Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 23592
MIM: 607844
HGNC: 28887
Ensembl: ENSG00000174106
Variants:
dbSNP: 23592
ClinVar: 23592
TCGA: ENSG00000174106
COSMIC: LEMD3
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000174106 | ENST00000308330 | Q9Y2U8 |
| ENSG00000174106 | ENST00000308330 | A0A024RBB9 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 31129707 | 2019 | Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. | 4 |
| 31129707 | 2019 | Melorheostosis and Osteopoikilosis Clinical and Molecular Description of an Italian Case Series. | 4 |
| 29465813 | 2018 | Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia. | 0 |
| 30108174 | 2018 | LEM domain-containing protein 3 antagonizes TGFβ-SMAD2/3 signaling in a stiffness-dependent manner in both the nucleus and cytosol. | 12 |
| 30321401 | 2018 | Structural basis for receptor-regulated SMAD recognition by MAN1. | 9 |
| 29465813 | 2018 | Buschke-Ollendorff syndrome due to a novel LEMD3 mutation - an unusual case of alopecia. | 0 |
| 30108174 | 2018 | LEM domain-containing protein 3 antagonizes TGFβ-SMAD2/3 signaling in a stiffness-dependent manner in both the nucleus and cytosol. | 12 |
| 30321401 | 2018 | Structural basis for receptor-regulated SMAD recognition by MAN1. | 9 |
| 28449239 | 2017 | The Role of the Nuclear Envelope Protein MAN1 in Mesenchymal Stem Cell Differentiation. | 1 |
| 28449239 | 2017 | The Role of the Nuclear Envelope Protein MAN1 in Mesenchymal Stem Cell Differentiation. | 1 |
| 26694706 | 2016 | Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. | 4 |
| 26711937 | 2016 | RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome. | 2 |
| 26694706 | 2016 | Identification of a novel LEMD3 Y871X mutation in a three-generation family with osteopoikilosis and review of the literature. | 4 |
| 26711937 | 2016 | RNA recognition motif of LEMD3 as a key player in the pathogenesis of Buschke-Ollendorff syndrome. | 2 |
| 26135202 | 2015 | Novel Somatic Mutation in LEMD3 Splice Site Results in Buschke-Ollendorff Syndrome with Polyostotic Melorheostosis and Osteopoikilosis. | 5 |
Citation
Dessen P
LEMD3 (LEM domain containing 3)
Atlas Genet Cytogenet Oncol Haematol. 2010-11-01
Online version: http://atlasgeneticsoncology.org/gene/51755/lemd3-(lem-domain-containing-3)
