KHDRBS3

Chr 8

KH RNA binding domain containing, signal transduction associated 3

Also known as: Etle, SALP, SLM-2, SLM2, T-STAR, TSTAR, etoile

NCBI Gene: 10656 ENSG00000131773 UniProt: O75525

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.

ResearchSummary from RefSeq, UniProt

Enables RNA binding activity; identical protein binding activity; and protein domain specific binding activity. Predicted to be involved in regulation of alternative mRNA splicing, via spliceosome and spermatogenesis. Located in nucleoplasm. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.49

LOEUF

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Mechanism

Some data sources returned errors (1)

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