LMNB2

Chr 19p13.3

lamin B2

MANE:: ENST00000325327.4

OMIM: 150341 ↗NCBI: 84823 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LMNB2 · Q03252

v62025-08-01

Predicted Aligned Error matrix for LMNB2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

79.0/ 100

Confident

620 residues

Confidence breakdown

Very high(≥ 90)61%
Confident(70–90)13%
Low(50–70)4%
Very low(< 50)23%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Severe microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Early onset or syndromic epilepsy
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

microcephaly 27, primary, autosomal dominant
0.74
acquired partial lipodystrophy
0.58
progressive myoclonic epilepsy type 9
0.51
Primary microcephaly
0.37
Progressive myoclonic epilepsy
0.24
tooth disorder
0.16
knee injury
0.16
neurodevelopmental disorder
0.15
Generalized myoclonic seizure
0.11
hepatocellular carcinoma
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Lamin-B2

Lamins are intermediate filament proteins that assemble into a filamentous meshwork, and which constitute the major components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane (PubMed:33033404). Lamins provide a framework for the nuclear envelope, bridging the nuclear envelope and chromatin, thereby playing an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics (PubMed:33033404). The structural integrity of the lamina is strictly controlled by the cell cycle, as seen by the disintegration and formation of the nuclear envelope in prophase and telophase, respectively (PubMed:33033404)