ULK2 Chromosome 17
Unc-51 like autophagy activating kinase 2
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What This Gene Does
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]
Gene Info
Gene Group
Autophagy related
Locus Type
gene with protein product
Location
17p11.2
Ensembl
ENSG00000083290
Associated Conditions (1)
Abnormal brain morphology
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1060499754 | Health Risk | Likely pathogenic | Abnormal brain morphology, Abnormal brain morphology |