ZNF16

Chr 8

zinc finger protein 16

NCBI Gene: 7564 ENSG00000170631 UniProt: P17020 OMIM: 601262

This gene encodes a zinc finger transcriptional activator that promotes cell proliferation and facilitates erythroid and megakaryocytic cell differentiation while inhibiting apoptosis. The gene shows no constraint against loss-of-function variants (very low pLI score), suggesting that ZNF16 mutations may not cause severe developmental disorders. No well-established Mendelian diseases have been definitively linked to ZNF16 mutations in current clinical databases.

OMIM ResearchSummary from RefSeq, UniProt

Acts as a transcriptional activator. Promotes cell proliferation by facilitating the cell cycle phase transition from the S to G2/M phase. Involved in both the hemin- and phorbol myristate acetate (PMA)-induced erythroid and megakaryocytic differentiation, respectively. Also plays a role as an inhibitor of cell apoptosis

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.25

LOEUF

Multiple*

Mechanism· predicted