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Relevance to Autism

This gene was originally identified as an ASD candidate gene based on its enrichment in an autism-associated protein interaction module; sequencing of post-mortem brain tissue from 25 ASD cases resulted in the identification of significant non-synonymous variants in this gene with an expected false-positive rate at 0.1, confirming the involvement of this module with autism (Li et al., 2014).

Molecular Function

This protein mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ions may pass in accordance with their electrochemical gradient. Mutations in this gene are associated with progressive familial heart block 1A (PFHB1A) [MIM:113900] and long QT syndrome 3 (LQT3) [MIM:603830].

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Integrated systems analysis reveals a molecular network underlying autism spectrum disorders.
ASD
Support
Mutations in ASH1L confer susceptibility to Tourette syndrome.
TS
Support
The contribution of de novo coding mutations to autism spectrum disorder.
ASD

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN695R001 
 missense_variant 
  
  
 Unknown 
  
 Unknown 
 GEN695R002 
 missense_variant 
  
  
 Unknown 
  
 Unknown 
 GEN695R003 
 missense_variant 
 c.1036G>A 
 p.Glu346Lys 
 De novo 
 NA 
 Simplex 
 GEN695R004 
 missense_variant 
 c.5227G>A 
 p.Gly1743Arg 
 De novo 
 NA 
 Simplex 

Common

No Common Variants Available
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Duplication
 1
 

No Animal Model Data Available


Interactor Symbol Interactor Name Interactor Organism Entrez ID Uniprot ID Interaction Type Evidence Reference
SNTG2 syntrophin, gamma 2 54221 Q9NY99 Y2H; GST
Ou Y , et al. 2002
Fgf12 fibroblast growth factor 12 14167 P61329 in vitro binding assay
Musa H , et al. 2015
Fgf13 fibroblast growth factor 13 14168 P70377 in vitro binding assay; IP/WB; ITC
Musa H , et al. 2015
Fgf14 fibroblast growth factor 14 14169 P70379 in vitro binding assay
Musa H , et al. 2015
ANK3 ankyrin 3, node of Ranvier 361833 O70511 GST; Overlay binding assay; IP/WB
Mohler PJ , et al. 2004

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