Emd - emerin Gene
Also Known as Sta
Species: Mus musculus
Summary
This gene is the founding member of the LEM (Lap2beta, Emerin, and Man1) domain gene family. It encodes an integral membrane protein of the inner nuclear membrane. This gene may be involved in transcriptional regulation and genomic organization. In humans, mutations in this gene cause a class of diseases called laminopathies, which includes Emery-Dreifuss muscular dystrophy (EDMD). [provided by RefSeq, Apr 2013]
Emd Products (11)
| mRNA | Protein | Name |
|---|---|---|
| NM_001410134.1 | NP_001397063.1 | emerin isoform 2 |
| NM_001410135.1 | NP_001397064.1 | emerin isoform 2 |
| NM_001410136.1 | NP_001397065.1 | emerin isoform 3 |
| NM_001410137.1 | NP_001397066.1 | emerin isoform 4 |
| NM_001410138.1 | NP_001397067.1 | emerin isoform 4 |
| NM_001410139.1 | NP_001397068.1 | emerin isoform 4 |
| NM_001410140.1 | NP_001397069.1 | emerin isoform 5 |
| NM_001410141.1 | NP_001397070.1 | emerin isoform 6 |
| NM_001410142.1 | NP_001397071.1 | emerin isoform 7 |
| NM_001410143.1 | NP_001397072.1 | emerin isoform 8 |
| NM_007927.4 | NP_031953.1 | emerin isoform 1 |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables protein binding |
IPI
IPI: Inferred from physical interaction
|
19933576 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| acts upstream of or within skeletal muscle cell differentiation |
IGI
IGI: Inferred from genetic interaction
|
19720741 | MGI |
| acts upstream of or within skeletal muscle cell differentiation |
IMP
IMP: Inferred from mutant phenotype
|
19720741 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in TMEM240-body |
IDA
IDA: Inferred from direct assay
|
32535204 | MGI |
| located in nuclear envelope |
IDA
IDA: Inferred from direct assay
|
19933576 | MGI |
| located in nuclear membrane |
IDA
IDA: Inferred from direct assay
|
17164264 | MGI |
| located in nucleus |
IDA
IDA: Inferred from direct assay
|
22349700 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
emerin |
|