Gene
emd
- ID
- ZDB-GENE-070501-2
- Name
- emerin
- Symbol
- emd Nomenclature History
- Previous Names
-
- emerin (Emery-Dreifuss muscular dystrophy)
- Type
- protein_coding_gene
- Location
- Chr: 23 Mapping Details/Browsers
- Description
- Predicted to localize to integral component of membrane. Human ortholog(s) of this gene implicated in Emery-Dreifuss muscular dystrophy; X-linked Emery-Dreifuss muscular dystrophy 1; and dilated cardiomyopathy. Is expressed in heart. Orthologous to human EMD (emerin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- 1 figure from Shih et al., 2015
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- 1 Figure from Hayashi et al., 2020
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| X-linked Emery-Dreifuss muscular dystrophy 1 | Alliance | Emery-Dreifuss muscular dystrophy 1, X-linked | 310300 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | LEM domain | LEM domain-containing | LEM/LEM-like domain superfamily |
|---|---|---|---|---|
|
UniProtKB:E9QIK0
|
182 | |||
|
UniProtKB:A0A8M9Q7T6
|
181 | |||
|
UniProtKB:A0A8M9PWT2
|
182 |
| Type | Name | Annotation Method | Has Havana Data | Length (nt) | Analysis |
|---|---|---|---|---|---|
| aberrant processed transcript |
emd-201
(1)
|
Ensembl | 1,143 nt | ||
| aberrant processed transcript |
emd-204
(1)
|
Ensembl | 760 nt | ||
| mRNA |
emd-202
(1)
|
Ensembl | 1,566 nt | ||
| mRNA |
emd-203
(1)
|
Ensembl | 866 nt | ||
| mRNA |
emd-206
(1)
|
Ensembl | 285 nt | ||
| ncRNA |
emd-005
(1)
|
Ensembl | 887 nt |
Interactions and Pathways
No data available
Plasmids
No data available