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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 15 days ago
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ZNF668
zinc finger protein 668
Chromosome 16 Β· 16p11.2
NCBI Gene: 79759Ensembl: ENSG00000167394.14HGNC: HGNC:25821UniProt: A8K1I4
29PubMed Papers
21Diseases
0Drugs
3Pathogenic Variants
FUNCTIONAL ROLE
DNA RepairTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
DNA repairtranscription cis-regulatory region bindingregulation of transcription by RNA polymerase IInucleusneurodevelopmental disorder with poor growth, large ears, and dysmorphic faciesProfound global developmental delayFailure to thriveProgressive microcephaly
✦AI Summary

ZNF668 is a nucleolar zinc finger protein that functions primarily as a tumor suppressor through multiple mechanisms. As a transcriptional regulator, ZNF668 physically interacts with p53 and MDM2 to stabilize p53 and prevent its degradation, thereby suppressing breast cancer cell proliferation 1. In DNA damage response, ZNF668 acts as a key regulator of chr16 accessibility by promoting Tip60-mediated H2AX acetylation, facilitating recruitment of repair proteins to DNA lesions and enabling homologous recombination repair 2. ZNF668 suppresses cancer invasion and metastasis by downregulating Snail while upregulating epithelial markers E-cadherin and zonula occludens-1 3. Clinically, ZNF668 shows tumor suppressive properties across multiple cancer types: reduced expression in bladder cancer correlates with increased invasiveness 4, while in renal cell carcinoma, paradoxically, high ZNF668 expression predicts poor prognosis and associates with decreased immune infiltration 5. Biallelic ZNF668 mutations cause an autosomal recessive disorder (ZMAND) characterized by microcephaly, growth deficiency, severe developmental delay, brain malformation, and dysmorphic features, reflecting critical roles in neurodevelopment and DNA damage repair 6. ZNF668 promoter methylation varies among healthy individuals and may represent an epigenetic risk factor 7.

Sources cited
1
ZNF668 interacts with p53 and MDM2 to regulate p53 stability and suppress breast cancer cell proliferation
PMID: 21852383
2
ZNF668 promotes Tip60-H2AX interaction and histone acetylation to enable chromatin relaxation and DNA repair
PMID: 23777805
3
ZNF668 suppresses NSCLC invasion by downregulating Snail and upregulating E-cadherin and ZO-1
PMID: 29556277
4
Reduced ZNF668 expression in bladder cancer associates with increased invasiveness and muscle infiltration
PMID: 37240013
5
High ZNF668 expression in renal cell carcinoma predicts poor prognosis and decreased immune cell infiltration
PMID: 34261923
6
Biallelic ZNF668 mutations cause autosomal recessive ZMAND disorder with microcephaly, growth deficiency, and DNA damage repair defects
PMID: 34313816
7
ZNF668 promoter methylation varies among healthy individuals and may represent an epigenetic cancer risk factor
PMID: 32859265
Disease Associationsβ“˜21
neurodevelopmental disorder with poor growth, large ears, and dysmorphic faciesOpen Targets
0.62Moderate
Failure to thriveOpen Targets
0.42Moderate
Profound global developmental delayOpen Targets
0.42Moderate
Progressive microcephalyOpen Targets
0.42Moderate
Severe short-limb dwarfismOpen Targets
0.33Weak
neurodegenerative diseaseOpen Targets
0.27Weak
microcephalyOpen Targets
0.23Weak
Growth delayOpen Targets
0.23Weak
Abnormal facial shapeOpen Targets
0.23Weak
cerebral malformationOpen Targets
0.23Weak
Severe global developmental delayOpen Targets
0.23Weak
Abnormality of the skeletal systemOpen Targets
0.12Weak
myoepithelial tumorOpen Targets
0.11Weak
mathematical abilityOpen Targets
0.10Suggestive
urinary bladder carcinomaOpen Targets
0.08Suggestive
cancerOpen Targets
0.08Suggestive
atrial fibrillationOpen Targets
0.08Suggestive
response to anticoagulantOpen Targets
0.05Suggestive
neoplasmOpen Targets
0.04Suggestive
dermatophytosisOpen Targets
0.04Suggestive
Neurodevelopmental disorder with poor growth, large ears, and dysmorphic faciesUniProt
Pathogenic Variants3
NM_024706.5(ZNF668):c.1197del (p.Lys399fs)Likely pathogenic
Neurodevelopmental disorder with poor growth
β˜…β˜†β˜†β˜†2024β†’ Residue 399
NM_024706.5(ZNF668):c.1111C>T (p.Arg371Ter)Pathogenic
marked facial dysmorphism;Profound global developmental delay;Progressive microcephaly;Failure to thrive|Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
β˜†β˜†β˜†β˜†2023β†’ Residue 371
NM_024706.5(ZNF668):c.955C>T (p.Gln319Ter)Pathogenic
marked facial dysmorphism;Profound global developmental delay;Progressive microcephaly;Failure to thrive|Severe short-limb dwarfism|Neurodevelopmental disorder with poor growth, large ears, and dysmorphic facies
β˜†β˜†β˜†β˜†2023β†’ Residue 319
View on ClinVar β†—
Related Genes
BACH1Shared pathway100%ERCC6LShared pathway100%ZBTB45Protein interaction78%ALKBH2Shared pathway50%EEPD1Shared pathway50%APEX2Shared pathway50%
Tissue Expression6 tissues
Brain
100%
Bone Marrow
48%
Lung
44%
Liver
33%
Ovary
33%
Heart
19%
Gene Interaction Network
Click a node to explore
ZNF668BACH1ERCC6LZBTB45ALKBH2EEPD1APEX2
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96K58
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.46Moderately Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.27 [0.17–0.46]
RankingsWhere ZNF668 stands among ~20K protein-coding genes
  • #12,289of 20,598
    Most Researched29
  • #4,128of 5,498
    Most Pathogenic Variants3
  • #2,580of 17,882
    Most Constrained (LOEUF)0.46 Β· top quartile
Genes detectedZNF668
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
ZNF668: a new diagnostic predictor of kidney renal clear cell carcinoma.
PMID: 34261923
Anticancer Drugs Β· 2022
1.00
2
Environmental temperature and human epigenetic modifications: A systematic review.
PMID: 31884209
Environ Pollut Β· 2020
0.90
3
ZNF668 functions as a tumor suppressor by regulating p53 stability and function in breast cancer.
PMID: 21852383
Cancer Res Β· 2011
0.80
4
Zinc finger protein 668 interacts with Tip60 to promote H2AX acetylation after DNA damage.
PMID: 23777805
Cell Cycle Β· 2013
0.70
5
Relationship between the Reduced Expression of Zinc Finger Protein 668 in Bladder Cancer and Its Invasiveness.
PMID: 37240013
Int J Mol Sci Β· 2023
0.60