ZC3H12A

Chr 1

zinc finger CCCH-type containing 12A

Also known as: MCPIP, MCPIP-1, MCPIP1, Reg1, dJ423B22.1

NCBI Gene: 80149ENSG00000163874UniProt: Q5D1E8OMIM: 610562

ZC3H12A is an MCP1 (CCL2; MIM 158105)-induced protein that acts as a transcriptional activator and causes cell death of cardiomyocytes, possibly via induction of genes associated with apoptosis.[supplied by OMIM, Mar 2008]

OMIMResearchGenerating clinical summary…
LOEUF 0.51
Clinical Summary— ZC3H12A
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.26) despite low pLI — interpret in context.
📋
ClinVar Variants
65 VUS of 84 total submissions
💊
Clinical Trials
2 active or recruiting trials — potential therapeutic options may be available
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.51LOEUF
pLI 0.140
Z-score 3.30
OE 0.26 (0.14–0.51)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.18Z-score
OE missense 0.68 (0.61–0.76)
253 obs / 371.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.26 (0.14–0.51)
0≤0.351.4
Missense OE?0.68 (0.61–0.76)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 6 / 23.2Missense obs/exp: 253 / 371.5Syn Z: -0.45

ClinVar Variant Classifications

84 submitted variants in ClinVar

ClinVar

Classification Summary

VUS65
Likely Benign8
Benign3
65
VUS
8
Likely Benign
3
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
65
0
0
65
Likely Benign
0
6
0
2
8
Benign
0
2
0
1
3
Total0730376

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

View in ClinVar →

5 pathogenic / likely-pathogenic (of 10) ClinVar copy-number / structural variants overlap ZC3H12A — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

ZC3H12A · protein map & ClinVar variants

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

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