ZNF692

Chr 1

zinc finger protein 692

Also known as: AREBP, Zfp692

NCBI Gene: 55657ENSG00000171163UniProt: Q9BU19OMIM: 617758

ZNF692 encodes a transcriptional repressor that regulates gluconeogenesis by suppressing PCK1 gene expression through AMPK signaling pathways. Mutations cause autosomal recessive neurodevelopmental disorder with hypotonia, seizures, and abnormal glucose metabolism, typically manifesting in infancy or early childhood. The gene is not highly constrained against loss-of-function variants.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 1.22
Clinical Summary— ZNF692
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.22LOEUF
pLI 0.000
Z-score 0.75
OE 0.83 (0.58–1.22)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.85Z-score
OE missense 0.86 (0.78–0.96)
257 obs / 298.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.83 (0.58–1.22)
0≤0.351.4
Missense OE0.86 (0.78–0.96)
0≤0.61.4
Synonymous OE1.05
0≤1.21.6
LoF obs/exp: 19 / 22.8Missense obs/exp: 257 / 298.1Syn Z: -0.41

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF692 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
ZNF692 promotes the migration and response to immunotherapy of clear cell renal cell carcinoma cells by targeting metabolic pathway.
Liu Y et al.·Discov Oncol
2024Open Access
ZNF692 promotes osteosarcoma cell proliferation, migration, and invasion through TNK2-mediated activation of the MEK/ERK pathway.
Zheng D et al.·Biol Direct
2024Open Access
ZNF692 drives malignant development of hepatocellular carcinoma cells by promoting ALDOA-dependent glycolysis.
Meng W et al.·Funct Integr Genomics
2024Open Access
ZNF692 regulates nucleolar morphology by interacting with NPM1 and modifying its self-assembly properties.
Brown IN et al.·J Biol Chem
2024Open Access
ZNF692 promotes cell proliferation, invasion and migration of human prostate cancer cells by targeting the EMT signaling pathway.
Chen H et al.·Eur J Med Res
2024Open Access
Top 5 resultsSearch Europe PMC ↗

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