ZNF322

Chr 6

zinc finger protein 322

Also known as: HCG12, ZNF322A, ZNF388, ZNF489

NCBI Gene: 79692ENSG00000181315UniProt: Q6U7Q0

ZNF322A is a member of the zinc-finger transcription factor family and may regulate transcriptional activation in MAPK (see MAPK1; MIM 176948) signaling pathways (Li et al., 2004 [PubMed 15555580]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.92
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.92LOEUF
pLI 0.030
Z-score 1.76
OE 0.40 (0.20–0.92)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.82Z-score
OE missense 0.60 (0.51–0.71)
100 obs / 165.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.40 (0.20–0.92)
0≤0.351.4
Missense OE?0.60 (0.51–0.71)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 4 / 10.0Missense obs/exp: 100 / 165.9Syn Z: 0.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZNF322 · 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