ZBTB11

Chr 3

zinc finger and BTB domain containing 11

Also known as: MRT69, ZNF-U69274, ZNF913

NCBI Gene: 27107ENSG00000066422UniProt: O95625

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Located in nucleoplasm. Implicated in autosomal recessive intellectual developmental disorder 69. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities

Clinical highlights

Gene-disease validity (ClinGen)
syndromic complex neurodevelopmental disorder · ARDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.54
LOEUF
LOF
Mechanism· G2P
📖
GeneReview available — ZBTB11
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.54LOEUF
pLI 0.000
Z-score 4.20
OE 0.37 (0.26–0.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.05Z-score
OE missense 0.76 (0.70–0.82)
424 obs / 560.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.37 (0.26–0.54)
0≤0.351.4
Missense OE?0.76 (0.70–0.82)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 19 / 51.5Missense obs/exp: 424 / 560.5Syn Z: -1.66

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZBTB11 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients