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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZNF142
zinc finger protein 142
Chromosome 2 Β· 2q35
NCBI Gene: 7701Ensembl: ENSG00000115568.16HGNC: HGNC:12927UniProt: A0A7P0N7C4
26PubMed Papers
21Diseases
0Drugs
43Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
RNA polymerase II transcription regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificregulation of transcription by RNA polymerase IInucleusneurodevelopmental disorder with impaired speech and hyperkinetic movementssyndromic intellectual disabilityIntellectual disabilitySeizure
✦AI Summary

ZNF142 encodes a zinc finger transcription factor containing 31 C2H2-type zinc finger domains that functions as a DNA-binding transcription factor regulating RNA polymerase II-mediated gene expression 1. The protein localizes to the nucleus where it participates in transcriptional regulation and potentially chr2 organization 2. Biallelic loss-of-function variants in ZNF142 cause neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM), an autosomal recessive condition 1. ZNF142 deficiency produces a distinctive DNA methylation signature affecting a limited number of genomic loci, with 88 differentially methylated probes identified in affected individuals, suggesting ZNF142 regulates methylation at specific regulatory regions 2. Clinically, ZNF142 mutations lead to syndromic neurodevelopmental disorder characterized by mild-to-moderate intellectual disability, speech impairment, seizures (often early-onset), hypotonia, movement disorders including dystonia and ataxia, developmental delay, behavioral features, and facial dysmorphism 34. Frameshift and nonsense variants appear more common than missense mutations among identified pathogenic variants 3. Expression studies demonstrate that pathogenic variants reduce ZNF142 mRNA levels substantially 5. The phenotypic variability observed among affected individuals, including identical twins carrying identical mutations, indicates that ZNF142 pathogenic variants cause complex neurodevelopmental dysfunction through transcriptional dysregulation 5.

Sources cited
1
ZNF142 encodes a zinc finger protein with 31 C2H2-type zinc finger domains; biallelic pathogenic variants cause autosomal recessive neurodevelopmental disorder with impaired speech and developmental delay
PMID: 35618198
2
ZNF142 is a zinc-finger transcription factor; biallelic inactivating variants produce a distinctive DNA methylation signature with 88 differentially methylated probes affecting regulatory regions
PMID: 40410387
3
Biallelic ZNF142 variants cause syndromic neurodevelopmental disorder with intellectual disability, speech impairment, seizures, hypotonia, behavioral features, movement disorders, and facial dysmorphism; frameshift and nonsense variants predominate over missense variants
PMID: 35616059
4
ZNF142 biallelic variants are associated with neurodevelopmental disorder featuring developmental delay, intellectual disability, speech delay, and movement disorders (dystonia, tremor, ataxia, chorea)
PMID: 38655717
5
Pathogenic ZNF142 variants reduce ZNF142 mRNA expression levels substantially; phenotypic heterogeneity observed even in genetically identical individuals suggests complex gene regulation effects
PMID: 40692464
Disease Associationsβ“˜21
neurodevelopmental disorder with impaired speech and hyperkinetic movementsOpen Targets
0.74Strong
syndromic intellectual disabilityOpen Targets
0.55Moderate
Intellectual disabilityOpen Targets
0.55Moderate
SeizureOpen Targets
0.55Moderate
neurodegenerative diseaseOpen Targets
0.54Moderate
genetic disorderOpen Targets
0.47Moderate
Global developmental delayOpen Targets
0.46Moderate
DystoniaOpen Targets
0.46Moderate
essential tremorOpen Targets
0.46Moderate
TremorOpen Targets
0.46Moderate
Neurodevelopmental disorderOpen Targets
0.37Weak
complex neurodevelopmental disorderOpen Targets
0.37Weak
cutaneous lupus erythematosusOpen Targets
0.34Weak
osteitis deformansOpen Targets
0.34Weak
VertigoOpen Targets
0.34Weak
Abnormality of the skeletal systemOpen Targets
0.14Weak
attention deficit hyperactivity disorderOpen Targets
0.09Suggestive
movement disorderOpen Targets
0.08Suggestive
hereditary attention deficit-hyperactivity disorderOpen Targets
0.07Suggestive
