ZBTB46

Chr 20

zinc finger and BTB domain containing 46

Also known as: BTBD4, BZEL, RINZF, ZNF340, dJ583P15.7, dJ583P15.8

NCBI Gene: 140685 ENSG00000130584 UniProt: Q86UZ6

ZBTB46 encodes a transcription repressor that regulates dendritic cell differentiation and immune tolerance to gut microbiota. The gene is highly constrained against loss-of-function variants (pLI 0.81, LOEUF 0.40), but no definitive Mendelian disease associations have been established in humans to date.

ResearchSummary from RefSeq, UniProt

Predicted to enable DNA-binding transcription repressor activity, RNA polymerase II-specific and transcription cis-regulatory region binding activity. Involved in regulation of transcription by RNA polymerase II. Predicted to be located in chromatin. [provided by Alliance of Genome Resources, Jul 2025]

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

0.40

LOEUF

LOF

Mechanism· predicted

Some data sources returned errors (1)

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