ZNF202

Chr 11

zinc finger protein 202

Also known as: ZKSCAN10, ZSCAN42

NCBI Gene: 7753 ENSG00000166261 UniProt: O95125 OMIM: 603430

Enables DNA-binding transcription repressor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.42

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.42LOEUF

pLI 0.526

Z-score 3.88

OE 0.21 (0.12–0.42)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.69Z-score

OE missense 0.75 (0.68–0.83)

277 obs / 368.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.21 (0.12–0.42)

0≤0.351.4

Missense OE?0.75 (0.68–0.83)

0≤0.61.4

Synonymous OE?1.03

0≤1.21.6

LoF obs/exp: 6 / 28.3Missense obs/exp: 277 / 368.5Syn Z: -0.33

Background carrier burden — how many people carry a rare variant somewhere in ZNF202?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

688 rare PASS variants

Rare truncating (LoF)

1 in 6,200

59 rare PASS variants

Rare synonymous (reference)

1 in 140

312 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZNF202. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 120	1 in 11,000
South Asian	~43k	1 in 110	1 in 1,700
Remaining (unassigned)	~30k	1 in 85	1 in 5,000
European (Finnish)	~27k	1 in 230	none seen
Admixed American	~22k	1 in 76	≈ 1 in 22,000
African / African American	~21k	1 in 83	≈ 1 in 5,800
East Asian	~20k	1 in 84	1 in 1,300
Ashkenazi Jewish	~13k	1 in 720	1 in 1,100
Middle Eastern	~2,884	1 in 80	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