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FLASH GENE
Symbol RELN contributors: mct - updated : 03-07-2017
HGNC name reelin
HGNC id 9957
ASSOCIATED DISORDERS
corresponding disease(s) LIS2 , ETL7
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional     --low  
in cortical GABAergic neurons of schizophrenic brain (by hypermethylation of the promoter)
tumoral     --over  
coordinate overexpression of CASK and RELN in carcinoma of esophagus
constitutional     --low  
impairs GABAergic Purkinje neuron expression and/or positioning during cerebellar development
constitutional     --low  
in the cerebral cortex and cerebellum of subjects with autism
Susceptibility
  • susceptibility factor for schizophrenia
  • susceptibility to autism
  • to otosclerosis
  • to Alzheimer disease
  • to Myoclonus-dystonia (M-D)
    • Variant & Polymorphism SNP
  • SNP in intron 59, and 5'-UTR repeat increasing the risk of autism
  • SNPs increasing the risk of otosclerosis
  • rs607755 genotypes increasing the risk of Alzheimer disease in females and not in males
  • rare missense variant Thr1904Met associated with Myoclonus-dystonia (M-D)
    • Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS
  • Reln homozygous mutations in mouse result ataxia and disrupted cortical layers (
  • Loss of Reelin function in humans results in the severe developmental disorder lissencephaly and it has also been associated with other neurological disorders such as epilepsy, schizophrenia and Alzheimer's disease (
  • Reln(+/-) knockout show neuronal migration defects that recapitulate the ones observed in the neocortex, hippocampus and cerebellum of the reeler mouse (
  • mice lacking EphB1 and EphB2 display a positioning defect of CA3 hippocampal pyramidal neurons, similar to that in Reelin-deficient mice, and this cell migration defect depends on the kinase activity of EphB proteins