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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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ZC4H2
zinc finger C4H2-type containing
Chromosome X Β· Xq11.2
NCBI Gene: 55906Ensembl: ENSG00000126970.17HGNC: HGNC:24931UniProt: Q9NQZ6
47PubMed Papers
22Diseases
0Drugs
68Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
protein monoubiquitinationpositive regulation of transcription by RNA polymerase IIregulation of transcription regulatory region DNA bindingprotein bindingIntellectual disability-developmental delay-contractures syndromeWieacker-Wolff syndromegenetic disorderWieacker-Wolff syndrome (spectrum)
✦AI Summary

ZC4H2 is an X-linked zinc finger protein serving as a critical co-factor for the E3 ubiquitin ligase RNF220 in neural development and synaptic function. Functionally, ZC4H2 stabilizes RNF220 and cooperates in protein ubiquitination pathways essential for neural stem cell differentiation and neuronal development 1. Mechanistically, the RNF220/ZC4H2 complex regulates spinal cord patterning by targeting transcription factors (Dbx1/2, Nkx2.2) for degradation, establishing ventral progenitor domains that generate motor neurons and interneurons 2. ZC4H2 also promotes noradrenergic neuron development through monoubiquitylation of Phox2a/Phox2b transcription factors 3, and functions as a postsynaptic regulator by modulating AMPA receptor ubiquitination and stability at excitatory synapses 4. Disease relevance: Pathogenic ZC4H2 variants cause Wieacker-Wolff syndrome (female-restricted), an X-linked neurodevelopmental disorder featuring arthrogryposis, developmental delay, hypotonia, and intellectual disability 5. ZC4H2 mutations are among the most frequent genetic causes (9.1%) of neurogenic arthrogryposis multiplex congenita 6. Clinical significance: ZC4H2 deficiency produces cognitive impairment through dysregulated excitatory synaptic transmission, potentially reversible with AMPAR antagonists, suggesting therapeutic opportunities 4.

Sources cited
1
Loss of ZC4H2 inhibits neural stem cell proliferation and promotes neuronal differentiation through Cend1 pathway regulation
PMID: 32630355
2
RNF220 and ZC4H2 cooperate to regulate spinal cord patterning by targeting transcription factors Dbx1/2 and Nkx2.2 for degradation
PMID: 30177510
3
RNF220/ZC4H2 complex monoubiquitylates Phox2a/Phox2b to promote noradrenergic neuron development in the locus coeruleus
PMID: 32094113
4
ZC4H2 regulates AMPA receptor ubiquitination and stability at postsynaptic sites to maintain excitatory synaptic transmission and cognitive function
PMID: 40632560
5
Pathogenic ZC4H2 variants cause Wieacker-Wolff syndrome with arthrogryposis, developmental delay, and associated tethered cord in multiple patients
PMID: 36250278
6
ZC4H2 is among the most frequently implicated genes (9.1%) in neurogenic arthrogryposis multiplex congenita
PMID: 40443119
Disease Associationsβ“˜22
Intellectual disability-developmental delay-contractures syndromeOpen Targets
0.83Strong
Wieacker-Wolff syndromeOpen Targets
0.81Strong
genetic disorderOpen Targets
0.52Moderate
Wieacker-Wolff syndrome (spectrum)Open Targets
0.44Moderate
X-linked syndromic intellectual disabilityOpen Targets
0.37Weak
X-linked non-syndromic intellectual disabilityOpen Targets
0.37Weak
Neurodevelopmental disorderOpen Targets
0.27Weak
amyotrophic lateral sclerosisOpen Targets
0.08Suggestive
Mobius syndromeOpen Targets
0.07Suggestive
familial amyotrophic lateral sclerosisOpen Targets
0.07Suggestive
hypogonadismOpen Targets
0.07Suggestive
Autosomal recessive spastic paraplegia type 25Open Targets
0.07Suggestive
hereditary spastic paraplegia 25Open Targets
0.07Suggestive
hereditary neuropathy with liability to pressure palsiesOpen Targets
0.06Suggestive
amyotrophic lateral sclerosis type 22Open Targets
0.06Suggestive
Primary lateral sclerosisOpen Targets
0.06Suggestive
craniofacial conodysplasiaOpen Targets
0.06Suggestive
microcephaly 25, primary, autosomal recessiveOpen Targets
0.06Suggestive
diastematomyeliaOpen Targets
0.05Suggestive
Charcot-Marie-Tooth disease type 1AOpen Targets
0.05Suggestive
Wieacker-Wolf syndromeUniProt
