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GeneE
4 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.
ZNF830
zinc finger protein 830
Chromosome 17 Β· 17q12
NCBI Gene: 91603Ensembl: ENSG00000198783.6HGNC: HGNC:28291UniProt: Q96NB3
41PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mRNA splicing, via spliceosomenucleoplasmprotein bindingRNA processingneurodegenerative diseaseneuroinflammatory disorderhypertrophic cardiomyopathysystemic lupus erythematosus
✦AI Summary

ZNF830 is a zinc finger protein that functions as a critical regulator of DNA homologous recombination (HR) repair and cell cycle progression. Mechanistically, ZNF830 promotes HR repair by directly interacting with CtIP and facilitating DNA end resection at double-strand break sites 1. The protein binds preferentially to double-stranded DNA with 3' or 5' overhangs through its zinc finger domain, with recruitment to DNA damage sites dependent on ATR-mediated phosphorylation at serine 362 1. ZNF830 also interacts with the ubiquitin E3 ligase PPIL2, which regulates CtIP ubiquitination and modulates HR efficiency 2. Beyond DNA repair, ZNF830 participates in pre-mRNA splicing as a spliceosome component and controls mitotic progression while preventing replication fork collapse and double-strand break formation in rapidly proliferating cells. Clinically, ZNF830 overexpression confers chemoresistance to genotoxic therapy in cancer cells 1, and genetic variants in ZNF830 are associated with variable radiation therapy-induced adverse skin reactions in breast cancer patients, acting as a genetic modifier of normal tissue toxicity 3. These findings establish ZNF830 as a multifunctional protein linking genome maintenance to cancer treatment resistance.

Sources cited
1
ZNF830 promotes homologous recombination repair by interacting with CtIP, facilitating DNA end resection, and binding to double-stranded DNA with 3' or 5' overhangs; ATR-mediated phosphorylation at serine 362 is required for recruitment to DNA damage sites; ZNF830 overexpression confers chemoresistance
PMID: 29244158
2
ZNF830 interacts with the ubiquitin E3 ligase PPIL2 at DNA damage sites and is involved in regulation of HR-related protein activity
PMID: 36092721
3
Genetic variants in ZNF830 are associated with radiation therapy-induced acute skin adverse reactions in breast cancer patients and modify normal tissue toxicity severity
PMID: 27816361
⚠Limited data available β€” This gene has 3 indexed publications. Summary and analysis may be incomplete.
Disease Associationsβ“˜20
neurodegenerative diseaseOpen Targets
0.45Moderate
neuroinflammatory disorderOpen Targets
0.36Weak
hypertrophic cardiomyopathyOpen Targets
0.20Weak
systemic lupus erythematosusOpen Targets
0.13Weak
ovarian dysfunctionOpen Targets
0.11Weak
Sjogren syndromeOpen Targets
0.10Suggestive
brain cancerOpen Targets
0.07Suggestive
age-related macular degenerationOpen Targets
0.07Suggestive
nervous system cancerOpen Targets
0.06Suggestive
X-linked retinal dysplasiaOpen Targets
0.06Suggestive
Familial exudative vitreoretinopathyOpen Targets
0.06Suggestive
retinitis pigmentosaOpen Targets
0.05Suggestive
severe early-childhood-onset retinal dystrophyOpen Targets
0.05Suggestive
Stargardt diseaseOpen Targets
0.05Suggestive
breast fibrocystic diseaseOpen Targets
0.05Suggestive
reticular dystrophy of the retinal pigment epitheliumOpen Targets
0.05Suggestive
Benign familial choreaOpen Targets
0.05Suggestive
cardiomyopathyOpen Targets
0.05Suggestive
Meniere diseaseOpen Targets
0.05Suggestive
Familial drusenOpen Targets
0.04Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar β†—
Related Genes
RBM22Protein interaction100%PRPF19Protein interaction100%PRPF8Protein interaction100%BUD31Protein interaction100%PCBP1Protein interaction99%PRCCProtein interaction99%
Tissue Expression6 tissues
Bone Marrow
100%
Brain
83%
Liver
81%
Ovary
79%
Lung
60%
Heart
53%
Gene Interaction Network
Click a node to explore
ZNF830RBM22PRPF19PRPF8BUD31PCBP1PRCC
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96NB3
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.77LoF Tolerant
pLIβ“˜
0.02Tolerant
Observed/Expected LoF0.50 [0.33–0.77]
RankingsWhere ZNF830 stands among ~20K protein-coding genes
  • #10,118of 20,598
    Most Researched41
  • #6,242of 17,882
    Most Constrained (LOEUF)0.77
Genes detectedZNF830
Sources retrieved4 papers
Response timeβ€”
πŸ“„ Sources
4
1
PMID: 40018934
Front Biosci (Landmark Ed) Β· 2025
1.00
2
PLK1-mediated phosphorylation of PPIL2 regulates HR
PMID: 36092721
Front Cell Dev Biol Β· 2022
0.75
3
Genetic Variants in CD44 and MAT1A Confer Susceptibility to Acute Skin Reaction in Breast Cancer Patients Undergoing Radiation Therapy.
PMID: 27816361
Int J Radiat Oncol Biol Phys Β· 2017
0.50
4
ZNF830 mediates cancer chemoresistance through promoting homologous-recombination repair.
PMID: 29244158
Nucleic Acids Res Β· 2018
0.25