DZIP1
Chr 13ADARDAZ interacting zinc finger protein 1
Also known as: DZIP, DZIPt1, MMVP3, MVP3, SPGF47
DZIP1 encodes a molecular adapter that recruits protein complexes required for cilium assembly and function to the cilium basal body, and activates vesicle-mediated transport of proteins to the cilium. Mutations cause mitral valve prolapse and spermatogenic failure in males, with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene is not constrained against loss-of-function variants, and the associated phenotypes reflect the protein's essential roles in cardiac development and sperm flagellum assembly through ciliogenesis.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
229 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 | 1 | 1 | 79 | 0 | 81 |
Likely Pathogenic | 2 | 0 | 0 | 0 | 2 |
VUS | 0 | 113 | 10 | 0 | 123 |
Likely Benign | 0 | 4 | 0 | 0 | 4 |
Benign | 0 | 2 | 0 | 1 | 3 |
| Total | 3 | 120 | 89 | 1 | 213 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
DZIP1 · 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