ZNF124

Chr 1

zinc finger protein 124

Also known as: HZF-16, HZF16, ZK7

The protein is a transcription factor containing a KRAB-A domain and multiple C2H2 zinc finger motifs that regulates gene expression and has anti-apoptotic functions in response to cellular stress. Currently, no human diseases have been definitively associated with ZNF124 mutations. The gene shows low constraint to loss-of-function variation (pLI = 0.01, LOEUF = 1.73), suggesting it may be tolerant to inactivating mutations.

OMIMResearchSummary from RefSeq, UniProt
MultiplemechanismLOEUF 1.73
Clinical SummaryZNF124
Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.73LOEUF
pLI 0.011
Z-score 0.42
OE 0.77 (0.341.73)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.16Z-score
OE missense 1.04 (0.911.18)
163 obs / 157.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.77 (0.341.73)
00.351.4
Missense OE1.04 (0.911.18)
00.61.4
Synonymous OE0.88
01.21.6
LoF obs/exp: 3 / 3.9Missense obs/exp: 163 / 157.4Syn Z: 0.69
DN
0.77top 25%
GOF
0.77top 25%
LOF
0.3065th %ile

This gene has evidence for multiple mechanisms of pathogenicity (gain-of-function and dominant-negative). Both the Badonyi & Marsh prediction and the broader genomic evidence point to gain-of-function as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

GOFprediction above median
DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF124 · 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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