HIVEP3
Chr 1HIVEP zinc finger 3
Also known as: KBP-1, KBP1, KRC, SHN3, Schnurri-3, ZAS3, ZNF40C
The protein functions as a transcription factor that regulates NF-kappaB-mediated transcription by binding to kappaB motifs in target genes, and also binds to recombination signal sequences involved in immunoglobulin and T-cell receptor gene rearrangement. Mutations cause autosomal dominant intellectual disability with developmental delay and seizures. The gene is highly constrained against loss-of-function variants, indicating that heterozygous mutations are likely sufficient to cause disease.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
127 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 7 | 0 | 7 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 1 | 8 | 4 | 0 | 13 |
Likely Benign | 0 | 11 | 0 | 31 | 42 |
Benign | 0 | 22 | 1 | 21 | 44 |
| Total | 1 | 41 | 15 | 52 | 109 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
HIVEP3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools