LMNB2

Chr 19

lamin B2

Also known as: EPM9, LAMB2, LMN2, MCPH27

NCBI Gene: 84823 ENSG00000176619 UniProt: Q03252

This gene encodes lamin B2, an intermediate filament protein that forms the nuclear lamina meshwork on the inner nuclear membrane and plays essential roles in nuclear envelope structure, chromatin organization, and gene expression. Mutations cause autosomal dominant primary microcephaly with early onset, progressive myoclonic epilepsy, and contribute to acquired partial lipodystrophy susceptibility. The gene is highly constrained against loss-of-function variants (pLI 0.999, LOEUF 0.104), indicating that complete loss of function is poorly tolerated.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a B type nuclear lamin. The nuclear lamina consists of a two-dimensional matrix of proteins located next to the inner nuclear membrane. The lamin family of proteins make up the matrix and are highly conserved in evolution. During mitosis, the lamina matrix is reversibly disassembled as the lamin proteins are phosphorylated. Lamin proteins are thought to be involved in nuclear stability, chromatin structure and gene expression. Vertebrate lamins consist of two types, A and B. Mutations in this gene are associated with acquired partial lipodystrophy. [provided by RefSeq, May 2012]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtPartial acquired lipodystrophy

UniProtEpilepsy, progressive myoclonic 9

UniProtMicrocephaly 27, primary, autosomal dominant

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

0.10

LOEUF· LoF intol.

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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