ZBTB14
Chr 18zinc finger and BTB domain containing 14
Also known as: ZF5, ZFP-161, ZFP-5, ZFP161, ZNF478
ZBTB14 encodes a transcriptional regulator that activates the dopamine transporter gene and represses multiple genes including FMR1 and MYC by binding to specific DNA sequences in their promoters. Mutations cause autosomal recessive intellectual disability with speech delay, behavioral abnormalities, and developmental delays typically apparent in early childhood. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.645), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
ClinVar Variant Classifications
172 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 | 116 | 0 | 116 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 36 | 7 | 0 | 43 |
Likely Benign | 0 | 1 | 1 | 0 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 37 | 125 | 0 | 162 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZBTB14 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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