ULK2

Chr 17

unc-51 like autophagy activating kinase 2

Also known as: ATG1B, Unc51.2

NCBI Gene: 9706 ENSG00000083290 UniProt: Q8IYT8

The protein is a serine/threonine kinase that regulates autophagy in response to starvation and plays a critical role in early neuronal differentiation and granule cell axon formation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in early childhood with seizures, developmental delays, and neurological dysfunction. This gene is highly constrained against loss-of-function variants in the population, indicating that complete loss of function is likely not tolerated.

ResearchSummary from RefSeq, UniProt

This gene encodes a protein that is similar to a serine/threonine kinase in C. elegans which is involved in axonal elongation. The structure of this protein is similar to the C. elegans protein in that both proteins have an N-terminal kinase domain, a central proline/serine rich (PS) domain, and a C-terminal (C) domain. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2008]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.59

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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