signal peptide, four leucine-rich repeats, nine epidermal growth factor repeats, and a C-terminal cysteine knot. Proteolytic processing of this protein gives rise to an N-terminal fragment that contains the four leucine-rich repeats and five epidermal growth factor repeats and a C-terminal fragment that contains four epidermal growth factor repeats and the cysteine knot. Both full length and cleaved proteins are secreted extracellularly and can function in axon repulsion as well as other specific processes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

OMIM 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)

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P/LP submissions

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P/LP missense

0.16

LOEUF· LoF intol.

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Mechanism