ZBTB7B

Chr 1

zinc finger and BTB domain containing 7B

Also known as: CKROX, THPOK, ZBTB15, ZFP-67, ZFP67, ZNF857B, c-KROX, hcKROX

NCBI Gene: 51043ENSG00000160685UniProt: O15156

This gene encodes a zinc finger-containing transcription factor that acts as a key regulator of lineage commitment of immature T-cell precursors. It is necessary and sufficient for commitment of CD4 lineage, while its absence causes CD8 commitment. It also functions as a transcriptional repressor of type I collagen genes. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
13
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.52
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.344
Z-score 2.98
OE 0.23 (0.11–0.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.61Z-score
OE missense 0.62 (0.56–0.69)
231 obs / 372.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.23 (0.11–0.52)
0≤0.351.4
Missense OE?0.62 (0.56–0.69)
0≤0.61.4
Synonymous OE?0.87
0≤1.21.6
LoF obs/exp: 4 / 17.5Missense obs/exp: 231 / 372.7Syn Z: 1.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZBTB7B · 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