Aliases: 4Ig-B7-H3, B7-H3, B7H3, B7RP-2
Chromosome No: 15
Chromosome Band: 15q24.1
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 9
Evidence score: 2
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Relevance to Autism
Targeted sequencing of a cohort of 536 Chinese ASD probands and 1457 Chinese controls in Guo et al., 2017 identified three inherited loss-of-function variants in the CD276 gene in ASD probands. Transmission and De Novo Association (TADA) analysis of this cohort of Chinese ASD cases and controls in Guo et al., 2017 identified the CD276 gene as an ASD candidate gene with a PTADA between 0.001 and 0.005 (0.009505); however, PTADA for this gene failed to reach significance (P < 0.01) following TADA analysis using a combined cohort of Chinese ASD probands and controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium.
Molecular Function
The protein encoded by this gene belongs to the immunoglobulin superfamily, and thought to participate in the regulation of T-cell-mediated immune response; it could also play a key role in providing the placenta and fetus with a suitable immunological environment throughout pregnancy.
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