ZNF423 Gene

HGNC Family	Zinc fingers
Name	zinc finger protein 423
Description	The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012]
Summary	{"type": "root", "children": [{"type": "p", "children": [{"type": "t", "text": "\nZNF423 acts as a critical mediator of the cellular response to DNA damage and is essential for maintaining genomic integrity. In renal ciliopathies, for instance, ZNF423 relocalizes to nuclear foci together with other DNA damage response (DDR) proteins upon induced genotoxic stress, suggesting that it functions in concert with centrosome‐ and chromatin‐associated factors to orchestrate efficient repair. In parallel, functional studies in mouse models have confirmed that hypomorphic or loss‐of‐function variants in ZNF423 result in neuroanatomical defects, underscoring its pivotal role in neurodevelopment and centrosome regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "1", "end_ref": "3"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nIn addition to its role in genome maintenance, ZNF423 functions as a versatile transcriptional co‐regulator that is indispensable for cellular differentiation processes. In neuroblastoma cells, ZNF423 associates with the retinoic acid receptor complex (RARα/RXRα) to activate retinoid‐dependent transcription and promote differentiation, while its dysregulation confers a growth advantage and resistance to differentiation signals. In the context of B lymphopoiesis, aberrantly high expression of ZNF423 inhibits the transcriptional activity of early B cell factor 1 (EBF1), thereby contributing to a differentiation arrest in B precursor acute lymphoblastic leukemia. Moreover, via its regulation of peroxisome proliferator–activated receptor gamma (PPARG2), ZNF423 is a master regulator of adipocyte lineage commitment – a role that is particularly evident in the contrasting adipogenic potentials of well‐differentiated versus dedifferentiated liposarcomas."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "4", "end_ref": "7"}]}, {"type": "t", "text": ""}]}, {"type": "t", "text": "\n\n"}, {"type": "p", "children": [{"type": "t", "text": "\nZNF423’s multifunctional property further extends to oncogenic signaling and hormone response pathways. In nasopharyngeal carcinoma, the recurrent fusion between UBR5 and ZNF423 results in a chimeric oncoprotein that drives cellular transformation. In breast cancer, estrogen signaling modulates ZNF423 expression via nearby estrogen response elements, which in turn regulates downstream targets such as BRCA1; moreover, interactions with the protease CTSO affect ZNF423 protein stability and influence tamoxifen responsiveness. In cholangiocarcinoma, oxidative stress induces ZNF423 expression that promotes cell proliferation and invasive behavior, while in the immune system, altered expression of ZNF423 (also known as OAZ) has been implicated in systemic lupus erythematosus by perturbing B cell regulation."}, {"type": "fg", "children": [{"type": "fg_fs", "start_ref": "8", "end_ref": "14"}]}, {"type": "t", "text": ""}]}, {"type": "rg", "children": [{"type": "r", "ref": 1, "children": [{"type": "t", "text": "Moumita Chaki, Rannar Airik, Amiya K Ghosh, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cell (2012)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.cell.2012.06.028"}], "href": "https://doi.org/10.1016/j.cell.2012.06.028"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "22863007"}], "href": "https://pubmed.ncbi.nlm.nih.gov/22863007"}]}, {"type": "r", "ref": 2, "children": [{"type": "t", "text": "Emily Baker, Rebecca Sims, Ganna Leonenko, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Gene-based analysis in HRC imputed genome wide association data identifies three novel genes for Alzheimer's disease."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS One (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pone.0218111"}], "href": "https://doi.org/10.1371/journal.pone.0218111"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31283791"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31283791"}]}, {"type": "r", "ref": 3, "children": [{"type": "t", "text": "Ojas Deshpande, Raquel Z Lara, Oliver R Zhang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ZNF423 patient variants, truncations, and in-frame deletions in mice define an allele-dependent range of midline brain abnormalities."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2020)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1009017"}], "href": "https://doi.org/10.1371/journal.pgen.1009017"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "32925911"}], "href": "https://pubmed.ncbi.nlm.nih.gov/32925911"}]}, {"type": "r", "ref": 4, "children": [{"type": "t", "text": "Sidong Huang, Jamila Laoukili, Mirjam T Epping, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ZNF423 is critically required for retinoic acid-induced differentiation and is a marker of neuroblastoma outcome."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Cancer Cell (2009)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1016/j.ccr.2009.02.023"}], "href": "https://doi.org/10.1016/j.ccr.2009.02.023"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "19345331"}], "href": "https://pubmed.ncbi.nlm.nih.gov/19345331"}]}, {"type": "r", "ref": 5, "children": [{"type": "t", "text": "Lena Harder, Georg Eschenburg, Antonia Zech, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Aberrant ZNF423 impedes B cell differentiation and is linked to adverse outcome of ETV6-RUNX1 negative B precursor acute lymphoblastic leukemia."