LEMD2

Chr 6p21.31

LEM domain nuclear envelope protein 2

Aliases:: dJ482C21.1, NET25, LEM2
MANE:: ENST00000293760.10

OMIM: 616312 ↗NCBI: 221496 ↗Ensembl ↗

Annotations refreshed 9 hours ago.

Predicted protein structure

AlphaFold predicted structure

LEMD2 · Q8NC56

v62025-08-01

Predicted Aligned Error matrix for LEMD2 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

70.3/ 100

Confident

503 residues

Confidence breakdown

Very high(≥ 90)15%
Confident(70–90)48%
Low(50–70)10%
Very low(< 50)28%

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
Bilateral congenital or childhood onset cataracts
BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

Marbach-Rustad progeroid syndrome
0.54
cataract 46 juvenile-onset
0.53
Total congenital cataract
0.38
total early-onset cataract
0.37
chronic obstructive pulmonary disease
0.31
microcephaly
0.27
Narrow mouth
0.27
Proptosis
0.27
Reduced bone mineral density
0.27
Micrognathia
0.27

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

Protein function (UniProt)

LEM domain-containing protein 2

Nuclear lamina-associated inner nuclear membrane protein that is involved in nuclear structure organization, maintenance of nuclear envelope (NE) integrity and NE reformation after mitosis (PubMed:16339967, PubMed:17097643, PubMed:28242692, PubMed:32494070). Plays a role as transmembrane adapter for the endosomal sorting complexes required for transport (ESCRT), and is thereby involved in ESCRT-mediated NE reformation (PubMed:28242692, PubMed:32494070). Promotes ESCRT-mediated NE closure by recruiting CHMP7 and downstream ESCRT-III proteins IST1/CHMP8 and CHMP2A to the reforming NE during anaphase (PubMed:28242692). During nuclear reassembly, condenses into a liquid-like coating around microtubule spindles and coassembles with CHMP7 to form a macromolecular O-ring seal at the confluence between membranes, chromatin, and the spindle to facilitate early nuclear sealing (PubMed:32494070). Plays a role in the organization of heterochromatin associated with the NE and in the maintenance of NE organization under mechanical stress (By similarity). Required for embryonic development and involved in regulation of several signaling pathways such as MAPK and AKT (By similarity). Required for myoblast differentiation involving regulation of ERK signaling (By similarity). Essential for cardiac homeostasis and proper heart function (By similarity)