Emd
Gene Detail

Symbol Name ID

Emd emerin MGI:108117

Feature Type

protein coding gene

Genetic Map

Chromosome X

37.92 cM
Detailed Genetic Map ± 1 cM


Mapping data(3)

Sequence Map

ChrX:74254687-74261548 bp, + strand From VEGA annotation of GRCm38   6862 bp   ±  kb flank VEGA Genome Browser | Ensembl Genome Browser | UCSC Browser | NCBI Map Viewer

Mouse Genome Browser

Vertebrate homology

HomoloGene:91  Vertebrate Homology Class
1 human; 1 mouse; 1 rat; 1 chimpanzee; 1 rhesus macaque; 1 cattle; 1 dog

Gene Tree: Emd

Human homologs

Human Homolog		EMD, emerin
NCBI Gene ID		2010
neXtProt AC		NX_P50402
Human Synonyms		EDMD, LEMD5, STA
Human Chr (Location)		Xq28; chrX:153607597-153609883 (+)  GRCh37.p10
Disease Associations		(1) Diseases Associated with Human EMD

Alleles and phenotypes

All alleles(7) : Targeted(3) Gene trapped(4)
 

Mice homozygous for disruptions in this gene are generally indistiguishable from controls. However, lack of muscular coordination is reported for one allele along with development of vacuoles associated with the nuclear membrane of cardiac and skeletal muscle.

 

Gene Ontology (GO) classifications

All GO classifications: (23 annotations)

Process	cellular response to growth factor stimulus, negative regulation of catenin import into nucleus, ...
Component	endoplasmic reticulum, integral to membrane, ...
Function	actin binding, beta-tubulin binding, ...

External Resources: FuncBase

Expression

Literature Summary: (3 records)
Data Summary: Results (56)    Tissues (5)    Images (43)
Theiler Stages: 23

Assay Type	Results
RNA in situ	56

cDNA source data(77)
External Resources: Allen Institute   GEO   ArrayExpress

Molecular reagents

All nucleic(82) Genomic(4) cDNA(78)
Microarray probesets(4)

Other database links

VEGA Gene Model	OTTMUSG00000017684 (Evidence)
Ensembl Gene Model	ENSMUSG00000001964 (Evidence)
Entrez Gene	13726 (Evidence)
UniGene	18892
DFCI	TC1576636, TC1666479, TC1673734, TC1692637
Consensus CDS Project	CCDS30222.1
International Mouse Knockout Project Status	Emd

Sequences

Length	Strain/Species
genomic	OTTMUSG00000017684	VEGA Gene Model | MGI Sequence Detail	6862	C57BL/6J
transcript	OTTMUST00000042882	VEGA | MGI Sequence Detail	1595	Not Applicable
polypeptide	OTTMUSP00000019267	VEGA | MGI Sequence Detail	259	Not Applicable

All sequences(53) RefSeq(2) UniProt(7)

Polymorphisms

SNPs(12 from dbSNP Build 128)

Protein-related information

Resource	ID	Description
InterPro	IPR003887	Lamino-associated polypeptide 2/emerin
InterPro	IPR011015	LEM-like domain
Protein Ontology	PR:000007050	emerin

References

(Earliest) J:47956 Bione S, et al., Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994 Dec;8(4):323-7
(Latest) J:193454 Solovei I, et al., LBR and Lamin A/C Sequentially Tether Peripheral Heterochromatin and Inversely Regulate Differentiation. Cell. 2013 Jan 31;152(3):584-98
All references(47)

Other accession IDs

MGD-MRK-37154, MGI:2148023