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Relevance to Autism

Two intronic SNPS within the NAALADL2 gene showed association with ASD in a case-control analysis in the Taiwanese Han population (Kuo et al., 2015).

Molecular Function

This gene encodes a single-pass type II membrane protein that may be catalytically inactive.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Genome-Wide Association Study for Autism Spectrum Disorder in Taiwanese Han Population.
ASD
Support
Phenotype-to-genotype approach reveals head-circumference-associated genes in an autism spectrum disorder cohort.
ASD
Macrocephaly

Rare

Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
 GEN777R001 
 stop_gained 
 c.1465C>T 
 p.Arg489Ter 
 Familial 
 Maternal 
 Simplex 

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN777C001 
 intron_variant 
 rs3914502 
 c.-9+109066T>A;c.-9+109066T>G 
  
 315 ASD cases, 1115 healthy controls (Taiwanese Han) 
 Discovery 
 GEN777C002 
 intron_variant, 2KB_upstream_variant 
 rs2222447 
 c.43+3586T>G;c.-9+125290T>G;c.-1033T>G 
  
 315 ASD cases, 1115 healthy controls (Taiwanese Han) 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Duplication
 1
 
3
Duplication
 1
 
3
Duplication
 2
 
3
Deletion-Duplication
 20
 
3
Deletion
 2
 
3
Duplication
 1
 

No Animal Model Data Available

 

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