ZGPAT

Chr 20

zinc finger CCCH-type and G-patch domain containing

Also known as: GPATC6, GPATCH6, KIAA1847, ZC3H9, ZC3HDC9, ZIP

NCBI Gene: 84619 ENSG00000197114 UniProt: Q8N5A5 OMIM: 619577

ZGPAT encodes a transcription repressor that binds specific DNA sequences and recruits the NuRD chromatin complex to repress target gene expression, including negative regulation of EGFR signaling. Biallelic mutations cause autosomal recessive White-Sutton syndrome, characterized by intellectual disability, developmental delay, and distinctive facial features with typical onset in early childhood. The gene shows tolerance to loss-of-function variants (pLI 0.0004), consistent with the recessive inheritance pattern observed clinically.

OMIM ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of epidermal growth factor-activated receptor activity and negative regulation of transcription by RNA polymerase II. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.78

LOEUF

Mechanism· predicted