ASTN2

Chr 9

astrotactin 2

Also known as: bA67K19.1

NCBI Gene: 23245 ENSG00000148219 UniProt: O75129 OMIM: 612856

This protein mediates recycling of the neuronal cell adhesion molecule ASTN1 and selectively binds phosphoinositides, functioning in neuronal migration during brain development. Mutations cause autosomal dominant neurodevelopmental disorders including intellectual disability, autism spectrum disorder, and schizophrenia. The gene is highly constrained against loss-of-function variants, indicating that even heterozygous mutations can cause significant clinical phenotypes.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a protein that is expressed in the brain and may function in neuronal migration, based on functional studies of the related astrotactin 1 gene in human and mouse. A deletion at this locus has been associated with schizophrenia. Multiple transcript variants encoding different proteins have been found for this locus. [provided by RefSeq, May 2010]

GeneReviews 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)

—

P/LP submissions

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P/LP missense

0.25

LOEUF· LoF intol.

LOF

Mechanism· predicted

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GeneReview available — ASTN2