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Exp Med (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1084/jem.20130497"}], "href": "https://doi.org/10.1084/jem.20130497"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "24081948"}], "href": "https://pubmed.ncbi.nlm.nih.gov/24081948"}]}, {"type": "r", "ref": 6, "children": [{"type": "t", "text": "Maria Mesuraca, Emanuela Chiarella, Stefania Scicchitano, et al. "}, {"type": "b", "children": [{"type": "t", "text": "ZNF423 and ZNF521: EBF1 Antagonists of Potential Relevance in B-Lymphoid Malignancies."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomed Res Int (2015)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1155/2015/165238"}], "href": "https://doi.org/10.1155/2015/165238"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "26788497"}], "href": "https://pubmed.ncbi.nlm.nih.gov/26788497"}]}, {"type": "r", "ref": 7, "children": [{"type": "t", "text": "Thanh N Dang, Rafael P Tiongco, Loren M Brown, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Expression of the preadipocyte marker ZFP423 is dysregulated between well-differentiated and dedifferentiated liposarcoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "BMC Cancer (2022)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s12885-022-09379-6"}], "href": "https://doi.org/10.1186/s12885-022-09379-6"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "35313831"}], "href": "https://pubmed.ncbi.nlm.nih.gov/35313831"}]}, {"type": "r", "ref": 8, "children": [{"type": "t", "text": "Grace Ty Chung, Raymond Wm Lung, Angela By Hui, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Identification of a recurrent transforming UBR5-ZNF423 fusion gene in EBV-associated nasopharyngeal carcinoma."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "J Pathol (2013)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/path.4240"}], "href": "https://doi.org/10.1002/path.4240"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "23878065"}], "href": "https://pubmed.ncbi.nlm.nih.gov/23878065"}]}, {"type": "r", "ref": 9, "children": [{"type": "t", "text": "Xuebing Feng, Nan Che, Yan Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Restored immunosuppressive effect of mesenchymal stem cells on B cells after olfactory 1/early B cell factor-associated zinc-finger protein down-regulation in patients with systemic lupus erythematosus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arthritis Rheumatol (2014)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1002/art.38879"}], "href": "https://doi.org/10.1002/art.38879"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "25219468"}], "href": "https://pubmed.ncbi.nlm.nih.gov/25219468"}]}, {"type": "r", "ref": 10, "children": [{"type": "t", "text": "Sisi Qin, James N Ingle, Mohan Liu, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Calmodulin-like protein 3 is an estrogen receptor alpha coregulator for gene expression and drug response in a SNP, estrogen, and SERM-dependent fashion."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Breast Cancer Res (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/s13058-017-0890-x"}], "href": "https://doi.org/10.1186/s13058-017-0890-x"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28821270"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28821270"}]}, {"type": "r", "ref": 11, "children": [{"type": "t", "text": "Junmei Cairns, James N Ingle, Lawrence D Wickerham, et al. "}, {"type": "b", "children": [{"type": "t", "text": "SNPs near the cysteine proteinase cathepsin O gene (CTSO) determine tamoxifen sensitivity in ERα-positive breast cancer through regulation of BRCA1."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "PLoS Genet (2017)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1371/journal.pgen.1007031"}], "href": "https://doi.org/10.1371/journal.pgen.1007031"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "28968398"}], "href": "https://pubmed.ncbi.nlm.nih.gov/28968398"}]}, {"type": "r", "ref": 12, "children": [{"type": "t", "text": "Timpika Chaiprasert, Napat Armartmuntree, Anchalee Techasen, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Roles of Zinc Finger Protein 423 in Proliferation and Invasion of Cholangiocarcinoma through Oxidative Stress."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Biomolecules (2019)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.3390/biom9070263"}], "href": "https://doi.org/10.3390/biom9070263"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "31284679"}], "href": "https://pubmed.ncbi.nlm.nih.gov/31284679"}]}, {"type": "r", "ref": 13, "children": [{"type": "t", "text": "Xuebing Feng, Rongliang Li, Jing Huang, et al. "}, {"type": "b", "children": [{"type": "t", "text": "Olf1/EBF associated zinc finger protein interfered with antinuclear antibody production in patients with systemic lupus erythematosus."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Arthritis Res Ther (2010)"}]}, {"type": "t", "text": " DOI: "}, {"type": "a", "children": [{"type": "t", "text": "10.1186/ar2972"}], "href": "https://doi.org/10.1186/ar2972"}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20359360"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20359360"}]}, {"type": "r", "ref": 14, "children": [{"type": "t", "text": "Rong-liang Li, Jing Huang, Ling-yun Sun, et al. "}, {"type": "b", "children": [{"type": "t", "text": "[Gene expression of OAZ pathway in the patients of systemic lupus erythematosus]."}]}, {"type": "t", "text": " "}, {"type": "i", "children": [{"type": "t", "text": "Zhonghua Yi Xue Za Zhi (2009)"}]}, {"type": "t", "text": " PMID: "}, {"type": "a", "children": [{"type": "t", "text": "20017333"}], "href": "https://pubmed.ncbi.nlm.nih.gov/20017333"}]}]}]}
Synonyms	ZFP423, EBFAZ, ZFP104, NPHP14, JBTS19, ROAZ, HOAZ
Proteins	ZN423_HUMAN
NCBI Gene ID	23090
API
Download Associations
Predicted Functions
Co-expressed Genes
Expression in Tissues and Cell Lines

