LEMD2 Gene Summary [Human]
This gene encodes a LEM domain-containing transmembrane protein of the inner nuclear membrane. The protein is involved in nuclear structure organization and plays a role in cell signaling and differentiation. Mutations in this gene result in Cataract 46, juvenile-onset. Multiple transcript variants have been found for this gene. [provided by RefSeq, Feb 2017]
Details
| Type | Protein Coding |
| Official Symbol | LEMD2 |
| Official Name | LEM domain nuclear envelope protein 2 [Source:HGNC Symbol;Acc:HGNC:21244] |
| Ensembl ID | ENSG00000161904 |
| Bio databases IDs | |
| Aliases | LEM domain nuclear envelope protein 2, lamina-associated polypeptide-emerin-MAN1 domain containing 2 |
| Synonyms | BC026588, CTRCT42, dJ482C21.1, LEM2, LEM domain containing 2, LEM domain nuclear envelope protein 2, LOC108348120, MARUPS, NET25 |
| 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 LEMD2 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- nuclear localization sequence
- 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
- schizophrenia
- Marbach-Rustad progeroid syndrome
- juvenile-onset cataract 46
- insomnia
role in cell
- accumulation in
- differentiation
- organization
- invagination
- invagination in
- myogenesis
- hyperactivation in
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
- Endoplasmic Reticulum
- cytoplasmic aggregates
- inner nuclear membrane
- nuclear rim
- nuclear envelope
- chromatin
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human LEMD2 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- nuclear envelope organization
- skeletal muscle cell differentiation
- heart formation
- negative regulation of MAPK cascade
- protein localization to chromatin
- nuclear membrane organization
- neurogenesis
- negative regulation of protein kinase B signaling cascade
Cellular Component
Where in the cell the gene product is active
- nuclear envelope
- nuclear membrane
- nuclear inner membrane
- membrane
- spindle
- endoplasmic reticulum
- nuclear periphery
- chromatin
Molecular Function
What the gene product does at the molecular level
- protein binding