intellectual disability, autosomal recessive 59Open Targets
0.07Suggestive
Neurodevelopmental disorder with impaired speech and hyperkinetic movementsUniProt
Pathogenic Variants43
NM_001379659.1(ZNF142):c.3946del (p.Glu1316fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 1316
NM_001379659.1(ZNF142):c.4602del (p.Leu1535fs)Pathogenic
Seizure;Intellectual disability|Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜…β˜†β˜†2025β†’ Residue 1535
NM_001379659.1(ZNF142):c.2510del (p.Pro837fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜…β˜†β˜†2025β†’ Residue 837
NM_001379659.1(ZNF142):c.2506C>T (p.Arg836Ter)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 836
NM_001379659.1(ZNF142):c.4630C>T (p.Arg1544Ter)Pathogenic
not provided|Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜…β˜†β˜†2025β†’ Residue 1544
NM_001379659.1(ZNF142):c.4114C>T (p.Gln1372Ter)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜…β˜†β˜†2025β†’ Residue 1372
NM_001379659.1(ZNF142):c.1765_1766del (p.Asp589fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜…β˜†β˜†2025β†’ Residue 589
NM_001379659.1(ZNF142):c.1852C>T (p.Arg618Ter)Pathogenic
not provided|Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜…β˜†β˜†2025β†’ Residue 618
NM_001379659.1(ZNF142):c.3775C>T (p.Arg1259Ter)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1259
NM_001379659.1(ZNF142):c.3755del (p.Gly1252fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1252
NM_001379659.1(ZNF142):c.3787dup (p.Gln1263fs)Likely pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜…β˜†β˜†2021β†’ Residue 1263
NM_001379659.1(ZNF142):c.2029C>T (p.Arg677Ter)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜†β˜†β˜†2026β†’ Residue 677
NM_001379659.1(ZNF142):c.2531del (p.Pro844fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 844
NM_001379659.1(ZNF142):c.3232C>T (p.Gln1078Ter)Likely pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜†β˜†β˜†2025β†’ Residue 1078
NM_001379659.1(ZNF142):c.4990C>T (p.Arg1664Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 1664
NM_001379659.1(ZNF142):c.1762C>T (p.Gln588Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 588
NM_001379659.1(ZNF142):c.3250del (p.His1084fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜†β˜†β˜†2025β†’ Residue 1084
NM_001379659.1(ZNF142):c.4298G>T (p.Cys1433Phe)Likely pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜†β˜†β˜†2025β†’ Residue 1433
NM_001379659.1(ZNF142):c.4485C>A (p.Phe1495Leu)Likely pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜†β˜†β˜†2025β†’ Residue 1495
NM_001379659.1(ZNF142):c.1127del (p.Thr376fs)Pathogenic
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
β˜…β˜†β˜†β˜†2025β†’ Residue 376
View on ClinVar β†—
Related Genes
LOC728743Shared pathway100%ATXN7L3BShared pathway100%CAVIN4Shared pathway100%UNCXShared pathway100%DPPA5Shared pathway100%NKAPLShared pathway100%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
64%
Ovary
62%
Heart
62%
Lung
60%
Liver
40%
Gene Interaction Network
Click a node to explore
ZNF142LOC728743ATXN7L3BCAVIN4UNCXDPPA5NKAPL
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P52746
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.83LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.70 [0.59–0.83]
RankingsWhere ZNF142 stands among ~20K protein-coding genes
  • #12,920of 20,598
    Most Researched26
  • #1,478of 5,498
    Most Pathogenic Variants43
  • #7,114of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedZNF142
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A deleterious frameshift insertion mutation in the ZNF142 gene leads to intellectual developmental disorder with impaired speech in three affected siblings: Clinical features and literature review.
PMID: 37496384
Mol Genet Genomic Med Β· 2023
1.00
2
ZNF142 mutation causes neurodevelopmental disorder with speech impairment and seizures: Novel variants and literature review.
PMID: 35618198
Eur J Med Genet Β· 2022
0.90
3
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci.
PMID: 40410387
Eur J Hum Genet Β· 2025
0.80
4
Recent genetic advances in early-onset dystonia.
PMID: 32657892
Curr Opin Neurol Β· 2020
0.70
5
A case report of a patient with neurodevelopmental disorder with impaired speech and hyperkinetic movements: A biallelic variant in the ZNF142 gene.
PMID: 38655717
Am J Med Genet A Β· 2024
0.60