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FLASH GENE
Symbol ULK4 contributors: mct - updated : 19-10-2016
HGNC name unc-51 like kinase 4
HGNC id 15784
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Nervousbrain   predominantly Homo sapiens
cells
SystemCellPubmedSpeciesStageRna symbol
Nervousependymal cell Homo sapiens
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
HOMOLOGY
Homologene
FAMILY
CATEGORY
SUBCELLULAR LOCALIZATION
basic FUNCTION
  • involvement of ULK4 in the control of the neuroendocrine homeostatic functions in the brain
  • plays a vital role in ciliogenesis and deficiency of ULK4 can cause hydrocephalus and ciliopathy-related disorders
  • plays a key modulatory role in corticogenesis
  • plays an essential role in normal brain development and when defective, the risk of neurodevelopmental disorders such as schizophrenia is increased
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
  • modulates expression of the master regulator of ciliogenesis, FOXJ1, and other ciliogenesis molecules
  • also regulated acetylation of alpha-tubulin, an important post-translational modification of microtubules
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    may be implicated in human hydrocephalus and other ciliopathy-related disorders
    constitutional   deletion    
    hemizygous deletion of ULK4 gene in 1.2/1,000 patients with pleiotropic symptoms including severe language delay and learning difficulties
    constitutional   deletion    
    were significantly associated with development of thoracic aortic disease
    Susceptibility
  • to major mental disorders including schizophrenia
  • to sporadic thoracic aortic dissection (STAD)
  • Variant & Polymorphism
  • rare risk factor for major mental disorders including schizophrenia
  • SNPs in ULK4 were identified to be significantly associated with STAD
  • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Ulk4(tm1a/tm1a) mice exhibit dysfunctional subcommissural organs, obstructive aqueducts, and impaired CSF flow