ZBTB14

Chr 18

zinc finger and BTB domain containing 14

Also known as: ZF5, ZFP-161, ZFP-5, ZFP161, ZNF478

NCBI Gene: 7541 ENSG00000198081 UniProt: O43829 OMIM: 602126

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.

OMIM ResearchSummary from RefSeq, UniProt

Enables DNA-binding transcription factor activity and transcription cis-regulatory region binding activity. Involved in negative regulation of DNA-templated transcription. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.65

LOEUF

—

Mechanism