1. Gene
  2. Emd - emerin Gene

Emd - emerin Gene

Mus musculus

Also known as Sta

Gene ID: 13726 | Gene type: protein coding

About Emd

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
Gene Ontology
  • Molecular Function
  • Biological Process
  • Cellular Component
Molecular Function GO Annotation Evidence Reference Source
enables protein binding IPI
IPI: Inferred from physical interaction
19933576 MGI
Biological Process GO Annotation Evidence Reference 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 Reference 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
EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern
Protein Preferred Names Protein Names

emerin

Orthologs Information

Species Symbol Source ID
Homo sapiens Emd NCBI NCBI:2010
Macaca fascicularis Emd NCBI NCBI:102138141