GMEB2

Chr 20

glucocorticoid modulatory element binding protein 2

Also known as: GMEB-2, P79PIF, PIF79

NCBI Gene: 26205 ENSG00000101216 UniProt: Q9UKD1 OMIM: 607451

The GMEB2 protein is a transcriptional regulator that binds to glucocorticoid modulatory elements and enhances glucocorticoid sensitivity, and also serves as an essential factor for parvovirus replication. Mutations in GMEB2 cause neurodevelopmental disorders with intellectual disability, typically presenting in early childhood. The gene shows autosomal dominant inheritance and is highly constrained against loss-of-function mutations.

OMIM ResearchSummary from RefSeq, UniProt

This gene is a member of KDWK gene family. The product of this gene associates with GMEB1 protein, and the complex is essential for parvovirus DNA replication. Study of rat homolog implicates the role of this gene in modulation of transactivation by the glucocorticoid receptor bound to glucocorticoid response elements. This gene appears to use multiple polyadenylation sites. [provided by RefSeq, Jul 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.Based on population constraint only.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.24

LOEUF· LoF intol.

LOF

Mechanism· predicted