OSR2

Chr 8

odd-skipped related transciption factor 2

NCBI Gene: 116039 ENSG00000164920 UniProt: Q8N2R0 OMIM: 611297

OSR2 encodes a transcription factor that is involved in mandibular molar tooth development during the bud stage. Mutations cause isolated tooth agenesis, which follows an autosomal dominant inheritance pattern. The gene shows relatively low constraint against loss-of-function variants, suggesting some tolerance to functional disruption.

OMIM ResearchSummary from RefSeq, UniProt

OSR2 is a mammalian homolog of the Drosophila odd-skipped family of transcription factors (Lan et al., 2004 [PubMed 15175245]).[supplied by OMIM, Mar 2008]

OMIM 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.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.79

LOEUF

Mechanism· predicted