NAALADL2
Homo sapiens
Gene Name: N-acetylated alpha-linked acidic dipeptidase-like 2
Aliases:
Chromosome No: 3
Chromosome Band: 3q26.31
Genetic Category: Genetic association-Rare single gene variant
Aliases:
Chromosome No: 3
Chromosome Band: 3q26.31
Genetic Category: Genetic association-Rare single gene variant
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 10
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 7
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
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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
Support
Optical genome mapping unveils hidden structural variants in neurodevelopmental disorders
DD, ID
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
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
