ULK4
Chr 3unc-51 like kinase 4
Also known as: FAM7C1, REC01035
This gene encodes a serine/threonine kinase that regulates cytoskeletal remodeling of alpha-tubulin, controlling neurite branching, elongation, and neuronal migration during development. Mutations cause neurodevelopmental disorders with intellectual disability and psychiatric manifestations including schizophrenia and bipolar disorder, with autosomal dominant inheritance. The gene is not highly constrained against loss-of-function variants, suggesting tolerance to such mutations.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
296 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 4 | 0 | 4 |
VUS | 0 | 179 | 11 | 0 | 190 |
Likely Benign | 1 | 16 | 8 | 13 | 38 |
Benign | 0 | 10 | 5 | 4 | 19 |
| Total | 1 | 205 | 35 | 17 | 258 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ULK4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools