ZC3H15

Chr 2

zinc finger CCCH-type containing 15

Also known as: DFRP1, HT010, LEREPO4, MSTP012

The ZC3H15 protein binds RNA and protects DRG1 from degradation while stimulating its GTPase activity. Mutations cause intellectual disability with developmental delay, and the gene shows autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating that complete loss of protein function is likely detrimental to normal development.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.37
Clinical SummaryZC3H15
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 0.90). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.37LOEUF
pLI 0.903
Z-score 3.61
OE 0.14 (0.070.37)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint
1.83Z-score
OE missense 0.65 (0.560.74)
136 obs / 210.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.14 (0.070.37)
00.351.4
Missense OE0.65 (0.560.74)
00.61.4
Synonymous OE0.96
01.21.6
LoF obs/exp: 3 / 20.7Missense obs/exp: 136 / 210.7Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZC3H15 · 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

No active trials found for this gene.

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Clinical Literature
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