ZBTB7B

Chr 1

zinc finger and BTB domain containing 7B

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

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]

OMIMResearchGenerating clinical summary…
LOEUF 0.52
Clinical SummaryZBTB7B
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
📋
ClinVar Variants
20 total variants — no pathogenic classifications of 20 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.52LOEUF
pLI 0.344
Z-score 2.98
OE 0.23 (0.110.52)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.61Z-score
OE missense 0.62 (0.560.69)
231 obs / 372.7 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.23 (0.110.52)
00.351.4
Missense OE?0.62 (0.560.69)
00.61.4
Synonymous OE?0.87
01.21.6
LoF obs/exp: 4 / 17.5Missense obs/exp: 231 / 372.7Syn Z: 1.27

ClinVar Variant Classifications

20 submitted variants in ClinVar

Classification Summary

Likely Benign4
Benign2
4
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
0
0
0
0
Likely Benign
0
0
0
4
4
Benign
0
0
0
2
2
Total00066

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

View in ClinVar →

14 pathogenic / likely-pathogenic (of 20) ClinVar copy-number / structural variants overlap ZBTB7B — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

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

No active trials found for this gene.

Search ClinicalTrials.gov →