ZNF213

Chr 16

zinc finger protein 213

Also known as: CR53, ZKSCAN21, ZSCAN53

NCBI Gene: 7760 ENSG00000085644 UniProt: O14771 OMIM: 608387

ZNF213 encodes a C2H2 zinc finger protein that binds DNA or RNA and modulates target gene expression as a transcriptional regulator. Mutations cause autosomal dominant developmental and epileptic encephalopathy with onset in infancy, characterized by severe intellectual disability, epilepsy, and developmental delays. The gene shows minimal constraint against loss-of-function variants, with clinical manifestations primarily affecting the central nervous system.

OMIM ResearchSummary from RefSeq, UniProt

C2H2 zinc finger proteins, such as ZNF213, have bipartite structures in which one domain binds DNA or RNA and the other modulates target gene expression.[supplied by OMIM, Apr 2004]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.05

LOEUF

Multiple*

Mechanism· predicted