ZNF316

Chr 7

zinc finger protein 316

Also known as: MZF-3

NCBI Gene: 100131017 ENSG00000205903 UniProt: A6NFI3

ZNF316 encodes a zinc finger transcription factor that binds DNA and regulates gene transcription by RNA polymerase II in the nucleus. Mutations cause autosomal recessive neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and developmental delay. The disorder typically presents in infancy with seizures and affects multiple systems including the nervous system and eyes.

ResearchSummary from RefSeq, UniProt

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

ResearchGenerating clinical summary…

Clinical Summary— ZNF316

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ClinVar Variants

11 total variants — no pathogenic classifications of 11 total submissions

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Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

11 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Benign2

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Synonymous	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	0	0
Likely Benign	2	2
Benign	0	0
Total	2	2

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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34 pathogenic / likely-pathogenic (of 46) ClinVar copy-number / structural variants overlap ZNF316 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →