ZBTB11

Chr 3AR

zinc finger and BTB domain containing 11

Also known as: MRT69, ZNF-U69274, ZNF913

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.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.541 OMIM phenotype
Clinical SummaryZBTB11
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint
0.54LOEUF
pLI 0.000
Z-score 4.20
OE 0.37 (0.260.54)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
2.05Z-score
OE missense 0.76 (0.700.82)
424 obs / 560.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.37 (0.260.54)
00.351.4
Missense OE0.76 (0.700.82)
00.61.4
Synonymous OE1.15
01.21.6
LoF obs/exp: 19 / 51.5Missense obs/exp: 424 / 560.5Syn Z: -1.66

ClinVar Variant Classifications

0 submitted variants 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.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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