ZNF263

Chr 16

zinc finger protein 263

Also known as: FPM315, ZKSCAN12, ZSCAN44

NCBI Gene: 10127 ENSG00000006194 UniProt: O14978 OMIM: 604191

ZNF263 encodes a transcription factor that binds to specific DNA sequences and regulates gene expression by both repressing and activating transcription of target genes including SIX3, HS3ST1, and HS3ST3A1. The gene is extremely intolerant to loss-of-function variants (pLI ~1.0), indicating that haploinsufficiency is likely not tolerated in humans. Pathogenic variants in ZNF263 cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay.

OMIM ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in negative regulation of transcription by RNA polymerase II and positive regulation of transcription by RNA polymerase II. Located in cytosol and nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.97

LOEUF

Multiple*

Mechanism· predicted