ZNF516
Chr 18zinc finger protein 516
Also known as: HsT287
This protein functions as a transcriptional regulator that activates genes involved in brown adipose tissue differentiation and thermogenesis, and may play a role in cellular response to replication stress. Mutations in ZNF516 cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy. The gene is highly constrained against loss-of-function variation in the general population.
Some data sources returned errors (1)
gnomad: TimeoutError: The operation was aborted due to timeout
Population Genetics & Constraint
Constraint data not available from gnomAD.
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
406 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 151 | 0 | 151 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 209 | 4 | 0 | 213 |
Likely Benign | 0 | 13 | 0 | 2 | 15 |
Benign | 0 | 0 | 1 | 3 | 4 |
Conflicting | — | 1 | |||
| Total | 0 | 222 | 163 | 5 | 391 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZNF516 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools