LEMD3

Chr 12q14.3

LEM domain containing 3

Aliases:: MAN1
MANE:: ENST00000308330.3

OMIM: 607844 ↗NCBI: 23592 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

LEMD3 · Q9Y2U8

v62025-08-01

Predicted Aligned Error matrix for LEMD3 — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

59.6/ 100

Low

911 residues

Confidence breakdown

Very high(≥ 90)14%
Confident(70–90)29%
Low(50–70)8%
Very low(< 50)50%

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
Multiple monogenic benign skin tumours
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Osteopetrosis
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Skeletal dysplasia
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Deafness and congenital structural abnormalities
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Buschke-Ollendorff syndrome
0.77
osteopoikilosis
0.51
melorheostosis with osteopoikilosis
0.51
melorheostosis
0.47
hereditary disease
0.47
isolated osteopoikilosis
0.37
Cerebral arteriovenous malformation
0.34
Tietze syndrome
0.29
jaw disease
0.29
pulmonary edema
0.23

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

Protein function (UniProt)

Inner nuclear membrane protein Man1

Can function as a specific repressor of TGF-beta, activin, and BMP signaling through its interaction with the R-SMAD proteins. Antagonizes TGF-beta-induced cell proliferation arrest