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Relevance to Autism

De novo variants in the KATNAL2 gene was been identified in autistic probands from simplex families in two separate reports (Sanders et al., 2012; O'Roak et al., 2012).

Molecular Function

Severs microtubules in vitro in an ATP-dependent manner. This activity may promote rapid reorganization of cellular microtubule arrays

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
ASD
Support
Whole-genome sequencing of quartet families with autism spectrum disorder.
ASD
Support
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
ASD
Support
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
ASD
Recent recommendation
A Retroviral CRISPR-Cas9 System for Cellular Autism-Associated Phenotype Discovery in Developing Neurons.
Recent recommendation
Low load for disruptive mutations in autism genes and their biased transmission.
ASD
Recent recommendation
Synaptic, transcriptional and chromatin genes disrupted in autism.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN369R001 
 splice_site_variant 
 c.510+1G>A 
  
 De novo 
  
 Simplex 
 GEN369R002 
 splice_site_variant 
  
  
 De novo 
  
 Simplex 
 GEN369R003 
 frameshift_variant 
 del(G) 
  
 Familial 
 Maternal 
 Simplex 
 GEN369R004 
 missense_variant 
 c.310C>T 
 p.Arg104Trp 
 Familial 
 Paternal 
 Simplex 
 GEN369R005 
 frameshift_variant 
 AC/A 
  
 Unknown 
  
 Unknown 
 GEN369R006 
 splice_site_variant 
 c.673+1G>A 
  
 Unknown 
  
 Unknown 
 GEN369R007 
 stop_gained 
 c.436C>T 
 p.Arg146Ter 
 Unknown 
  
 Unknown 
 GEN369R008 
 missense_variant 
 c.730T>C 
 p.Phe244Leu 
 Unknown 
  
 Unknown 
 GEN369R009 
 missense_variant 
 c.428G>A 
 p.Arg143Gln 
 Unknown 
  
 Unknown 
 GEN369R010 
 missense_variant 
 c.740C>T 
 p.Ala248Val 
 Unknown 
  
 Unknown 
 GEN369R011 
 missense_variant 
 c.1022G>A 
 p.Arg341His 
 Unknown 
  
 Unknown 
 GEN369R012 
 missense_variant 
 c.1045G>A 
 p.Asp349Asn 
 Unknown 
  
 Unknown 
 GEN369R013 
 missense_variant 
 c.907C>T 
 p.Arg303Trp 
 Unknown 
  
 Unknown 
 GEN369R014 
 stop_gained 
 c.157C>T 
 p.Gln53Ter 
 Familial 
 Maternal 
 Multiplex 
 GEN369R015 
 frameshift_variant 
 c.429del 
 p.Ser144GlnfsTer5 
 De novo 
  
  
 GEN369R016 
 missense_variant 
 c.727T>C 
 p.Phe243Leu 
 De novo 
  
  

Common

No Common Variants Available



No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
DDX1 DEAD (Asp-Glu-Ala-Asp) box helicase 1 1653 A3RJH1 IP; MS
Havugimana PC , et al. 2012
HTATSF1 HIV-1 Tat specific factor 1 27336 O43719 IP; MS
Havugimana PC , et al. 2012
STRIP1 striatin interacting protein 1 85369 Q5VSL9 IP; MS
Havugimana PC , et al. 2012

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