Functional Associations

ZNF423 has 6,387 functional associations with biological entities spanning 8 categories (molecular profile, organism, disease, phenotype or trait, chemical, functional term, phrase or reference, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 112 datasets.

Click the + buttons to view associations for ZNF423 from the datasets below.

If available, associations are ranked by standardized value

Harmonizome 3.0

ZNF423 Gene

Functional Associations

Please acknowledge the Harmonizome in your publications by citing the following reference(s):

	Dataset	Summary
	Achilles Cell Line Gene Essentiality Profiles	cell lines with fitness changed by ZNF423 gene knockdown relative to other cell lines from the Achilles Cell Line Gene Essentiality Profiles dataset.
	Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ZNF423 gene relative to other tissues from the Allen Brain Atlas Adult Human Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles	tissues with high or low expression of ZNF423 gene relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray	tissue samples with high or low expression of ZNF423 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by Microarray dataset.
	Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq	tissue samples with high or low expression of ZNF423 gene relative to other tissue samples from the Allen Brain Atlas Developing Human Brain Tissue Gene Expression Profiles by RNA-seq dataset.
	Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles	tissues with high or low expression of ZNF423 gene relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.
	BioGPS Cell Line Gene Expression Profiles	cell lines with high or low expression of ZNF423 gene relative to other cell lines from the BioGPS Cell Line Gene Expression Profiles dataset.
	BioGPS Human Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ZNF423 gene relative to other cell types and tissues from the BioGPS Human Cell Type and Tissue Gene Expression Profiles dataset.
	BioGPS Mouse Cell Type and Tissue Gene Expression Profiles	cell types and tissues with high or low expression of ZNF423 gene relative to other cell types and tissues from the BioGPS Mouse Cell Type and Tissue Gene Expression Profiles dataset.
	CCLE Cell Line Gene CNV Profiles	cell lines with high or low copy number of ZNF423 gene relative to other cell lines from the CCLE Cell Line Gene CNV Profiles dataset.
	CCLE Cell Line Gene Expression Profiles	cell lines with high or low expression of ZNF423 gene relative to other cell lines from the CCLE Cell Line Gene Expression Profiles dataset.
	CCLE Cell Line Gene Mutation Profiles	cell lines with ZNF423 gene mutations from the CCLE Cell Line Gene Mutation Profiles dataset.
	CellMarker Gene-Cell Type Associations	cell types associated with ZNF423 gene from the CellMarker Gene-Cell Type Associations dataset.
	ChEA Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ZNF423 gene from the CHEA Transcription Factor Binding Site Profiles dataset.
	ChEA Transcription Factor Targets	transcription factors binding the promoter of ZNF423 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets dataset.
	ChEA Transcription Factor Targets 2022	transcription factors binding the promoter of ZNF423 gene in low- or high-throughput transcription factor functional studies from the CHEA Transcription Factor Targets 2022 dataset.
	ClinVar Gene-Phenotype Associations	phenotypes associated with ZNF423 gene from the curated ClinVar Gene-Phenotype Associations dataset.
