NETO2

Chr 16

neuropilin and tolloid like 2

Also known as: BTCL2, NEOT2

NCBI Gene: 81831 ENSG00000171208 UniProt: Q8NC67

The protein functions as an accessory subunit that modulates kainate-sensitive glutamate receptors by increasing channel activity and slowing decay kinetics, directly influencing synaptic transmission. Mutations cause autosomal recessive intellectual disability with seizures and macrocephaly. This gene is highly constrained against loss-of-function variants, suggesting that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

This gene encodes a predicted transmembrane protein containing two extracellular CUB domains followed by a low-density lipoprotein class A (LDLa) domain. A similar gene in rats encodes a protein that modulates glutamate signaling in the brain by regulating kainate receptor function. Expression of this gene may be a biomarker for proliferating infantile hemangiomas. A pseudogene of this gene is located on the long arm of chromosome 8. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2011]

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

0.49

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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