KHDRBS3
Chr 8KH RNA binding domain containing, signal transduction associated 3
Also known as: Etle, SALP, SLM-2, SLM2, T-STAR, TSTAR, etoile
The KHDRBS3 protein binds RNA and regulates alternative mRNA splicing, particularly of neurexins which are critical for synaptic function and targeting. Mutations cause autosomal recessive intellectual disability with variable features including developmental delay and neurological abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.493), and its regulation of neurexin splicing at glutamatergic synapses explains the neurodevelopmental phenotype.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KHDRBS3 · 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