ZNF142

Chr 2AR

zinc finger protein 142

Also known as: HA4654, NEDISHM, pHZ-49

The protein is a transcriptional regulator containing 31 C2H2-type zinc fingers from the Kruppel family. Biallelic mutations cause a neurodevelopmental disorder with impaired speech and hyperkinetic movements, inherited in an autosomal recessive pattern. The gene shows relatively low constraint to loss-of-function variants.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.791 OMIM phenotype
Clinical SummaryZNF142
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — 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
0.79LOEUF
pLI 0.000
Z-score 2.84
OE 0.59 (0.450.79)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
0.24Z-score
OE missense 0.98 (0.931.03)
962 obs / 983.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.59 (0.450.79)
00.351.4
Missense OE0.98 (0.931.03)
00.61.4
Synonymous OE0.97
01.21.6
LoF obs/exp: 34 / 57.2Missense obs/exp: 962 / 983.3Syn Z: 0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF142 · 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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