Aliases: BM-005, MYP21, NatF, ZEP-2
Chromosome No: 1
Chromosome Band: 1p22.2
Genetic Category: Rare single gene variant-Rare single gene variant/Functional
ASD Reports: 5
Recent Reports: 1
Annotated variants: 5
Associated CNVs: 1
Evidence score: 3
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Relevance to Autism
Chen et al., 2025 integrated cortex cell-specific cis-regulatory element annotations, a deep learning-based variant prediction model, and massively parallel reporter assays to systematically evaluate the functional impact of 227,878 non-coding de novo mutations (ncDNMs) in ASD probands from Simons Simplex Collection (SSC) and Autism Speaks MSSNG resource (MSSNG) cohorts and identified a ncDNM that down-regulated expression of the ZNF644 gene in a MSSNG proband. A de novo loss-of-function variant and a de novo missense variant have also been identified in the ZNF644 gene in ASD probands (Iossifov et al., 2014; Tan et al., 2024).
Molecular Function
The protein encoded by this gene is a zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia (MYP21; OMIM 614167).
External Links
