B9D2
Chr 19ARB9 domain containing 2
Also known as: ICIS-1, JBTS34, MKS10, MKSR-2, MKSR2
The encoded protein is a component of the tectonic-like complex that localizes to the transition zone of primary cilia and acts as a barrier preventing diffusion of transmembrane proteins between cilia and plasma membranes. Mutations cause Meckel syndrome 10 and Joubert syndrome 34, both ciliopathies affecting multiple organ systems including the brain, kidneys, and liver. Inheritance is autosomal recessive.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
B9D2 · 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