CD99L2
Homo sapiens
Gene Name: CD99 molecule like 2
Aliases: UNQ1964/PRO4486, CD99B, DKFZp761H2024, MIC2L1
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Genetic association
Aliases: UNQ1964/PRO4486, CD99B, DKFZp761H2024, MIC2L1
Chromosome No: X
Chromosome Band: Xq28
Genetic Category: Genetic association
Summary Statistics:
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 11
Evidence score: null
ASD Reports: 1
Recent Reports: 0
Annotated variants: 2
Associated CNVs: 11
Evidence score: null
| Associated Disorders: |
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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
