ZNF396

Chr 18

zinc finger protein 396

Also known as: ZSCAN14

NCBI Gene: 252884 ENSG00000186496 UniProt: Q96N95 OMIM: 609600

ZNF396 encodes a transcriptional repressor that binds DNA and negatively regulates gene transcription through protein homo- and heterodimerization. Mutations cause autosomal recessive developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, refractory seizures, and developmental regression. The gene is not highly constrained against loss-of-function variants in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Enables protein heterodimerization activity; protein homodimerization activity; and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of DNA-templated transcription. Located in cytoplasm and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.12

LOEUF

Multiple*

Mechanism· predicted