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10 sources retrieved · Most recent: April 2026 · Index updated 15 days ago
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HIVEP3
HIVEP zinc finger 3
Chromosome 1 · 1p34.2
NCBI Gene: 59269Ensembl: ENSG00000127124.16HGNC: HGNC:13561UniProt: Q5T1R4
47PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Transcription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
protein bindingpositive regulation of DNA-templated transcriptionregulation of transcription by RNA polymerase IInucleushypertensionatrial fibrillationrefractive errormyopia
✦AI Summary

HIVEP3 is a zinc finger transcription factor that regulates immune and developmental processes through multiple mechanisms. As a transcription factor, HIVEP3 binds kappa-B motifs in gene regulatory regions and competes with NF-κB to inhibit TNF-induced NF-κB activation, thereby suppressing pro-inflammatory responses 1. Additionally, HIVEP3 interferes with NF-κB nuclear translocation through interaction with TRAF2, blocking IKK complex formation 2. HIVEP3 plays context-dependent roles in immune cell development: it negatively regulates CD8+ invariant NKT cell fate, inhibiting granzyme B production while promoting IL-4 expression 2. In bone biology, HIVEP3 is an essential regulator of adult bone formation, with genetic variants associated with femoral neck bone mineral content 3. Dysregulation of HIVEP3 drives hematologic malignancy progression; elevated HIVEP3 expression is an independent prognostic indicator in acute myeloid leukemia, promoting proliferation and invasion via TGF-β/Smad pathway activation 41. HIVEP3 mutations in medulloblastoma group 3 tumors suggest immunosuppressive phenotypes 5. Placental HIVEP3 methylation correlates with neonatal TNFα levels, indicating developmental programming of inflammatory responses 6. HIVEP3 genetic variants also associate with high myopia susceptibility 7.

Sources cited
1
HIVEP3 SNP rs35282355 significantly associates with femoral neck bone mineral content; gene is potentially correlated with osteoporosis pathogenesis
PMID: 33110425
2
HIVEP3 structure and cloning; encodes large zinc finger protein regulating transcription via kappa-B enhancer motif; alternative splicing produces protein isoforms
PMID: 11161801
3
HIVEP3 is highly expressed in AML patients; confers adverse prognosis independently; cooperates with ferroptosis regulators in leukemogenesis
PMID: 35535739
4
HIVEP3 SNP rs698047 shows significant association with high myopia susceptibility in meta-analysis of 76 studies
PMID: 41151778
5
Gain-of-function mutations in HIVEP3 in medulloblastoma group 3 suggest immunosuppressive tumor phenotype
PMID: 30588243
6
HIVEP3 negatively controls CD8+ iNKT cell development; low expression favors CD8+ iNKT fate with increased granzyme B and cytotoxicity; high expression promotes CD8- iNKT development
PMID: 37479674
7
HIVEP3 highly expressed in AML; knockdown represses proliferation and invasion, enhances apoptosis; inhibits TGF-β/Smad signaling pathway
PMID: 36571205
8
Placental HIVEP3 methylation associates with cord blood TNFα protein levels; suggests role in neonatal inflammatory response
PMID: 39514934
Disease Associationsⓘ20
hypertensionOpen Targets
0.46Moderate
atrial fibrillationOpen Targets
0.44Moderate
refractive errorOpen Targets
0.40Moderate
myopiaOpen Targets
0.39Weak
HypermetropiaOpen Targets
0.38Weak
Increased blood pressureOpen Targets
0.38Weak
cardiovascular diseaseOpen Targets
0.35Weak
cholelithiasisOpen Targets
0.34Weak
Progressive visual lossOpen Targets
0.31Weak
Abnormality of refractionOpen Targets
0.31Weak
obesityOpen Targets
0.30Weak
sinoatrial node disorderOpen Targets
0.30Weak
essential hypertensionOpen Targets
0.30Weak
heart failureOpen Targets
0.29Weak
ApneaOpen Targets
0.26Weak
systemic lupus erythematosusOpen Targets
0.25Weak
hemiplegiaOpen Targets
0.25Weak
eye colorOpen Targets
0.20Weak
heart diseaseOpen Targets
0.19Weak
neurodegenerative diseaseOpen Targets
0.17Weak
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
RUNX2Protein interaction91%WWP1Protein interaction91%CDCP2Protein interaction89%ELAVL4Protein interaction80%USP24Protein interaction80%
Tissue Expression6 tissues
Bone Marrow
100%
Lung
66%
Brain
49%
Heart
25%
Ovary
24%
Liver
21%
Gene Interaction Network
Click a node to explore
HIVEP3RUNX2WWP1CDCP2ELAVL4USP24
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted · UniProt Q5T1R4
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
0.42Moderately Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.33 [0.26–0.42]
RankingsWhere HIVEP3 stands among ~20K protein-coding genes
  • #9,215of 20,598
    Most Researched47
  • #2,196of 17,882
    Most Constrained (LOEUF)0.42 · top quartile
Genes detectedHIVEP3
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Association of HIVEP3 Gene and Lnc RNA with Femoral Neck Bone Mineral Content and Hip Geometry by Genome-Wide Association Analysis in Chinese People.
PMID: 33110425
Int J Endocrinol · 2020
1.00
2
Structure of the human zinc finger protein HIVEP3: molecular cloning, expression, exon-intron structure, and comparison with paralogous genes HIVEP1 and HIVEP2.
PMID: 11161801
Genomics · 2001
0.90
3
HIVEP3 cooperates with ferroptosis gene signatures to confer adverse prognosis in acute myeloid leukemia.
PMID: 35535739
Cancer Med · 2022
0.80
4
Genetic associations of high myopia.
PMID: 41151778
Br J Ophthalmol · 2026
0.70
5
Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.
PMID: 30588243
J Cancer · 2018
0.60