MID2

Chr X

midline 2

Also known as: FXY2, MRX101, RNF60, TRIM1, XLID101

NCBI Gene: 11043 ENSG00000080561 UniProt: Q9UJV3

MID2 encodes an E3 ubiquitin ligase that mediates microtubule stabilization and regulates LRRK2 protein degradation in neurons through polyubiquitination. Mutations cause X-linked intellectual developmental disorder with males being affected and females typically being carriers. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.496), suggesting some tolerance to protein-disrupting changes.

ResearchSummary from RefSeq, OMIM, UniProt

The protein encoded by this gene is a member of the tripartite motif (TRIM) family. The TRIM motif includes three zinc-binding domains, a RING, a B-box type 1 and a B-box type 2, and a coiled-coil region. The protein localizes to microtubular structures in the cytoplasm. Alternate splicing of this gene results in two transcript variants encoding different isoforms. [provided by RefSeq, Feb 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtIntellectual developmental disorder, X-linked 101

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)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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