ZCCHC4

Chr 4

zinc finger CCHC-type containing 4

Also known as: HSPC052, ZGRF4

NCBI Gene: 29063ENSG00000168228UniProt: Q9H5U6OMIM: 611792

Enables S-adenosyl-L-methionine binding activity; rRNA (adenine-N6-)-methyltransferase activity; and zinc ion binding activity. Involved in positive regulation of translation and rRNA methylation. Located in cytoplasm and nucleolus. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
9
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.95
LOEUF
—
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.95LOEUF
pLI 0.000
Z-score 1.78
OE 0.65 (0.46–0.95)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.01Z-score
OE missense 1.00 (0.90–1.10)
274 obs / 274.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.65 (0.46–0.95)
0≤0.351.4
Missense OE?1.00 (0.90–1.10)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 20 / 30.6Missense obs/exp: 274 / 274.5Syn Z: 0.93

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZCCHC4 · 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