Aliases: NP220, ZFML, Zfp638
Chromosome No: 2
Chromosome Band: 2p13.2
Genetic Category: Rare single gene variant
ASD Reports: 4
Recent Reports: 0
Annotated variants: 8
Associated CNVs: 4
Evidence score: 3
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Relevance to Autism
ZNF638 was identified as an ASD candidate gene in Wilfert et al., 2021 based on the discovery of private likely gene-disruptive (LGD) variants in this highly constrained (pLI 0.99) gene that were exclusively transmitted to three ASD probands in three independent families and its interconnectedness with other ASD candidate genes in protein-protein interaction (PPI) networks in this report. A de novo missense variant in this gene had previously been identified in an ASD proband from the Autism Sequencing Consortium (De Rubeis et al., 2014).
Molecular Function
The protein encoded by this gene is a nucleoplasmic protein. It binds cytidine-rich sequences in double-stranded DNA. This protein has three types of domains: MH1, MH2 (repeated three times) and MH3. It is associated with packaging, transferring, or processing transcripts.
External Links
