ZNF703

Chr 8

zinc finger protein 703

Also known as: NLZ1, ZEPPO1, ZNF503L, ZPO1

NCBI Gene: 80139ENSG00000183779UniProt: Q9H7S9

Predicted to enable DNA-binding transcription factor binding activity and zinc ion binding activity. Involved in several processes, including cellular response to estradiol stimulus; positive regulation of mammary gland epithelial cell proliferation; and regulation of transforming growth factor beta receptor signaling pathway. Located in cytoplasm and nuclear matrix. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
56
Pathogenic / LP
150
ClinVar variants
5
Pubs (1 yr)
2.1
Missense Z
0.71
LOEUF
Clinical Summary— ZNF703
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.23) despite low pLI — interpret in context.
📋
ClinVar Variants
56 Pathogenic / Likely Pathogenic· 94 VUS of 150 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
0.71LOEUF
pLI 0.356
Z-score 2.13
OE 0.23 (0.09–0.71)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
2.08Z-score
OE missense 0.64 (0.57–0.73)
172 obs / 267.8 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.23 (0.09–0.71)
0≤0.351.4
Missense OE0.64 (0.57–0.73)
0≤0.61.4
Synonymous OE0.82
0≤1.21.6
LoF obs/exp: 2 / 8.8Missense obs/exp: 172 / 267.8Syn Z: 1.66
LOF
DN
0.4388th %ile
GOF
0.2696th %ile
LOF
0.84top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

150 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic55
Likely Pathogenic1
VUS94
55
Pathogenic
1
Likely Pathogenic
94
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
55
0
55
Likely Pathogenic
0
0
1
0
1
VUS
0
89
5
0
94
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total089610150

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

View in ClinVar →

ZNF703 · 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 →
Clinical Literature
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
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