ZNF138

Chr 7

zinc finger protein 138

Also known as: pHZ-32

NCBI Gene: 7697ENSG00000197008UniProt: P52744OMIM: 604080

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of DNA-templated transcription. Predicted to be located in membrane and nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.69
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.69LOEUF
pLI 0.048
Z-score 0.62
OE 0.63 (0.25–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.25Z-score
OE missense 1.06 (0.93–1.21)
156 obs / 147.5 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.63 (0.25–1.69)
0≤0.351.4
Missense OE?1.06 (0.93–1.21)
0≤0.61.4
Synonymous OE?1.20
0≤1.21.6
LoF obs/exp: 2 / 3.2Missense obs/exp: 156 / 147.5Syn Z: -1.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF138 · 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