RHOBTB2

Chr 8AD

Rho related BTB domain containing 2

Also known as: DBC2, DEE64, EIEE64, p83

NCBI Gene: 23221 ENSG00000008853 UniProt: Q9BYZ6 OMIM: 607352

The protein is a small Rho GTPase that interacts with cullin-3, a ubiquitin E3 ligase necessary for mitotic cell division. Gain-of-function mutations cause developmental and epileptic encephalopathy 64 through autosomal dominant inheritance. The protein normally functions as a candidate tumor suppressor that inhibits growth and spread of certain cancers.

OMIM ResearchSummary from RefSeq, OMIM, Mechanism

The protein encoded by this gene is a small Rho GTPase and a candidate tumor suppressor. The encoded protein interacts with the cullin-3 protein, a ubiquitin E3 ligase necessary for mitotic cell division. This protein inhibits the growth and spread of some types of breast cancer. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011]

OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Developmental and epileptic encephalopathy 64MIM #618004

Clinical highlights

Gene-disease validity (ClinGen)

complex neurodevelopmental disorder · ADDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

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)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Multiple*

Mechanism· predicted