Aliases: SPP-244,SPP2
Chromosome No: 2
Chromosome Band: 2q37.1
Genetic Category: Rare single gene variant-
ASD Reports: 4
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 7
Evidence score: 2
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Relevance to Autism
A de novo frameshift variant in the SPP2 gene was observed in an ASD proband with positive family history in Neale et al., 2012. Rare inherited loss-of-function variants in this gene were identified in ASD probands from the Simons Simplex Collection in Krumm et al., 2015. 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 SPP2 as an ASD candidate gene with a PTADA of 0.000855.
Molecular Function
This gene encodes a secreted phosphoprotein that is a member of the cystatin superfamily that could coordinate an aspect of bone turnover.
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