ZC3H7A

Chr 16

zinc finger CCCH-type containing 7A

Also known as: HSPC055, ZC3H7, ZC3HDC7

NCBI Gene: 29066 ENSG00000122299 UniProt: Q8IWR0 OMIM: 619819

The protein binds to specific microRNA hairpins and regulates microRNA biogenesis, recognizing the 3'-ATA(A/T)-5' motif in apical loops. Mutations cause autosomal dominant neurodevelopmental disorders with intellectual disability and developmental delay. This gene is highly constrained against loss-of-function variants (pLI=1.00, LOEUF=0.115), indicating intolerance to protein-truncating mutations.

OMIM ResearchSummary from RefSeq, UniProt

Enables miRNA binding activity. Involved in miRNA processing. Acts upstream of with a positive effect on post-transcriptional regulation of gene expression. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.12

Clinical Summary— ZC3H7A

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Population Constraint (gnomAD)

Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.12LOEUF

pLI 1.000

Z-score 6.62

OE 0.04 (0.01–0.12)

Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?

1.75Z-score

OE missense 0.78 (0.72–0.85)

406 obs / 518.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.04 (0.01–0.12)

0≤0.351.4

Missense OE?0.78 (0.72–0.85)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 2 / 54.9Missense obs/exp: 406 / 518.0Syn Z: -0.64

This gene — mechanism propensity

0.2897th %ile

GOF

0.3094th %ile

LOF

0.67top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.12

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.