EMD Gene Summary [Human]
Emerin is a serine-rich nuclear membrane protein and a member of the nuclear lamina-associated protein family. It mediates membrane anchorage to the cytoskeleton. Dreifuss-Emery muscular dystrophy is an X-linked inherited degenerative myopathy resulting from mutation in the emerin gene. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | EMD |
| Official Name | emerin [Source:HGNC Symbol;Acc:HGNC:3331] |
| Ensembl ID | ENSG00000102119 |
| Bio databases IDs | |
| Aliases | emerin, LEM domain containing 5 |
| Synonyms | EDMD, EMERIN, Gm14686, LEMD5, LOC108168464, STA |
| 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 EMD often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- beta-tubulin binding
- nucleoplasmic domain
- actin binding
- 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
- X-linked Emery-Dreifuss muscular dystrophy type 1
- Charcot-Marie-Tooth disease type 2
- familial primary dilated cardiomyopathy
- X-linked myopathy with postural muscle atrophy
- neuromuscular disease
- lung adenocarcinoma
- lung adenocarcinoma formation
- Emery-Dreifuss muscular dystrophy
- ovarian carcinoma
- epithelial ovarian cancer
role in cell
- phosphorylation in
- expression in
- proliferation
- differentiation
- apoptosis
- number
- formation
- cell viability
- activation in
- morphology
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
- nuclear fraction
- detergent-insoluble fractions
- pH resistant lipid raft fraction
- detergent resistant lipid raft fraction
- cortical endoplasmic reticulum
- intracellular membrane-bounded organelle
- Cytoplasm
- cellular membrane
- centrosome
- Endoplasmic Reticulum
- cytoplasmic aggregates
- cytosol
- endoplasmic reticulum membrane
- inner nuclear membrane
- nucleoplasm
- outer nuclear membrane
- nuclear rim
- nuclear envelope
- nuclear matrix
- nuclear lamina
- chromatin
- chromosomal cores
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human EMD gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- muscle organ development
- negative regulation of canonical Wnt receptor signaling pathway
- positive regulation of protein export from nucleus
- skeletal muscle cell differentiation
- negative regulation of fibroblast proliferation
- muscle contraction
- cellular response to growth factor stimulus
- regulation of canonical Wnt receptor signaling pathway
- nuclear membrane organization
Cellular Component
Where in the cell the gene product is active
- nuclear outer membrane
- endoplasmic reticulum
- nucleoplasm
- microtubule
- nuclear envelope
- spindle pole centrosome
- nuclear membrane
- nuclear inner membrane
- cytoplasm
- membrane
- spindle
- cytosol
- cortical endoplasmic reticulum
Molecular Function
What the gene product does at the molecular level
- protein binding
- actin binding
- beta-tubulin binding
- cadherin binding