ZSCAN10

Chr 16

zinc finger and SCAN domain containing 10

Also known as: OFNS, ZFP206, ZNF206

NCBI Gene: 84891 ENSG00000130182 UniProt: Q96SZ4

The protein is an embryonic stem cell-specific transcription factor that maintains pluripotency by binding specific DNA sequences and regulating expression of key genes including POU5F1/OCT4. Mutations cause otofacial neurodevelopmental syndrome with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI near 1, LOEUF 0.733), indicating intolerance to complete protein loss.

ResearchSummary from RefSeq, OMIM, UniProt

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in negative regulation of DNA-templated transcription and regulation of transcription by RNA polymerase II. Predicted to be located in nucleoplasm. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtOtofacial neurodevelopmental syndrome

Clinical highlights

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.73

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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