ZNG1F

Chr 9

Zn regulated GTPase metalloprotein activator 1F

Also known as: CBWD6, CBWD7

NCBI Gene: 644019ENSG00000215126UniProt: Q4V339

ZNG1F encodes a zinc chaperone that transfers zinc cofactor to target metalloproteins, specifically catalyzing zinc insertion into methionine aminopeptidase METAP1 through GTP hydrolysis to activate protein processing during translation. Based on the provided information, no disease associations or inheritance patterns have been established for this gene. The protein functions in both the nucleus and cytoplasm as part of essential cellular zinc homeostasis pathways.

ResearchSummary from RefSeq, UniProt
DNmechanism
Clinical Summary— ZNG1F
📋
ClinVar Variants
37 unique Pathogenic / Likely Pathogenic· 33 VUS of 79 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

DN
0.6649th %ile
GOF
0.5857th %ile
LOF
0.3165th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

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

ClinVar Variant Classifications

79 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic34
Likely Pathogenic3
VUS33
Likely Benign3
34
Pathogenic
3
Likely Pathogenic
33
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
34
0
34
Likely Pathogenic
0
0
3
0
3
VUS
0
32
1
0
33
Likely Benign
0
1
0
2
3
Benign
0
0
0
0
0
Total03338273

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

View in ClinVar →

Protein Context — Lollipop Plot

ZNG1F · 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.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 1 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 1 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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