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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ZNF469
zinc finger protein 469
Chromosome 16 Β· 16q24.2
NCBI Gene: 84627Ensembl: ENSG00000225614.4HGNC: HGNC:23216UniProt: Q96JG9
39PubMed Papers
21Diseases
0Drugs
196Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
negative regulation of transcription by RNA polymerase IIregulation of extracellular matrix organizationDNA-binding transcription factor activitynucleusbrittle cornea syndromeAbnormality of the cardiovascular systemkeratoconus 1Abnormality of the skeletal system
✦AI Summary

ZNF469 is a zinc finger transcription factor that regulates collagen and extracellular matrix (ECM) gene expression across multiple tissues. 1 ZNF469 binds directly to gene bodies and regulatory elements to control collagen production in hepatic stellate cells, emerging as a key determinant of liver fibrosis in metabolic dysfunction-associated steatotic liver disease. 2 In dermal fibroblasts, ZNF469 acts as a putative transcriptional regulator of collagen biosynthesis and functions downstream of NRF2, a master antioxidative regulator. 3 ZNF469 knockdown impairs fibroblast proliferation, migration, and collagen production while suppressing ECM-related gene expression, indicating its central role in fibroblast function and ECM homeostasis. ZNF469 mutations cause Brittle Cornea Syndrome, a condition characterized by ECM disruption in corneal tissues. 4 Recent studies reveal unexpected associations between ZNF469 variants and aortic/arterial aneurysms and dissections, suggesting broader roles in vascular ECM integrity. 5 At the molecular level, ZNF469 contains intrinsically disordered regions and forms biomolecular condensates, though endogenous protein localization differs from overexpressed protein. 6 In lung adenocarcinoma, ZNF469 upregulation correlates with poor prognosis and altered immune infiltration, suggesting disease-specific functional complexity. 7

Sources cited
1
ZNF469 regulates collagen expression in hepatic stellate cells through direct binding to gene bodies and regulatory elements; identified as a transcriptional regulator of collagen in liver fibrosis
PMID: 39998893
2
ZNF469 is a target of NRF2 and acts as a putative transcriptional regulator of collagen biosynthesis in dermal fibroblasts; ZNF469 knockdown reduces collagen I expression
PMID: 38487918
3
ZNF469 knockdown impairs fibroblast proliferation, migration, contraction and collagen production; ZNF469 is upregulated in hypertrophic scars and keloids and localizes to mesenchymal fibroblasts
PMID: 40910217
4
ZNF469 mutations cause brittle cornea syndrome and are associated with aortic/arterial aneurysms and dissection diseases through ECM disruption
PMID: 38892036
5
ZNF469 variants associate with arterial aneurysmal and dissection diseases; variants found in principal coding exons 1 and 2
PMID: 39769491
6
ZNF469 is a 3953 amino acid protein with large intrinsically disordered regions; forms aggregates possibly as biomolecular condensates when overexpressed; endogenous and overexpressed ZNF469 show different subcellular localization patterns
PMID: 40156465
7
ZNF469 is significantly upregulated in lung adenocarcinoma and associated with poor prognosis; interacts with collagen genes and ECM components; expression correlates with immune cell infiltration
PMID: 38151328
Disease Associationsβ“˜21
brittle cornea syndromeOpen Targets
0.78Strong
Abnormality of the cardiovascular systemOpen Targets
0.54Moderate
keratoconus 1Open Targets
0.53Moderate
Abnormality of the skeletal systemOpen Targets
0.44Moderate
Ehlers-Danlos syndromeOpen Targets
0.40Weak
dental pulp diseaseOpen Targets
0.33Weak
periapical tissue diseaseOpen Targets
0.33Weak
osteoarthritis, kneeOpen Targets
0.30Weak
rheumatic diseaseOpen Targets
0.30Weak
response to antihypertensive drugOpen Targets
0.28Weak
disease of peritoneumOpen Targets
0.26Weak
total knee arthroplastyOpen Targets
0.26Weak
coronary atherosclerosisOpen Targets
0.26Weak
nephrotic syndromeOpen Targets
0.26Weak
coronary artery diseaseOpen Targets
0.24Weak
keratoconusOpen Targets
0.22Weak
hypertensionOpen Targets
0.21Weak
peritonitisOpen Targets
0.21Weak
type 2 diabetes mellitusOpen Targets
0.20Weak
Varicose veinsOpen Targets