	CMAP Signatures of Differentially Expressed Genes for Small Molecules	small molecule perturbations changing expression of ZNF423 gene from the CMAP Signatures of Differentially Expressed Genes for Small Molecules dataset.
	COMPARTMENTS Curated Protein Localization Evidence Scores	cellular components containing ZNF423 protein from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores	cellular components co-occuring with ZNF423 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.
	COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025	cellular components co-occuring with ZNF423 protein in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores 2025 dataset.
	COSMIC Cell Line Gene CNV Profiles	cell lines with high or low copy number of ZNF423 gene relative to other cell lines from the COSMIC Cell Line Gene CNV Profiles dataset.
	COSMIC Cell Line Gene Mutation Profiles	cell lines with ZNF423 gene mutations from the COSMIC Cell Line Gene Mutation Profiles dataset.
	CTD Gene-Disease Associations	diseases associated with ZNF423 gene/protein from the curated CTD Gene-Disease Associations dataset.
	dbGAP Gene-Trait Associations	traits associated with ZNF423 gene in GWAS and other genetic association datasets from the dbGAP Gene-Trait Associations dataset.
	DepMap CRISPR Gene Dependency	cell lines with fitness changed by ZNF423 gene knockdown relative to other cell lines from the DepMap CRISPR Gene Dependency dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores	diseases involving ZNF423 gene from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Curated Gene-Disease Association Evidence Scores 2025	diseases involving ZNF423 gene from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores	diseases associated with ZNF423 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Experimental Gene-Disease Association Evidence Scores 2025	diseases associated with ZNF423 gene in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores 2025 dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores	diseases co-occuring with ZNF423 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.
	DISEASES Text-mining Gene-Disease Association Evidence Scores 2025	diseases co-occuring with ZNF423 gene in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores 2025 dataset.
	DisGeNET Gene-Disease Associations	diseases associated with ZNF423 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
	DisGeNET Gene-Phenotype Associations	phenotypes associated with ZNF423 gene in GWAS and other genetic association datasets from the DisGeNET Gene-Phenoptype Associations dataset.
	ENCODE Histone Modification Site Profiles	histone modification site profiles with high histone modification abundance at ZNF423 gene from the ENCODE Histone Modification Site Profiles dataset.
	ENCODE Transcription Factor Binding Site Profiles	transcription factor binding site profiles with transcription factor binding evidence at the promoter of ZNF423 gene from the ENCODE Transcription Factor Binding Site Profiles dataset.
	ENCODE Transcription Factor Targets	transcription factors binding the promoter of ZNF423 gene in ChIP-seq datasets from the ENCODE Transcription Factor Targets dataset.
	ESCAPE Omics Signatures of Genes and Proteins for Stem Cells	PubMedIDs of publications reporting gene signatures containing ZNF423 from the ESCAPE Omics Signatures of Genes and Proteins for Stem Cells dataset.
	GAD Gene-Disease Associations	diseases associated with ZNF423 gene in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.
	GDSC Cell Line Gene Expression Profiles	cell lines with high or low expression of ZNF423 gene relative to other cell lines from the GDSC Cell Line Gene Expression Profiles dataset.