HELP     Sign In
Search

Relevance to Autism

Gromova et al., 2018 reported that KIF21B, in conjunction with NBEA, regulates the cell surface expression of GluN2B-containing NMDARs, and that KIF21B-null mice exhibited decreased social approach and impaired social recognition. KIF21B-null mice had previously been shown to display deficits in learning and memory (Muhia et al., 2016) and hypoplasia of the corpus callosum (Kannan et al., 2017).

Molecular Function

Plus-end directed microtubule-dependent motor protein which displays processive activity. Is involved in regulation of microtubule dynamics, synapse function and neuronal morphology, including dendritic tree branching and spine formation. Plays a role in lerning and memory. Involved in delivery of gamma-aminobutyric acid (GABA(A)) receptor to cell surface.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Neurobeachin and the Kinesin KIF21B Are Critical for Endocytic Recycling of NMDA Receptors and Regulate Social Behavior.
Support
Integrating de novo and inherited variants in 42
ASD
Support
Exploring the biological role of postzygotic and germinal de novo mutations in ASD
ASD
Support
Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes
ASD
Support
Whole genome sequencing and variant discovery in the ASPIRE autism spectrum disorder cohort.
ASD
Support
WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy.
Support
The Kinesin KIF21B Regulates Microtubule Dynamics and Is Essential for Neuronal Morphology, Synapse Function, and Learning and Memory.

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN1018R001 
 missense_variant 
 c.1447C>T 
 p.Arg483Trp 
 Unknown 
  
 Simplex 
 GEN1018R002 
 missense_variant 
 c.3647C>T 
 p.Pro1216Leu 
 De novo 
  
  
 GEN1018R003 
 missense_variant 
 c.4129C>T 
 p.Arg1377Trp 
 De novo 
  
 Simplex 
 GEN1018R004 
 missense_variant 
 c.4694G>A 
 p.Arg1565His 
 De novo 
  
  
 GEN1018R005 
 missense_variant 
 c.4401G>C 
 p.Gln1467His 
 De novo 
  
  
 GEN1018R006 
 splice_site_variant 
 c.447+1G>A 
  
 De novo 
  
  

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
1
Duplication
 44
 
1
Duplication
 1
 
1
Deletion-Duplication
 19
 

No Animal Model Data Available

 

No Interactions Available
HELP
Copyright © 2017 MindSpec, Inc.