ZBTB20

Chr 3AD

zinc finger and BTB domain containing 20

Also known as: DPZF, HOF, ODA-8S, PRIMS, ZNF288

NCBI Gene: 26137ENSG00000181722UniProt: Q9HC78OMIM: 606025

This gene, which was initially designated as dendritic cell-derived BTB/POZ zinc finger (DPZF), belongs to a family of transcription factors with an N-terminal BTB/POZ domain and a C-terminal DNA-bindng zinc finger domain. The BTB/POZ domain is a hydrophobic region of approximately 120 aa which mediates association with other BTB/POZ domain-containing proteins. This gene acts as a transcriptional repressor and plays a role in many processes including neurogenesis, glucose homeostasis, and postnatal growth. Mutations in this gene have been associated with Primrose syndrome as well as the 3q13.31 microdeletion syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Feb 2017]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Primrose syndromeMIM #259050
AD

Clinical highlights

Gene-disease validity (ClinGen)
Primrose syndrome · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
A dominant-negative effect is the curated mechanism (Gene2Phenotype), so a variant that simply removes the protein may not be the pathogenic class here — missense variants in functional domains often carry more weight.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
48
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.32
LOEUF· LoF intol.
DN*
Mechanism· G2P
📖
GeneReview available — ZBTB20
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.32LOEUF
pLI 0.974
Z-score 4.02
OE 0.12 (0.06–0.32)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
4.27Z-score
OE missense 0.45 (0.40–0.51)
217 obs / 480.5 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios?
LoF OE?0.12 (0.06–0.32)
0≤0.351.4
Missense OE?0.45 (0.40–0.51)
0≤0.61.4
Synonymous OE?0.90
0≤1.21.6
LoF obs/exp: 3 / 24.4Missense obs/exp: 217 / 480.5Syn Z: 1.12

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZBTB20 · protein map & ClinVar variants

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

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