ZBTB24

Chr 6AR

zinc finger and BTB domain containing 24

Also known as: BIF1, ICF2, PATZ2, ZNF450

NCBI Gene: 9841ENSG00000112365UniProt: O43167OMIM: 614064

Predicted to enable DNA-binding transcription factor activity and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Predicted to be located in nucleus. Implicated in immunodeficiency-centromeric instability-facial anomalies syndrome 2. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Immunodeficiency-centromeric instability-facial anomalies syndrome 2MIM #614069
AR

Clinical highlights

Gene-disease validity (ClinGen)
immunodeficiency-centromeric instability-facial anomalies syndrome 2 · ARDefinitivesufficient evidence for diagnostic panels
0
Active trials
10
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.66
LOEUF
DN
Mechanism· predicted
📖
GeneReview available — ZBTB24
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.66LOEUF
pLI 0.000
Z-score 2.90
OE 0.40 (0.25–0.66)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.01Z-score
OE missense 0.85 (0.77–0.93)
307 obs / 361.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.25–0.66)
0≤0.351.4
Missense OE?0.85 (0.77–0.93)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 11 / 27.4Missense obs/exp: 307 / 361.1Syn Z: -0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZBTB24 · 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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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