HMGB2

Chr 4

high mobility group box 2

Also known as: HMG2

NCBI Gene: 3148 ENSG00000164104 UniProt: P26583

This protein binds and bends DNA to facilitate chromatin remodeling, transcriptional regulation, and V(D)J recombination in developing immune cells. Pathogenic variants cause autosomal dominant neurodevelopmental disorder with developmental delay, intellectual disability, and behavioral abnormalities. The gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.32), indicating intolerance to disruption.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the non-histone chromosomal high mobility group protein family. The proteins of this family are chromatin-associated and ubiquitously distributed in the nucleus of higher eukaryotic cells. In vitro studies have demonstrated that this protein is able to efficiently bend DNA and form DNA circles. These studies suggest a role in facilitating cooperative interactions between cis-acting proteins by promoting DNA flexibility. This protein was also reported to be involved in the final ligation step in DNA end-joining processes of DNA double-strand breaks repair and V(D)J recombination. [provided by RefSeq, Jul 2008]

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)

—

P/LP submissions

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P/LP missense

0.32

LOEUF· LoF intol.

LOF

Mechanism· predicted

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