LEMD3 Gene Summary [Human]
This locus encodes a LEM domain-containing protein. The encoded protein functions to antagonize transforming growth factor-beta signaling at the inner nuclear membrane. Two transcript variants encoding different isoforms have been found for this gene. Mutations in this gene have been associated with osteopoikilosis, Buschke-Ollendorff syndrome and melorheostosis.[provided by RefSeq, Nov 2009]
Details
| Type | Processed Transcript |
| Official Symbol | LEMD3 |
| Official Name | LEM domain containing 3 [Source:HGNC Symbol;Acc:HGNC:28887] |
| Ensembl ID | ENSG00000174106 |
| Bio databases IDs | |
| Aliases | LEM domain containing 3, inner nuclear membrane protein Man1, MAN antigen 1 |
| Synonyms | LEM domain containing 3, MAN1, Msrb3, RGD1561001 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human LEMD3 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- RNA recognition motif (RRM) superfamily
- RNA recognition motif
- LEM
- protein binding
- LEM domain
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- dermatofibrosis lenticularis disseminata
- melorheostosis with osteopoikilosis
- hereditary disorder
- Tietze disease
- osteopoikilosis
- venous thromboembolism
- intracranial arteriovenous malformation
role in cell
- differentiation
- organization
- cell cycle progression
- myogenesis
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Nucleus
- cellular membrane
- inner nuclear membrane
- nuclear envelope
- plasma
- detergent-soluble fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LEMD3 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of BMP signaling pathway
- negative regulation of activin receptor signaling pathway
- negative regulation of transforming growth factor beta receptor signaling pathway
Cellular Component
Where in the cell the gene product is active
- nuclear inner membrane
- nuclear membrane
- membrane
Molecular Function
What the gene product does at the molecular level
- DNA binding
- protein binding