Wieacker-Wolff syndrome, female-restrictedUniProt
Pathogenic Variants68
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp)Pathogenic
Wieacker-Wolff syndrome|not provided|Inborn genetic diseases|Wieacker-Wolff syndrome (spectrum)
β˜…β˜…β˜†β˜†2026β†’ Residue 213
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)Pathogenic
not provided|Wieacker-Wolff syndrome|Wieacker-Wolff syndrome, female-restricted;Wieacker-Wolff syndrome|Wieacker-Wolff syndrome (spectrum)
β˜…β˜…β˜†β˜†2025β†’ Residue 198
NM_018684.4(ZC4H2):c.196C>T (p.Leu66Phe)Pathogenic
Wieacker-Wolff syndrome|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 66
NM_018684.4(ZC4H2):c.225+5G>APathogenic
Wieacker-Wolff syndrome|not provided|ZC4H2-related X-linked intellectual disability
β˜…β˜…β˜†β˜†2024
NM_018684.4(ZC4H2):c.631C>T (p.Arg211Trp)Likely pathogenic
not provided|Wieacker-Wolff syndrome|ZC4H2-related disorder
β˜…β˜…β˜†β˜†2024β†’ Residue 211
NM_018684.4(ZC4H2):c.593G>A (p.Arg198Gln)Pathogenic
Wieacker-Wolff syndrome|not provided|Wieacker-Wolff syndrome, female-restricted
β˜…β˜…β˜†β˜†2023β†’ Residue 198
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)Pathogenic
Inborn genetic diseases|not provided|Wieacker-Wolff syndrome|Wieacker-Wolff syndrome, female-restricted
β˜…β˜…β˜†β˜†2023β†’ Residue 67
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)Pathogenic
Wieacker-Wolff syndrome|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 81
NM_018684.4(ZC4H2):c.22_23del (p.Met8fs)Pathogenic
Wieacker-Wolff syndrome|not provided
β˜…β˜…β˜†β˜†2022β†’ Residue 8
NM_018684.4(ZC4H2):c.427C>T (p.Gln143Ter)Pathogenic
Wieacker-Wolff syndrome|not provided|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2019β†’ Residue 143
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)Pathogenic
Wieacker-Wolff syndrome|not provided
β˜…β˜…β˜†β˜†2019β†’ Residue 138
NM_018684.4(ZC4H2):c.602C>T (p.Pro201Leu)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 201
NM_018684.4(ZC4H2):c.83del (p.Lys28fs)Likely pathogenic
Wieacker-Wolff syndrome
β˜…β˜†β˜†β˜†2025β†’ Residue 28
NM_018684.4(ZC4H2):c.450dup (p.Ile151fs)Pathogenic
Inborn genetic diseases
β˜…β˜†β˜†β˜†2025β†’ Residue 151
NM_018684.4(ZC4H2):c.450del (p.Ile151fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 151
NM_018684.4(ZC4H2):c.616T>C (p.Cys206Arg)Likely pathogenic
Wieacker-Wolff syndrome, female-restricted
β˜…β˜†β˜†β˜†2025β†’ Residue 206
NM_018684.4(ZC4H2):c.200G>A (p.Arg67Gln)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 67
GRCh38/hg38 Xq11.2(chrX:64951692-65166933)x1Pathogenic
Wieacker-Wolff syndrome, female-restricted
β˜…β˜†β˜†β˜†2024
NM_018684.4(ZC4H2):c.544C>T (p.Gln182Ter)Likely pathogenic
Wieacker-Wolff syndrome, female-restricted
β˜…β˜†β˜†β˜†2024β†’ Residue 182
NM_018684.4(ZC4H2):c.635C>T (p.Ser212Phe)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 212
View on ClinVar β†—
Related Genes
RNF220Protein interaction68%BRINP2Shared pathway25%BRINP3Shared pathway25%NBL1Shared pathway25%CNTNAP3BShared pathway25%BARHL2Shared pathway25%
Tissue Expression6 tissues
Ovary
100%
Heart
78%
Liver
64%
Bone Marrow
60%
Brain
51%
Lung
40%
Gene Interaction Network
Click a node to explore
ZC4H2RNF220BRINP2BRINP3NBL1CNTNAP3BBARHL2
PROTEIN STRUCTURE
Preparing viewer…
PDB9P3Z Β· NMR
View on RCSB β†—
RankingsWhere ZC4H2 stands among ~20K protein-coding genes
  • #9,289of 20,598
    Most Researched47
  • #1,070of 5,498
    Most Pathogenic Variants68 Β· top quartile
Genes detectedZC4H2
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort.
PMID: 34602496
J Neuromuscul Dis Β· 2022
1.00
2
Loss of ZC4H2 and RNF220 Inhibits Neural Stem Cell Proliferation and Promotes Neuronal Differentiation.
PMID: 32630355
Cells Β· 2020
0.90
3
Expanding allelic and phenotypic spectrum of ZC4H2-related disorder: A novel hypomorphic variant and high prevalence of tethered cord.
PMID: 36250278
Clin Genet Β· 2023
0.80
4
The pathogenic factor of ZC4H2-associated rare disorder is a postsynaptic regulator for synaptic activity and cognitive function.
PMID: 40632560
Proc Natl Acad Sci U S A Β· 2025
0.70
5
Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum.
PMID: 40443119
Ann Clin Transl Neurol Β· 2025
0.60