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6 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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ZNF330
zinc finger protein 330
Chromosome 4 · 4q31.21
NCBI Gene: 27309Ensembl: ENSG00000109445.12HGNC: HGNC:15462UniProt: B4DFG9
30PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromosome, centromeric regionmidbodynucleolusprotein bindingintestinal diseaseplacenta praeviaheart conduction diseaseulcer of lower limb
✦AI Summary

ZNF330 (also called NOA36) is a highly evolutionarily conserved zinc finger protein with multifaceted cellular functions. Structurally, it contains nine CXXC motifs encoded across exons 3-9 and a characteristic cysteine-rich domain 1. ZNF330 localizes to the nucleolus through a conserved nucleolar localization signal in its N-terminal region, with RNA-dependent association 12. The protein transiently associates with centromeres during mitosis and can localize to mitochondria 13. Functionally, ZNF330 exhibits proapoptotic activity mediated by its cysteine-rich domain, reducing apoptotic responses when knocked down with siRNA and inducing apoptosis when overexpressed in the cytoplasm 3. Recently, it was shown to interact with heat shock proteins HSPA1 and HSPA8, and modulate cell cycle progression and proliferation recovery following heat shock stress 4. Clinically, de novo mutations in ZNF330 have been identified in patients with sacral agenesis (caudal regression syndrome), a rare congenital disorder affecting caudal development 5. This suggests ZNF330 may play a role in caudal mesoderm development. The protein's conservation across animal phyla from sponges to humans indicates fundamental biological importance, though additional research is needed to fully elucidate its roles in normal development and disease pathogenesis.

Sources cited
1
ZNF330 gene structure (10 exons, 16 kb), chromosome location (4q31.1-q31.2), nine CXXC motifs in exons 3-9, nucleolar and centromeric localization, RNA-dependent nucleolar association
PMID: 11528117
2
ZNF330 interacts with HSPA1 and HSPA8 heat shock proteins; modulates cell cycle and proliferation recovery after heat shock stress
PMID: 37254218
3
De novo mutations in ZNF330 identified in sacral agenesis/caudal regression syndrome patients
PMID: 28007035
4
ZNF330 exhibits proapoptotic activity mediated by cysteine-rich domain; reduces apoptotic response when knocked down; induces apoptosis when overexpressed in cytoplasm
PMID: 19895853
5
ZNF330 contains conserved nucleolar localization signal (NoLS) in residues 1-33, with critical lysine residues at positions 3-5; capable of directing proteins to nucleolus across distant species
PMID: 23516598
Disease Associationsⓘ20
intestinal diseaseOpen Targets
0.27Weak
placenta praeviaOpen Targets
0.17Weak
heart conduction diseaseOpen Targets
0.11Weak
ulcer of lower limbOpen Targets
0.09Suggestive
prostate adenocarcinomaOpen Targets
0.04Suggestive
endocrine neoplasmOpen Targets
0.04Suggestive
gastritisOpen Targets
0.04Suggestive
preeclampsiaOpen Targets
0.03Suggestive
eye diseaseOpen Targets
0.03Suggestive
Non-Neoplastic Bile Duct DisorderOpen Targets
0.03Suggestive
ovarian neoplasmOpen Targets
0.03Suggestive
retinal vascular disorderOpen Targets
0.02Suggestive
dermatitisOpen Targets
0.02Suggestive
cervical carcinomaOpen Targets
0.02Suggestive
liver diseaseOpen Targets
0.02Suggestive
ovarian carcinomaOpen Targets
0.01Suggestive
chronic kidney diseaseOpen Targets
0.01Suggestive
congenital rubellaOpen Targets
0.00Suggestive
neoplasmOpen Targets
0.00Suggestive
dermatomyositisOpen Targets
0.00Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
GSCProtein interaction95%UBTFProtein interaction80%
Tissue Expression6 tissues
Heart
100%
Liver
38%
Bone Marrow
34%
Lung
34%
Ovary
26%
Brain
17%
Gene Interaction Network
Click a node to explore
ZNF330GSCUBTF
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q53EN0
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.96LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.70 [0.51–0.96]
RankingsWhere ZNF330 stands among ~20K protein-coding genes
  • #12,082of 20,598
    Most Researched30
  • #9,106of 17,882
    Most Constrained (LOEUF)0.96
Genes detectedZNF330
Sources retrieved6 papers
Response time—
📄 Sources
6▼
1
Genomic structure and chromosome location of the human gene encoding the zinc finger autoantigen ZNF330.
PMID: 11528117
Cytogenet Cell Genet · 2001
1.00
2
ZNF330/NOA36 interacts with HSPA1 and HSPA8 and modulates cell cycle and proliferation in response to heat shock in HEK293 cells.
PMID: 37254218
Biol Direct · 2023
0.83
3
Sacral agenesis: a pilot whole exome sequencing and copy number study.
PMID: 28007035
BMC Med Genet · 2016
0.67
4
NOA36/ZNF330 is a conserved cystein-rich protein with proapoptotic activity in human cells.
PMID: 19895853
Biochim Biophys Acta · 2009
0.50
5
NOA36 protein contains a highly conserved nucleolar localization signal capable of directing functional proteins to the nucleolus, in mammalian cells.
PMID: 23516598
PLoS One · 2013
0.33