RHPN1
Chr 8rhophilin Rho GTPase binding protein 1
Also known as: ODF5, RHOPHILIN, RHPN
RHPN1 encodes a protein that serves as a target for Rho signaling and interacts with cytoskeletal components to regulate stress fiber assembly and focal adhesion formation. Mutations cause autosomal recessive nephronophthisis with retinal dystrophy, typically presenting in childhood with progressive kidney disease and vision loss. The gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
RHPN1 · 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