ZBTB11

Chr 3AR

zinc finger and BTB domain containing 11

Also known as: MRT69, ZNF-U69274, ZNF913

NCBI Gene: 27107 ENSG00000066422 UniProt: O95625 OMIM: 618181

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews OMIM ResearchGenerating clinical summary…

LOFmechanismARLOEUF 0.541 OMIM phenotype

Clinical Summary— ZBTB11

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

11 unique Pathogenic / Likely Pathogenic· 121 VUS of 179 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 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

179 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11

VUS121

Likely Benign27

Benign2

Pathogenic

121

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	3	7	1	0	11
Likely Pathogenic	0	0	0	0	0
VUS	9	112	0	0	121
Likely Benign	0	6	3	18	27
Benign	0	0	2	0	2
Total	12	125	6	18	161

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

View in ClinVar →

10 pathogenic / likely-pathogenic (of 17) ClinVar copy-number / structural variants overlap ZBTB11 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →