Aliases: GPR74, HLWAR77, NPFF2, NPGPR
Chromosome No: 4
Chromosome Band: 4q13.3
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 7
Recent Reports: 1
Annotated variants: 9
Associated CNVs: 9
Evidence score: 3
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Relevance to Autism
De novo variants in the NPFFR2 have been identified in ASD probands, including a de novo missense variant (p.Met163Ile) in a proband from the Simons Simplex Collection (Iossifov et al., 2014; Satterstrom et al., 2020), while a maternally-inherited loss-of-function variant in this gene was observed in two of three ASD-affected siblings from a multiplex family from the iHART cohort (Ruzzo et al., 2019). Functional assessment of the ASD-associated p.Met163Ile missense variant in Drosophila using an overexpression-based strategy in Macrogliese et al., 2022 demonstrated that flies overexpressing NPFFR2-p.Met163Ile failed to reduce the expected viability to the extent of the corresponding reference allele upon overexpression, indicating a loss-of-function effect.
Molecular Function
This gene encodes a member of a subfamily of G-protein-coupled neuropeptide receptors. This protein is activated by the neuropeptides A-18-amide (NPAF) and F-8-amide (NPFF) and may function in pain modulation and regulation of the opioid system.
External Links
