Aliases: CD279, PD-1, PD1, SLEB2, hPD-1, hPD-l, hSLE1
Chromosome No: 2
Chromosome Band: 2q37.3
Genetic Category: Rare single gene variant-
ASD Reports: 4
Recent Reports: 1
Annotated variants: 3
Associated CNVs: 6
Evidence score: 2
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Relevance to Autism
A de novo frameshift variant and a de novo missense variant in the PDCD1 gene were identified in ASD probands from the Simons Simplex Collection (O'Roak et al., 2012; Iossifov et al., 2014). Transmission and De Novo Association (TADA) analysis of a combined cohort consisting of 536 Chinese ASD probands and 1457 Chinese controls, as well as ASD probands and controls from the Simons Simplex Collection and the Autism Sequencing Consortium, in Guo et al., 2017 identified PDCD1 as an ASD candidate gene with a PTADA of 0.001143.
Molecular Function
This gene encodes a cell surface membrane protein of the immunoglobulin superfamily. This protein is expressed in pro-B-cells and is thought to play a role in their differentiation. Inhibitory cell surface receptor involved in the regulation of T-cell function during immunity and tolerance. Upon ligand binding, inhibits T-cell effector functions in an antigen-specific manner. Possible cell death inducer, in association with other factors.
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