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Relevance to Autism

Family-based tests of association computed on the 22,904 single nucleotide polymorphisms (SNPs) from the 2,012 immune-related genes on 1,510 trios available at the Autism Genetic Resource Exchange (AGRE) repository revealed that several SNPs in immune-related genes remained statistically significantly associated with ASD after adjusting for multiple comparisons. Specifically, a significant association in the CD99 molecule-like 2 region (CD99L2, rs11796490, P = 4.01 x 10-06, OR = 0.68 (0.58-0.80)) was observed (Ramos et al., 2012).

Molecular Function

This gene encodes a cell-surface protein that is similar to CD99. A similar protein in mouse functions as an adhesion molecule during leukocyte extravasation.

External Links

        

References

Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Immune function genes CD99L2, JARID2 and TPO show association with autism spectrum disorder.
ASD

Rare

No Rare Variants Available

Common

Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
 GEN380C001 
 intron_variant 
 rs7880807 
 c.67+6949C>T 
 minor allele, A 
 AGRE 
 Discovery 
 GEN380C002 
 intron_variant 
 rs11796490 
 c.67+8836T>C 
 minor allele, G 
 AGRE 
 Discovery 
Chromosome
CNV Locus
CNV Type
# of studies
Animal Model
X
Deletion
 1
 
X
Duplication
 1
 
X
Deletion-Duplication
 18
 
X
Deletion
 2
 
X
Deletion
 1
 
X
Deletion
 1
 
X
Deletion-Duplication
 1
 
X
Deletion
 2
 
X
Deletion-Duplication
 1
 
X
Deletion
 7
 
X
Deletion-Duplication
 65
 

No Animal Model Data Available

 

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