ZBTB48

Chr 1

zinc finger and BTB domain containing 48

Also known as: HKR3, TZAP, ZNF855, pp9964

NCBI Gene: 3104ENSG00000204859UniProt: P10074OMIM: 165270

Enables double-stranded telomeric DNA binding activity; identical protein binding activity; and transcription cis-regulatory region binding activity. Involved in positive regulation of DNA-templated transcription and telomere maintenance via telomere lengthening. Located in chromosome, telomeric region. [provided by Alliance of Genome Resources, Apr 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.64
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.64LOEUF
pLI 0.000
Z-score 3.07
OE 0.40 (0.25–0.64)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.21Z-score
OE missense 0.83 (0.76–0.91)
348 obs / 417.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.25–0.64)
0≤0.351.4
Missense OE?0.83 (0.76–0.91)
0≤0.61.4
Synonymous OE?1.16
0≤1.21.6
LoF obs/exp: 12 / 30.2Missense obs/exp: 348 / 417.3Syn Z: -1.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZBTB48 · 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.

Search ClinicalTrials.gov →

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