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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
ZCCHC8
zinc finger CCHC-type containing 8
Chromosome 12 Β· 12q24.31
NCBI Gene: 55596Ensembl: ENSG00000033030.17HGNC: HGNC:25265UniProt: Q6NZY4
110PubMed Papers
21Diseases
0Drugs
4Pathogenic Variants
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mRNA 3'-end processingco-transcriptional lncRNA 3' end processing, cleavage and polyadenylation pathwayRNA bindingprotein bindingpulmonary fibrosis, and/or bone marrow failure, telomere-related, 5neurodegenerative diseasedyskeratosis congenitainherited aplastic anemia
✦AI Summary

ZCCHC8 encodes a scaffolding subunit of the nuclear exosome targeting (NEXT) complex that plays critical roles in RNA surveillance and telomere maintenance. The protein functions as a scaffold mediating NEXT complex homodimerization while coordinating with MTR4 helicase and RBM7 to recognize and process aberrant transcripts and non-coding RNAs for exosomal degradation 1. ZCCHC8 regulates histone H3K27me3 levels by degrading nascent long non-coding RNAs containing G-quadruplex and U-rich motifs, which affects polycomb repressive complex 2 recruitment and gene silencing in cancer 2. The protein also forms functional connections with the Microprocessor complex through DGCR8 interaction, targeting miRNA precursor flanking regions 3. ZCCHC8 mutations cause telomere-related disorders including idiopathic pulmonary fibrosis and bone marrow failure syndromes. A novel P410A mutation disrupts nucleocytoplasmic localization, leading to decreased DKC1 and RTEL1 expression, shortened telomeres, and pulmonary fibrosis 4. Additional pathogenic variants have been identified in dyskeratosis congenita patients, demonstrating deficient ZCCHC8 function and inflammatory responses 5. The protein also negatively regulates type-I interferon responses by targeting IRF3 signaling, affecting RNA virus replication 6.

Sources cited
1
ZCCHC8 functions as scaffold for NEXT complex homodimerization and RNA surveillance mechanisms
PMID: 35688134
2
ZCCHC8 regulates H3K27me3 levels by degrading G4/U-rich lncRNAs affecting cancer progression
PMID: 39988317
3
ZCCHC8 forms functional connections with Microprocessor complex through DGCR8 interaction
PMID: 39515294
4
ZCCHC8 P410A mutation disrupts nucleocytoplasmic localization causing pulmonary fibrosis
PMID: 39256642
5
ZCCHC8 variants identified in dyskeratosis congenita patients showing deficient function
PMID: 39198715
6
ZCCHC8 negatively regulates type-I interferon responses through IRF3 signaling pathway
PMID: 39115433
Disease Associationsβ“˜21
pulmonary fibrosis, and/or bone marrow failure, telomere-related, 5Open Targets
0.52Moderate
neurodegenerative diseaseOpen Targets
0.46Moderate
dyskeratosis congenitaOpen Targets
0.35Weak
inherited aplastic anemiaOpen Targets
0.33Weak
glomerulonephritisOpen Targets
0.27Weak
inherited acute myeloid leukemiaOpen Targets
0.27Weak
gastric adenocarcinomaOpen Targets
0.21Weak
bladder transitional cell carcinomaOpen Targets
0.19Weak
diffuse large B-cell lymphomaOpen Targets
0.19Weak
lung adenocarcinomaOpen Targets
0.19Weak
cervical squamous cell carcinomaOpen Targets
0.19Weak
melanomaOpen Targets
0.19Weak
clear cell renal carcinomaOpen Targets
0.19Weak
non-small cell lung carcinomaOpen Targets
0.19Weak
acute myeloid leukemiaOpen Targets
0.19Weak
papillary thyroid carcinomaOpen Targets
0.19Weak
bile duct carcinomaOpen Targets
0.18Weak
colorectal adenocarcinomaOpen Targets
0.18Weak
Endometrial Endometrioid AdenocarcinomaOpen Targets
0.18Weak
Hepatobiliary NeoplasmOpen Targets
0.18Weak
Pulmonary fibrosis, and/or bone marrow failure syndrome, telomere-related, 5UniProt
Pathogenic Variants4
NM_017612.5(ZCCHC8):c.557C>T (p.Pro186Leu)Pathogenic
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5|not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 186
NM_017612.5(ZCCHC8):c.337G>A (p.Glu113Lys)Likely pathogenic
Dyskeratosis congenita
β˜…β˜†β˜†β˜†β†’ Residue 113
NM_017612.5(ZCCHC8):c.508G>C (p.Gly170Arg)Likely pathogenic
Inherited aplastic anemia
β˜…β˜†β˜†β˜†β†’ Residue 170
NM_017612.5(ZCCHC8):c.551G>A (p.Gly184Glu)Likely pathogenic
Inherited acute myeloid leukemia
β˜…β˜†β˜†β˜†β†’ Residue 184
View on ClinVar β†—
Related Genes
TENT4AProtein interaction100%NRDE2Protein interaction100%EXOSC10Protein interaction100%ZCCHC7Protein interaction100%TENT4BProtein interaction100%NCBP2Protein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Ovary
28%
Liver
26%
Lung
23%
Heart
15%
Brain
10%
Gene Interaction Network
Click a node to explore
ZCCHC8TENT4ANRDE2EXOSC10ZCCHC7TENT4BNCBP2
PROTEIN STRUCTURE
Preparing viewer…
PDB5LXR Β· 2.00 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.71LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.51 [0.37–0.71]
RankingsWhere ZCCHC8 stands among ~20K protein-coding genes
  • #4,341of 20,598
    Most Researched110 Β· top quartile
  • #3,736of 5,498
    Most Pathogenic Variants4
  • #5,432of 17,882
    Most Constrained (LOEUF)0.71
Genes detectedZCCHC8
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Paediatric-type diffuse high-grade gliomas in the 5th CNS WHO Classification.
PMID: 36534421
Pathologica Β· 2022
1.00
2
The NEXT complex regulates H3K27me3 levels to affect cancer progression by degrading G4/U-rich lncRNAs.
PMID: 39988317
Nucleic Acids Res Β· 2025
0.90
3
The MYCN oncoprotein is an RNA-binding accessory factor of the nuclear exosome targeting complex.
PMID: 38703770
Mol Cell Β· 2024
0.80
4
A functional connection between the Microprocessor and a variant NEXT complex.
PMID: 39515294
Mol Cell Β· 2024
0.70
5
The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.
PMID: 39198715
EMBO Mol Med Β· 2024
0.60