0.19Weak
Brittle cornea syndrome 1UniProt
Pathogenic Variants196
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)Pathogenic
not provided|Brittle cornea syndrome 1
β˜…β˜…β˜†β˜†2026β†’ Residue 3090
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs)Pathogenic
not provided|Cardiovascular phenotype|Brittle cornea syndrome 1
β˜…β˜…β˜†β˜†2026β†’ Residue 2149
NM_001367624.2(ZNF469):c.7294C>T (p.Gln2432Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2432
NM_001367624.2(ZNF469):c.5661_5668del (p.His1888fs)Pathogenic
not provided|Brittle cornea syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 1888
NM_001367624.2(ZNF469):c.9915del (p.Arg3306fs)Pathogenic
Cardiovascular phenotype|Brittle cornea syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 3306
NM_001367624.2(ZNF469):c.8370G>A (p.Trp2790Ter)Pathogenic
not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 2790
NM_001367624.2(ZNF469):c.3754dup (p.Cys1252fs)Likely pathogenic
not provided|Brittle cornea syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 1252
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)Pathogenic
not provided|Brittle cornea syndrome 1
β˜…β˜…β˜†β˜†2025β†’ Residue 2784
NM_001367624.2(ZNF469):c.1171_1175del (p.Leu391fs)Pathogenic
not provided|Cardiovascular phenotype|Brittle cornea syndrome 1
β˜…β˜…β˜†β˜†2024β†’ Residue 391
NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2024β†’ Residue 2519
NM_001367624.2(ZNF469):c.526G>T (p.Glu176Ter)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2024β†’ Residue 176
NM_001367624.2(ZNF469):c.3959dup (p.Ala1321fs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 1321
NM_001367624.2(ZNF469):c.1963dup (p.His655fs)Pathogenic
not provided|Cardiovascular phenotype
β˜…β˜…β˜†β˜†2024β†’ Residue 655
NM_001367624.2(ZNF469):c.10324_10325del (p.Arg3442fs)Pathogenic
Brittle cornea syndrome 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 3442
NM_001127464.2(ZNF469):c.3034delG (p.Val1012Serfs)Pathogenic
not provided|Brittle cornea syndrome 1
β˜…β˜…β˜†β˜†2024β†’ Residue 1012
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs)Pathogenic
Brittle cornea syndrome 1|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 2810
NM_001367624.2(ZNF469):c.4882_4883del (p.Thr1628fs)Pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1628
NM_001127464.2(ZNF469):c.1673del (p.Ala558Valfs)Pathogenic
not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 558
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)Pathogenic
Brittle cornea syndrome 1|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 1373
NM_001367624.2(ZNF469):c.6445C>T (p.Gln2149Ter)Pathogenic
Cardiovascular phenotype|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 2149
View on ClinVar β†—
Related Genes
CHST14Protein interaction83%COL5A1Protein interaction80%PLOD1Protein interaction80%PRDM5Shared pathway50%ANGPTL7Shared pathway33%RECKShared pathway9%
Tissue Expression6 tissues
Ovary
100%
Heart
19%
Lung
18%
Bone Marrow
16%
Brain
11%
Liver
9%
Gene Interaction Network
Click a node to explore
ZNF469CHST14COL5A1PLOD1PRDM5ANGPTL7RECK
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96JG9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.71LoF Tolerant
pLIβ“˜
0.26Tolerant
Observed/Expected LoF0.47 [0.16–1.71]
RankingsWhere ZNF469 stands among ~20K protein-coding genes
  • #10,424of 20,598
    Most Researched39
  • #355of 5,498
    Most Pathogenic Variants196 Β· top 10%
  • #16,151of 17,882
    Most Constrained (LOEUF)1.71
Genes detectedZNF469
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
The transcription factor ZNF469 regulates collagen production in liver fibrosis.
PMID: 39998893
JCI Insight Β· 2025
1.00
2
NRF2 Shortage in Human Skin Fibroblasts Dysregulates Matrisome Gene Expression and Affects Collagen Fibrillogenesis.
PMID: 38487918
J Invest Dermatol Β· 2023
0.90
3
An Eye into the Aorta: The Role of Extracellular Matrix Regulatory Genes
PMID: 38892036
Int J Mol Sci Β· 2024
0.80
4
Whole-Exome Sequencing Among Chinese Patients With Hereditary Diffuse Gastric Cancer.
PMID: 36484990
JAMA Netw Open Β· 2022
0.70
5
On subcellular distribution of the zinc finger 469 protein (ZNF469) and observed discrepancy in the localization of endogenous and overexpressed ZNF469.
PMID: 40156465
FEBS Open Bio Β· 2025
0.60