EMD Gene (Emerin)
Key insights into the EMD gene, its function, associated diseases, and clinical significance.
Gene Information Card
| Symbol | EMD |
|---|---|
| Full Name | Emerin |
| Gene Type | Protein coding |
| Chromosomal Location | Xq28 |
| NCBI Gene ID | 2010 ncbi.nlm.nih.gov/gene/2010 |
| Ensembl ID | ENSG00000102119 |
| UniProt ID | P50402 |
| OMIM ID | 300384 |
| HGNC ID | 3331 |
| Aliases | STA, EDMD, EDMD1 |
Description
The EMD gene encodes emerin, a serine-rich nuclear membrane protein that is a component of the nuclear lamina. Emerin is involved in maintaining nuclear structure, regulating gene expression, and linking the nuclear envelope to the cytoskeleton. Mutations in EMD cause X-linked Emery-Dreifuss muscular dystrophy (EDMD1), characterized by early contractures, progressive muscle weakness, and cardiac conduction defects.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Emery-Dreifuss muscular dystrophy 1 (EDMD1) | Loss-of-function mutations in EMD lead to absence or dysfunction of emerin, disrupting nuclear envelope integrity and causing muscle cell fragility. | OMIM #310300; ClinVar |
| X-linked dilated cardiomyopathy | EMD mutations can present primarily with cardiac involvement, including dilated cardiomyopathy and conduction block, often without significant skeletal muscle symptoms. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 31.2 | Medium |
| Heart | 27.8 | Medium |
| Testis | 15.4 | Low |
| Lung | 10.1 | Low |
| Brain | 6.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 18.5 | Cervical carcinoma cell line |
| K-562 | 12.3 | Leukemia cell line |
| A549 | 9.8 | Lung carcinoma cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Loss of start codon, no protein production |
| c.450G>A (p.Trp150*) | Nonsense | Rare | Premature stop, truncated protein |
| c.544C>T (p.Arg182*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Most EMD mutations result in loss of emerin protein expression or function, leading to nuclear envelope instability.
Gain of Function (GOF)
Not reported for EMD.
Dominant Negative (DN)
Not reported for EMD; disease is X-linked recessive.
View complete mutation data：
Gene Ontology (GO)
| • nuclear envelope | • nuclear lamina |
| • structural constituent of nuclear pore | • protein binding |
| • membrane |
Pathways
• Nuclear envelope breakdown and reassembly
• Laminopathies
Protein Summary
Emerin is a 254-amino acid integral membrane protein localized to the inner nuclear membrane. It interacts with lamins, barrier-to-autointegration factor (BAF), and other nuclear envelope proteins to maintain nuclear shape and mechanical stability. Loss of emerin leads to nuclear envelope fragility, altered gene expression, and muscle and cardiac pathology.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| EMD Knockout HEK293 Cell Line | EDJ-KQ3572 | Human | 2010 | Details Get a Quote |
| LEMD3 Knockout HEK293 Cell Line | EDJ-KQ8093 | Human | 23592 | Details Get a Quote |
| LEMD1 Knockout HEK293 Cell Line | EDJ-KQ11214 | Human | 93273 | Details Get a Quote |
| LEMD3 Knockout A-549 Cell Line | EDJ-KQ33953 | Human | 23592 | Details Get a Quote |
| LEMD3 Knockout HCT 116 Cell Line | EDJ-KQ33954 | Human | 23592 | Details Get a Quote |
| EMD Knockout A-549 Cell Line | EDJ-KQ25451 | Human | 2010 | Details Get a Quote |
| EMD Knockout HCT 116 Cell Line | EDJ-KQ25452 | Human | 2010 | Details Get a Quote |
| EMD Knockout HeLa Cell Line | EDJ-KQ25453 | Human | 2010 | Details Get a Quote |
| LEMD3 Knockout HeLa Cell Line | EDJ-KQ32615 | Human | 23592 | Details Get a Quote |
| LEMD1 Knockout HeLa Cell Line | EDJ-KQ57860 | Human | 93273 | Details Get a Quote |
| LEMD1 Knockout A-549 Cell Line | EDJ-KQ66356 | Human | 93273 | Details Get a Quote |
| LEMD1 Knockout HCT 116 Cell Line | EDJ-KQ74779 | Human | 93273 | Details Get a Quote |
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