ZBTB11

Chr 3AR

zinc finger and BTB domain containing 11

Also known as: MRT69, ZNF-U69274, ZNF913

NCBI Gene: 27107ENSG00000066422UniProt: O95625

This gene encodes a DNA-binding transcription factor that regulates gene transcription in the nucleus. Biallelic mutations cause autosomal recessive intellectual developmental disorder 69. The gene is highly constrained against loss-of-function variants (pLI near 1, LOEUF 0.541), indicating intolerance to complete gene loss.

Summary from RefSeq, OMIM, UniProt
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Primary Disease Associations & Inheritance

Intellectual developmental disorder, autosomal recessive 69MIM #618383
AR
UniProtNeurodevelopmental disorder with progressive movement abnormalities, cognitive decline, and brain abnormalities
0
Active trials
7
Pubs (1 yr)
21
P/LP submissions
33%
P/LP missense
0.54
LOEUF
LOF
Mechanism· G2P
Clinical Summary— ZBTB11
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
21 unique Pathogenic / Likely Pathogenic· 127 VUS of 195 total submissions
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📖
GeneReview available — ZBTB11
Authoritative clinical overview · Recommended first read
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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 OE0.37 (0.26–0.54)
0≤0.351.4
Missense OE0.76 (0.70–0.82)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 19 / 51.5Missense obs/exp: 424 / 560.5Syn Z: -1.66

ClinVar Variant Classifications

195 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic2
VUS127
Likely Benign27
Benign2
19
Pathogenic
2
Likely Pathogenic
127
VUS
27
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
7
11
0
19
Likely Pathogenic
0
0
2
0
2
VUS
4
112
11
0
127
Likely Benign
0
6
4
17
27
Benign
0
0
2
0
2
Total51253017177

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in 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.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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